x chromosome

Summary

Summary: The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.

Top Publications

  1. pmc Polycomb proteins targeted by a short repeat RNA to the mouse X chromosome
    Jing Zhao
    Howard Hughes Medical Institute, Boston, MA 02115, USA
    Science 322:750-6. 2008
  2. ncbi Systematic functional analysis of the Caenorhabditis elegans genome using RNAi
    Ravi S Kamath
    Wellcome Trust Cancer Research UK Institute and Department of Genetics, University of Cambridge, Tennis Court Road, Cambridge CB2 1QR, UK
    Nature 421:231-7. 2003
  3. pmc X chromosome dosage compensation via enhanced transcriptional elongation in Drosophila
    Erica Larschan
    Division of Genetics, Department of Medicine, Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
    Nature 471:115-8. 2011
  4. ncbi An abundance of X-linked genes expressed in spermatogonia
    P J Wang
    Howard Hughes Medical Institute, Whitehead Institute, and Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA
    Nat Genet 27:422-6. 2001
  5. doi LINE-1 activity in facultative heterochromatin formation during X chromosome inactivation
    Jennifer C Chow
    Institut Curie, Paris F 75248, France
    Cell 141:956-69. 2010
  6. doi Natural selection shapes genome-wide patterns of copy-number polymorphism in Drosophila melanogaster
    J J Emerson
    Department of Ecology and Evolution, University of Chicago, Chicago, IL 60637, USA
    Science 320:1629-31. 2008
  7. ncbi Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
    R E Amir
    Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nat Genet 23:185-8. 1999
  8. pmc Novel genes derived from noncoding DNA in Drosophila melanogaster are frequently X-linked and exhibit testis-biased expression
    Mia T Levine
    Center for Population Biology, University of California Davis, Davis, CA 95616, USA
    Proc Natl Acad Sci U S A 103:9935-9. 2006
  9. ncbi Establishment of histone h3 methylation on the inactive X chromosome requires transient recruitment of Eed-Enx1 polycomb group complexes
    Jose Silva
    X Inactivation Group, MRC Clinical Sciences Centre, ICSM, Hammersmith Hospital, Du Cane Road, London W12 0NN, United Kingdom
    Dev Cell 4:481-95. 2003
  10. doi Molecular coupling of Xist regulation and pluripotency
    Pablo Navarro
    Institut Pasteur, Unité de Génétique Moléculaire Murine, CNRS, URA2578, F 75015, Paris, France
    Science 321:1693-5. 2008

Detail Information

Publications409 found, 100 shown here

  1. pmc Polycomb proteins targeted by a short repeat RNA to the mouse X chromosome
    Jing Zhao
    Howard Hughes Medical Institute, Boston, MA 02115, USA
    Science 322:750-6. 2008
    ..Likewise, PRC2 deficiency compromises Xist up-regulation. Therefore, RepA, together with PRC2, is required for the initiation and spread of XCI. We conclude that a ncRNA cofactor recruits Polycomb complexes to their target locus...
  2. ncbi Systematic functional analysis of the Caenorhabditis elegans genome using RNAi
    Ravi S Kamath
    Wellcome Trust Cancer Research UK Institute and Department of Genetics, University of Cambridge, Tennis Court Road, Cambridge CB2 1QR, UK
    Nature 421:231-7. 2003
    ..Our resulting data set and reusable RNAi library of 16,757 bacterial clones will facilitate systematic analyses of the connections among gene sequence, chromosomal location and gene function in C. elegans...
  3. pmc X chromosome dosage compensation via enhanced transcriptional elongation in Drosophila
    Erica Larschan
    Division of Genetics, Department of Medicine, Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
    Nature 471:115-8. 2011
    ..MSL (Male-specific lethal) complex increases transcription on the single X chromosome of Drosophila males to equalize expression of X-linked genes between the sexes...
  4. ncbi An abundance of X-linked genes expressed in spermatogonia
    P J Wang
    Howard Hughes Medical Institute, Whitehead Institute, and Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA
    Nat Genet 27:422-6. 2001
    ..Our findings indicate that the X chromosome has a predominant role in pre-meiotic stages of mammalian spermatogenesis...
  5. doi LINE-1 activity in facultative heterochromatin formation during X chromosome inactivation
    Jennifer C Chow
    Institut Curie, Paris F 75248, France
    Cell 141:956-69. 2010
    During X chromosome inactivation (XCI), Xist RNA coats and silences one of the two X chromosomes in female cells. Little is known about how XCI spreads across the chromosome, although LINE-1 elements have been proposed to play a role...
  6. doi Natural selection shapes genome-wide patterns of copy-number polymorphism in Drosophila melanogaster
    J J Emerson
    Department of Ecology and Evolution, University of Chicago, Chicago, IL 60637, USA
    Science 320:1629-31. 2008
    ..Among duplications, those overlapping exons or introns, as well as those falling on the X chromosome, seem to be subject to stronger purifying selection.
  7. ncbi Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
    R E Amir
    Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nat Genet 23:185-8. 1999
    ..This suggests that the mother is a germline mosaic for this mutation. Our study reports the first disease-causing mutations in RTT and points to abnormal epigenetic regulation as the mechanism underlying the pathogenesis of RTT...
  8. pmc Novel genes derived from noncoding DNA in Drosophila melanogaster are frequently X-linked and exhibit testis-biased expression
    Mia T Levine
    Center for Population Biology, University of California Davis, Davis, CA 95616, USA
    Proc Natl Acad Sci U S A 103:9935-9. 2006
    ..These data support the idea that these novel genes are derived from ancestral noncoding sequence and that new, favored genes are likely to invade populations under selective pressures relating to male reproduction...
  9. ncbi Establishment of histone h3 methylation on the inactive X chromosome requires transient recruitment of Eed-Enx1 polycomb group complexes
    Jose Silva
    X Inactivation Group, MRC Clinical Sciences Centre, ICSM, Hammersmith Hospital, Du Cane Road, London W12 0NN, United Kingdom
    Dev Cell 4:481-95. 2003
    ..Here we show that recruitment of Eed-Enx1 to the inactive X chromosome (Xi) also occurs in random X inactivation in the embryo proper...
  10. doi Molecular coupling of Xist regulation and pluripotency
    Pablo Navarro
    Institut Pasteur, Unité de Génétique Moléculaire Murine, CNRS, URA2578, F 75015, Paris, France
    Science 321:1693-5. 2008
    During mouse embryogenesis, reversion of imprinted X chromosome inactivation in the pluripotent inner cell mass of the female blastocyst is initiated by the repression of Xist from the paternal X chromosome...
  11. ncbi The human XIST gene: analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus
    C J Brown
    Department of Genetics, Stanford University, California 94305
    Cell 71:527-42. 1992
    b>X chromosome inactivation in mammalian females results in the cis-limited transcriptional inactivity of most of the genes on one X chromosome...
  12. pmc Dosage compensation and demasculinization of X chromosomes in Drosophila
    Doris Bachtrog
    Department of Integrative Biology, University of California, Berkeley, Berkeley, CA 94720, USA
    Curr Biol 20:1476-81. 2010
    The X chromosome of Drosophila shows a deficiency of genes with male-biased expression, whereas mammalian X chromosomes are enriched for spermatogenesis genes expressed premeiosis and multicopy testis genes...
  13. pmc Drosophila dosage compensation: a complex voyage to the X chromosome
    Marnie E Gelbart
    Department of Medicine, Brigham and Women s Hospital, Boston, MA 02115, USA
    Development 136:1399-410. 2009
    Dosage compensation is the crucial process that equalizes gene expression from the X chromosome between males (XY) and females (XX)...
  14. doi Gene silencing in X-chromosome inactivation: advances in understanding facultative heterochromatin formation
    Anton Wutz
    Wellcome Trust Centre for Stem Cell Research, Cambridge, UK
    Nat Rev Genet 12:542-53. 2011
    ..X-chromosome inactivation is initiated in early embryogenesis by the Xist RNA that localizes to the inactive X chromosome. During development, the inactive X chromosome is further modified, a specialized form of facultative ..
  15. pmc Genome fragment of Wolbachia endosymbiont transferred to X chromosome of host insect
    Natsuko Kondo
    Department of Systems Science Biology, and Department of Biological Science at the Graduate School of Arts and Sciences, University of Tokyo, Meguro, Tokyo 153 8902, Japan
    Proc Natl Acad Sci U S A 99:14280-5. 2002
    ..analysis demonstrated that females contain around twice as much wsp titer as males, which is concordant with an X chromosome linkage. Specific PCR and Southern blot analyses indicated that the wBruAus-bearing strain of C...
  16. ncbi Silencing of unsynapsed meiotic chromosomes in the mouse
    James M A Turner
    Division of Stem Cell Research and Developmental Genetics, MRC National Institute for Medical Research, The Ridgeway, Mill Hill, London NW7 1AA, UK
    Nat Genet 37:41-7. 2005
    ..These findings impact on the interpretation of the relationship between synaptic errors and sterility in mammals and extend our understanding of the biology of Brca1...
  17. pmc Chromosome sites play dual roles to establish homologous synapsis during meiosis in C. elegans
    Amy J MacQueen
    Department of Developmental Biology, Stanford University School of Medicine, Stanford, CA 94305, USA
    Cell 123:1037-50. 2005
    ..We speculate that concentration of these activities at one region per chromosome may have coevolved with the loss of a point centromere to safeguard karyotype stability...
  18. pmc HIM-8 binds to the X chromosome pairing center and mediates chromosome-specific meiotic synapsis
    Carolyn M Phillips
    Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA 94720, USA
    Cell 123:1051-63. 2005
    ..elegans. Here we show that loss of him-8 function causes profound X chromosome-specific defects in homolog pairing and synapsis...
  19. pmc Phenotypic annotation of the mouse X chromosome
    Brian J Cox
    Program in Developmental and Stem Cell Biology, The Hospital for Sick Children Research Institute, Toronto, Ontario M5G 1L7, Canada
    Genome Res 20:1154-64. 2010
    ..We present a method for a mutational screen of the mouse X chromosome using gene trap technologies...
  20. pmc Global survey of escape from X inactivation by RNA-sequencing in mouse
    Fan Yang
    Department of Pathology, University of Washington, Seattle, Washington 98195, USA
    Genome Res 20:614-22. 2010
    ..findings are consistent with the striking differences in phenotypes between female mice and women with a single X chromosome--a near normal phenotype in mice versus Turner syndrome and multiple abnormalities in humans...
  21. ncbi Four evolutionary strata on the human X chromosome
    B T Lahn
    Howard Hughes Medical Institute, Whitehead Institute, and Department of Biology, Massachusetts Institute of Technology, 9 Cambridge Center, Cambridge, MA 02142, USA
    Science 286:964-7. 1999
    ..of individual X-Y gene pairs (measured by nucleotide divergence) and the locations of their X members on the X chromosome were found to be highly correlated...
  22. doi Impeding Xist expression from the active X chromosome improves mouse somatic cell nuclear transfer
    Kimiko Inoue
    BioResource Center, RIKEN, 305 0024 Tsukuba, Japan
    Science 330:496-9. 2010
    ..Thus, we have identified nonrandom reprogramming errors in mouse cloning that can be altered to improve the efficiency of SCNT methods...
  23. pmc 2-D structure of the A region of Xist RNA and its implication for PRC2 association
    Sylvain Maenner
    Faculte des Sciences et Techniques, AREMS, Nancy Universite, UMR 7214 CNRS UHP 1, Vandoeuvre les Nancy, France
    PLoS Biol 8:e1000276. 2010
    ..The 17 kb non-coding Xist RNA is crucial to this process and accumulates on the future inactive X chromosome. The most conserved Xist RNA region, the A region, contains eight or nine repeats separated by U-rich spacers...
  24. pmc Lack of global meiotic sex chromosome inactivation, and paucity of tissue-specific gene expression on the Drosophila X chromosome
    Lyudmila M Mikhaylova
    Department of Anatomy and Cellular Biology, Tufts University School of Medicine, Boston, USA
    BMC Biol 9:29. 2011
    Paucity of male-biased genes on the Drosophila X chromosome is a well-established phenomenon, thought to be specifically linked to the role of these genes in reproduction and/or their expression in the meiotic male germline...
  25. ncbi Chromosomal silencing and localization are mediated by different domains of Xist RNA
    Anton Wutz
    Whitehead Institute for Biomedical Research, Nine Cambridge Center, Cambridge, Massachusetts 02142, USA
    Nat Genet 30:167-74. 2002
    ..Its product, a noncoding RNA, is expressed from and specifically associates with the inactive X chromosome in female cells...
  26. doi The deficit of male-biased genes on the D. melanogaster X chromosome is expression-dependent: a consequence of dosage compensation?
    Beatriz Vicoso
    Institute of Evolutionary Biology, School of Biological Sciences, University of Edinburgh, Ashworth Laboratories, King s Buildings, West Mains Road, Edinburgh, EH9 3JT, UK
    J Mol Evol 68:576-83. 2009
    In Drosophila, there is a consistent deficit of male-biased genes on the X chromosome. It has been suggested that male-biased genes may evolve from initially unbiased genes as a result of increased expression levels in males...
  27. ncbi Conservation of position and exclusive expression of mouse Xist from the inactive X chromosome
    N Brockdorff
    Section of Comparative Biology, MRC Clinical Research Centre, Harrow, UK
    Nature 351:329-31. 1991
    ..The recently described human XIST gene maps to the XIC region and seems to be expressed only from the inactive X chromosome. We report here that the mouse Xist gene maps to the Xic region of the mouse X chromosome and, using an ..
  28. ncbi MSL complex is attracted to genes marked by H3K36 trimethylation using a sequence-independent mechanism
    Erica Larschan
    Howard Hughes Medical Institute, Brigham and Women s Hospital, 75 Francis Street, Boston, MA 02115, USA
    Mol Cell 28:121-33. 2007
    In Drosophila, X chromosome dosage compensation requires the male-specific lethal (MSL) complex, which associates with actively transcribed genes on the single male X chromosome to upregulate transcription approximately 2-fold...
  29. pmc YY1 tethers Xist RNA to the inactive X nucleation center
    Yesu Jeon
    Howard Hughes Medical Institute, Department of Molecular Biology, Massachusetts General Hospital and Department of Genetics, Harvard Medical School, Boston, MA 02114, USA
    Cell 146:119-33. 2011
    ..Here, we define the nucleation center for Xist RNA and show that YY1 docks Xist particles onto the X chromosome. YY1 is a "bivalent" protein, capable of binding both RNA and DNA through different sequence motifs...
  30. pmc Disentangling the relationship between sex-biased gene expression and X-linkage
    Richard P Meisel
    Department of Molecular Biology and Genetics, Cornell University, Ithaca, New York 14853, USA
    Genome Res 22:1255-65. 2012
    ..It is therefore unclear whether the unique gene content of the X chromosome is the result of selection on genes with sex-biased expression, narrowly expressed genes, or some combination ..
  31. pmc The "far-west" of Anopheles gambiae molecular forms
    Beniamino Caputo
    Istituto Pasteur Fondazione Cenci Bolognetti, Dipartimento di Sanità Pubblica e Malattie Infettive, Universita di Roma Sapienza, Rome, Italy
    PLoS ONE 6:e16415. 2011
    ..This issue and the perspectives opened by these results in the study of the M and S incipient speciation process are discussed...
  32. pmc Expression in aneuploid Drosophila S2 cells
    Yu Zhang
    Laboratory of Cellular and Developmental Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS Biol 8:e1000320. 2010
    ..Both X chromosomes and autosomes showed expression dosage compensation. X chromosome expression was elevated in a fixed-fold manner regardless of actual gene dose...
  33. doi X inactivation and the complexities of silencing a sex chromosome
    Jennifer Chow
    Mammalian Developmental Epigenetics Group, Institut Curie, CNRS UMR3215, INSERM 934, 26 Rue d Ulm, Paris 75005, France
    Curr Opin Cell Biol 21:359-66. 2009
    b>X chromosome inactivation represents a paradigm for monoallelic gene expression and epigenetic regulation in mammals...
  34. ncbi Methylation of histone H3 at Lys-9 is an early mark on the X chromosome during X inactivation
    E Heard
    Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA
    Cell 107:727-38. 2001
    Coating of the X chromosome by Xist RNA is an essential trigger for X inactivation. However, little is known about the early chromatin remodeling events that transform this signal into transcriptional silencing...
  35. pmc The pluripotency factor Oct4 interacts with Ctcf and also controls X-chromosome pairing and counting
    Mary E Donohoe
    Howard Hughes Medical Institute, USA
    Nature 460:128-32. 2009
    ..undergo global epigenetic reprogramming, as exemplified by X-chromosome inactivation (XCI) in which one female X chromosome is silenced to achieve gene dosage parity between the sexes...
  36. ncbi Postmeiotic sex chromatin in the male germline of mice
    Satoshi H Namekawa
    Howard Hughes Medical Institute, Department of Molecular Biology, Massachusetts General Hospital, Boston, 02114, USA
    Curr Biol 16:660-7. 2006
    ..We conclude that chromosome-wide X silencing continues from meiosis to the end of spermiogenesis, and we discuss implications for proposed mechanisms of imprinted X-inactivation...
  37. ncbi Expression of Xist during mouse development suggests a role in the initiation of X chromosome inactivation
    G F Kay
    Section of Comparative Biology, Medical Research Council Clinical Research Centre, Harrow, England
    Cell 72:171-82. 1993
    ..The mouse Xist gene maps to the X inactivation center (Xic) region and is expressed exclusively from the inactive X chromosome. It is thus a candidate gene for the Xic...
  38. ncbi Contrasting patterns of X-linked and autosomal nucleotide variation in Drosophila melanogaster and Drosophila simulans
    P Andolfatto
    Institute of Cell, Animal and Population Biology, University of Edinburgh, Edinburgh, Scotland
    Mol Biol Evol 18:279-90. 2001
    ..A simple "out of Africa" bottleneck scenario is consistent with geographic patterns for loci on the X chromosome but not with loci on the autosomes...
  39. pmc Global analysis of the relationship between JIL-1 kinase and transcription
    Catherine Regnard
    Adolf Butenandt Institute and Centre for Integrated Protein Science CiPSM, Ludwig Maximilians University, Munich, Germany
    PLoS Genet 7:e1001327. 2011
    ..by approximately twofold elevated JIL-1 levels, which is particularly prominent on the dosage-compensated male X chromosome. Phosphorylation of the histone H3 N-terminus by JIL-1 in vitro is compatible with other tail modifications...
  40. pmc An excess of gene expression divergence on the X chromosome in Drosophila embryos: implications for the faster-X hypothesis
    Melek A Kayserili
    Max Planck Institute for Molecular Cell Biology and Genetics, Dresden, Germany
    PLoS Genet 8:e1003200. 2012
    The X chromosome is present as a single copy in the heterogametic sex, and this hemizygosity is expected to drive unusual patterns of evolution on the X relative to the autosomes...
  41. pmc Codon usage bias and effective population sizes on the X chromosome versus the autosomes in Drosophila melanogaster
    José L Campos
    Institute of Evolutionary Biology, School of Biological Sciences, University of Edinburgh, Edinburgh, United Kingdom
    Mol Biol Evol 30:811-23. 2013
    ..One possible explanation is that the higher effective recombination rate for genes on the X chromosome compared with the autosomes reduces their susceptibility to Hill-Robertson effects, and thus enhances the ..
  42. doi Evidence that meiotic sex chromosome inactivation is essential for male fertility
    Helene Royo
    Department of Stem Cell Research and Developmental Genetics, MRC National Institute for Medical Research, Mill Hill, London NW7 1AA, UK
    Curr Biol 20:2117-23. 2010
    ..1/2 paralogs in XY males is sufficient to phenocopy the pachytene arrest phenotype; insertion of Zfy 1/2 on the X chromosome where they are subject to MSCI prevents this response...
  43. pmc Maternal Rnf12/RLIM is required for imprinted X-chromosome inactivation in mice
    Jongdae Shin
    Program in Gene Function and Expression, University of Massachusetts Medical School UMMS, Worcester, Massachusetts 01605, USA
    Nature 467:977-81. 2010
    ..These results assign crucial functions to the maternal deposit of Rnf12/RLIM for the initiation of imprinted XCI...
  44. pmc A molecularly defined duplication set for the X chromosome of Drosophila melanogaster
    Koen J T Venken
    Department of Molecular and Human Genetics, Howard Hughes Medical Institute, Baylor College of Medicine, Houston, Texas 77030, USA
    Genetics 186:1111-25. 2010
    We describe a molecularly defined duplication kit for the X chromosome of Drosophila melanogaster...
  45. pmc Nuclear pore proteins nup153 and megator define transcriptionally active regions in the Drosophila genome
    Juan M Vaquerizas
    European Bioinformatics Institute, Cambridge, United Kingdom
    PLoS Genet 6:e1000846. 2010
    ..in coordinating dosage compensation-an organism-wide process involving the doubling of expression of the male X chromosome. NARs are enriched on the male X chromosome and occupy 75% of this chromosome...
  46. pmc Retroposed new genes out of the X in Drosophila
    ESTHER BETRAN
    Department of Ecology and Evolution, The University of Chicago, Chicago, Illinois 60637, USA
    Genome Res 12:1854-9. 2002
    ..There is a significant excess of retrogenes that originate from the X chromosome and retropose to autosomes; new genes retroposed from autosomes are scarce...
  47. pmc Distinctly different sex ratios in African and European populations of Drosophila melanogaster inferred from chromosomewide single nucleotide polymorphism data
    Stephan Hutter
    Section of Evolutionary Biology, Biocenter, University of Munich, 82152 Planegg Martinsried, Germany
    Genetics 177:469-80. 2007
    ..The patterns of the frequency spectrum and the levels of linkage disequilibrium observed in Europe suggest that, in addition, positive selection must have acted in the derived population...
  48. pmc What does the "four core genotypes" mouse model tell us about sex differences in the brain and other tissues?
    Arthur P Arnold
    Department of Physiological Science, Laboratory of Neuroendocrinology of the Brain Research Institute, University of California, Los Angeles, CA 90095 1606, USA
    Front Neuroendocrinol 30:1-9. 2009
    ..Some sex chromosome effects are mediated by sex differences in dose of X genes or their parental imprint. Future studies will identify the genes involved and their mechanisms of action...
  49. pmc Live-cell chromosome dynamics and outcome of X chromosome pairing events during ES cell differentiation
    Osamu Masui
    Institut Curie, Paris, France
    Cell 145:447-58. 2011
    ..In mice, the choice of X chromosome to inactivate in XX cells is ensured by monoallelic regulation of Xist RNA via its antisense transcription unit ..
  50. doi Genome-wide analysis reveals MOF as a key regulator of dosage compensation and gene expression in Drosophila
    Jop Kind
    Gene Expression Unit, European Molecular Biology Laboratory, Meyerhofstrasse 1, 69117 Heidelberg, Germany
    Cell 133:813-28. 2008
    ..MOF displays differential binding behavior depending on whether the target gene is located on the X chromosome versus the autosomes...
  51. ncbi Xist-deficient mice are defective in dosage compensation but not spermatogenesis
    Y Marahrens
    Whitehead Institute for Biomedical Research, Cambridge, Massachusetts 02142, USA
    Genes Dev 11:156-66. 1997
    ..Females that inherited the mutation from their mothers were also normal and had the wild-type paternal X chromosome inactive in every cell...
  52. pmc Evolution from XIST-independent to XIST-controlled X-chromosome inactivation: epigenetic modifications in distantly related mammals
    Julie Chaumeil
    Comparative Genomics Group, Evolution Ecology and Genetics, Research School of Biology, The Australian National University, Canberra, Australian Capital Territory, Australia
    PLoS ONE 6:e19040. 2011
    b>X chromosome inactivation (XCI) is the transcriptional silencing of one X in female mammals, balancing expression of X genes between females (XX) and males (XY)...
  53. ncbi Histone macroH2A1 is concentrated in the inactive X chromosome of female mammals
    C Costanzi
    Department of Animal Biology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia 19104, USA
    Nature 393:599-601. 1998
    ..The inactive X chromosome is distinguished from its active counterpart by its condensed appearance in interphase nuclei, late replication,..
  54. ncbi Functional coherence of the human Y chromosome
    B T Lahn
    Howard Hughes Medical Institute, Whitehead Institute, and Department of Biology, Massachusetts Institute of Technology, 9 Cambridge Center, Cambridge, MA 02142, USA
    Science 278:675-80. 1997
    ..The coherence of the NRY's gene content contrasts with the apparently haphazard content of most eukaryotic chromosomes...
  55. pmc The role of background selection in shaping patterns of molecular evolution and variation: evidence from variability on the Drosophila X chromosome
    Brian Charlesworth
    Institute of Evolutionary Biology, School of Biological Sciences, University of Edinburgh, Edinburgh EH9 3JT, United Kingdom
    Genetics 191:233-46. 2012
    ..selection (the hitchhiking effect of deleterious mutations) is more effective on the autosomes than on the X chromosome, because of the lack of crossing over in male Drosophila...
  56. pmc High-resolution analysis of epigenetic changes associated with X inactivation
    Hendrik Marks
    Department of Molecular Biology, Faculty of Science, Nijmegen Centre for Molecular Life Sciences NCMLS, Radboud University Nijmegen, Nijmegen, The Netherlands
    Genome Res 19:1361-73. 2009
    Differentiation of female murine ES cells triggers silencing of one X chromosome through X-chromosome inactivation (XCI)...
  57. pmc Noncanonical compensation of zygotic X transcription in early Drosophila melanogaster development revealed through single-embryo RNA-seq
    Susan E Lott
    Department of Molecular and Cell Biology, University of California, Berkeley, California, United States of America
    PLoS Biol 9:e1000590. 2011
    ..zygotic transcription around mitotic cycle 10, the dose-sensitive expression of specialized genes on the X chromosome triggers a sex-determination cascade that, among other things, compensates for differences in sex chromosome ..
  58. pmc Extensive meiotic asynapsis in mice antagonises meiotic silencing of unsynapsed chromatin and consequently disrupts meiotic sex chromosome inactivation
    Shantha K Mahadevaiah
    Division of Stem Cell Biology and Developmental Genetics, Medical Research Council National Institute for Medical Research, London NW7 1AA, England, UK
    J Cell Biol 182:263-76. 2008
    ..Apoptosis does not occur in mice with a single additional asynapsed chromosome with unrepaired meiotic DSBs and no disturbance of MSCI...
  59. pmc Hyperexpression of the X chromosome in both sexes results in extensive female bias of X-linked genes in the flour beetle
    Eldon G Prince
    Department of Biology, The University of Texas at Arlington, USA
    Genome Biol Evol 2:336-46. 2010
    ..castaneum is distinctly nonrandom, with the strongest deficit of male-biased genes on the X chromosome (9 of 793) of any species studied to date...
  60. pmc Effective population size and the efficacy of selection on the X chromosomes of two closely related Drosophila species
    Peter Andolfatto
    Department of Ecology and Evolutionary Biology and Lewis Sigler Institute for Integrative Genomics, Princeton University, USA
    Genome Biol Evol 3:114-28. 2011
    ....
  61. pmc XIST RNA paints the inactive X chromosome at interphase: evidence for a novel RNA involved in nuclear/chromosome structure
    C M Clemson
    Department of Cell Biology, University of Massachusetts Medical Center, Worcester 01655, USA
    J Cell Biol 132:259-75. 1996
    The XIST gene is implicated in X chromosome inactivation, yet the RNA contains no apparent open reading frame. An accumulation of XIST RNA is observed near its site of transcription, the inactive X chromosome (Xi)...
  62. ncbi Direct evidence of a role for heterochromatin in meiotic chromosome segregation
    A F Dernburg
    Department of Biochemistry and Biophysics, University of California, San Francisco 94143 0554, USA
    Cell 86:135-46. 1996
    ....
  63. doi Female-biased expression on the X chromosome as a key step in sex chromosome evolution in threespine sticklebacks
    Erica H Leder
    Division of Genetics and Physiology, Department of Biology Vesilinnantie 5, University of Turku, Turku, Finland
    Mol Biol Evol 27:1495-503. 2010
    ....
  64. ncbi X inactivation in the mouse embryo deficient for Dnmt1: distinct effect of hypomethylation on imprinted and random X inactivation
    T Sado
    Cardiovascular Research Center, Cancer Center and Department of Medicine, Harvard Medical School, Massachusetts General Hospital East, 149, 13th Street, Charlestown, Massachusetts 02129, USA
    Dev Biol 225:294-303. 2000
    ....
  65. pmc Paucity of genes on the Drosophila X chromosome showing male-biased expression
    Michael Parisi
    Laboratory of Cellular and Developmental Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892 8028, USA
    Science 299:697-700. 2003
    ..These data indicate that the X chromosome is a disfavored location for genes selectively expressed in males.
  66. ncbi A conserved checkpoint monitors meiotic chromosome synapsis in Caenorhabditis elegans
    Needhi Bhalla
    Life Sciences Division, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA
    Science 310:1683-6. 2005
    ..Apoptosis due to synaptic failure also requires the C. elegans homolog of PCH2, a budding yeast pachytene checkpoint gene, which suggests that this surveillance mechanism is widely conserved...
  67. pmc X chromosome inactivation during Drosophila spermatogenesis
    Winfried Hense
    Department of Biology II, University of Munich, Planegg Martinsried, Germany
    PLoS Biol 5:e273. 2007
    Genes with male- and testis-enriched expression are under-represented on the Drosophila melanogaster X chromosome. There is also an excess of retrotransposed genes, many of which are expressed in testis, that have "escaped" the X ..
  68. ncbi Identification of a Ctcf cofactor, Yy1, for the X chromosome binary switch
    Mary E Donohoe
    Howard Hughes Medical Institute, USA
    Mol Cell 25:43-56. 2007
    In mammals, inactivation of one X chromosome in the female equalizes gene dosages between XX females and XY males...
  69. ncbi Tsix silences Xist through modification of chromatin structure
    Takashi Sado
    Division of Human Genetics, National Institute of Genetics, Research Organization of Information and Systems, Japan
    Dev Cell 9:159-65. 2005
    ..Moreover, we show that disruption of Tsix impairs establishment of repressive epigenetic modifications and chromatin structure at the Xist locus. We propose that Tsix silences Xist through modification of the chromatin structure...
  70. doi Physical map of two tammar wallaby chromosomes: a strategy for mapping in non-model mammals
    Janine E Deakin
    ARC Centre of Excellence for Kangaroo Genomics, Research School of Biological Sciences, The Australian National University, Canberra, ACT 0200, Australia
    Chromosome Res 16:1159-75. 2008
    ..Frequent rearrangement of the X, along with the absence of a marsupial XIST gene, suggests that inactivation of the marsupial X chromosome does not depend on a whole-chromosome repression by a control locus.
  71. ncbi The product of the mouse Xist gene is a 15 kb inactive X-specific transcript containing no conserved ORF and located in the nucleus
    N Brockdorff
    Section of Comparative Biology, Medical Research Council Clinical Research Centre, Harrow, England
    Cell 71:515-26. 1992
    ..Together with conservation of inactive X-specific expression, these findings support a role for Xist in X inactivation, possibly as a functional RNA or as a chromatin organizer region...
  72. doi SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation
    Marnie E Blewitt
    The Division of Molecular Medicine, Walter and Eliza Hall Institute of Medical Research, Melbourne, and The Department of Medical Biology, The University of Melbourne, VIC 3050, Australia
    Nat Genet 40:663-9. 2008
    ..This finding links a group of proteins normally associated with structural aspects of chromosome biology with epigenetic gene silencing...
  73. pmc Spreading of X chromosome inactivation via a hierarchy of defined Polycomb stations
    Stefan F Pinter
    Howard Hughes Medical Institute, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
    Genome Res 22:1864-76. 2012
    b>X chromosome inactivation (XCI) achieves dosage balance in mammals by repressing one of two X chromosomes in females...
  74. pmc A complex genetic basis to X-linked hybrid male sterility between two species of house mice
    Jeffrey M Good
    Department of Ecology and Evolutionary Biology, University of Arizona, Tucson, Arizona 85721, USA
    Genetics 179:2213-28. 2008
    The X chromosome plays a central role in the evolution of reproductive isolation, but few studies have examined the genetic basis of X-linked incompatibilities during the early stages of speciation...
  75. pmc Haldane's sieve and adaptation from the standing genetic variation
    H A Orr
    Department of Biology, University of Rochester, Rochester, NY 14627, USA
    Genetics 157:875-84. 2001
    ..autosomal loci. Last, we suggest a test to determine whether adaptation used new mutations or previously deleterious alleles from the standing genetic variation...
  76. pmc The Xist lncRNA exploits three-dimensional genome architecture to spread across the X chromosome
    Jesse M Engreitz
    Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA
    Science 341:1237973. 2013
    ..During the maintenance of XCI, Xist binds broadly across the X chromosome. During initiation of XCI, Xist initially transfers to distal regions across the X chromosome that are not ..
  77. pmc Lineage-specific function of the noncoding Tsix RNA for Xist repression and Xi reactivation in mice
    Tatsuya Ohhata
    The Wellcome Trust Centre for Stem Cell Research, University of Cambridge, Cambridge CB2 1QR, United Kingdom
    Genes Dev 25:1702-15. 2011
    ..Tsix is essential for preventing the inactivation of the maternally inherited X chromosome in extraembryonic lineages where imprinted X-chromosome inactivation (XCI) occurs...
  78. pmc X chromosome reactivation initiates in nascent primordial germ cells in mice
    Michihiko Sugimoto
    Technology and Development Team for Mammalian Cellular Dynamics, BioResource Center, RIKEN Tsukuba Institute, Tsukuba, Ibaraki, Japan
    PLoS Genet 3:e116. 2007
    During primordial germ cell (PGC) development, epigenetic reprogramming events represented by X chromosome reactivation and erasure of genomic imprinting are known to occur...
  79. pmc Fine-scale heterogeneity in crossover rate in the garnet-scalloped region of the Drosophila melanogaster X chromosome
    Nadia D Singh
    Department of Genetics, North Carolina State University, Raleigh, NC 27695, USA
    Genetics 194:375-87. 2013
    ..1-Mb region of the Drosophila melanogaster X chromosome by localizing crossover breakpoints in 2500 individuals, each containing a single crossover in this specific X ..
  80. doi X chromosome inactivation in the cycle of life
    Tahsin Stefan Barakat
    Department of Reproduction and Development, Erasmus MC, University Medical Center, 3015GE Rotterdam, The Netherlands
    Development 139:2085-9. 2012
    ..Depending on the developmental time window, imprinted or random X chromosome inactivation (XCI) is initiated, and both processes lead to an inactive X chromosome that is clonally inherited...
  81. pmc Rsx is a metatherian RNA with Xist-like properties in X-chromosome inactivation
    Jennifer Grant
    MRC National Institute for Medical Research, The Ridgeway, Mill Hill, London NW71AA, UK
    Nature 487:254-8. 2012
    ..is a large, repeat-rich RNA that is expressed only in females and is transcribed from, and coats, the inactive X chromosome. In female germ cells, in which both X chromosomes are active, Rsx is silenced, linking Rsx expression to X-..
  82. pmc Epigenetic modifications on X chromosomes in marsupial and monotreme mammals and implications for evolution of dosage compensation
    Willem Rens
    Department of Veterinary Medicine, University of Cambridge, Cambridge CB3 OES, United Kingdom
    Proc Natl Acad Sci U S A 107:17657-62. 2010
    b>X chromosome dosage compensation in female eutherian mammals is regulated by the noncoding Xist RNA and is associated with the differential acquisition of active and repressive histone modifications, resulting in repression of most genes ..
  83. pmc General gene movement off the X chromosome in the Drosophila genus
    Maria D Vibranovski
    Department of Ecology and Evolution, The University of Chicago, Chicago, IL 60637, USA
    Genome Res 19:897-903. 2009
    In Drosophila melanogaster, there is an excess of genes duplicated by retroposition from the X chromosome to the autosomes. Most of those retrogenes that originated on the X chromosome have testis expression pattern...
  84. pmc msl2 mRNA is bound by free nuclear MSL complex in Drosophila melanogaster
    Anna Mia Johansson
    Department of Molecular Biology, Umea University, SE 90187 Umea, Sweden
    Nucleic Acids Res 39:6428-39. 2011
    In Drosophila, the global increase in transcription from the male X chromosome to compensate for its monosomy is mediated by the male-specific lethal (MSL) complex consisting of five proteins and two non-coding RNAs, roX1 and roX2...
  85. pmc Adaptive evolution of genes duplicated from the Drosophila pseudoobscura neo-X chromosome
    Richard P Meisel
    Intercollege Graduate Program in Genetics, The Pennsylvania State University, PA, USA
    Mol Biol Evol 27:1963-78. 2010
    ..pseudoobscura neo-X chromosome, we analyzed DNA sequence divergence between paralogs, polymorphism within each copy, and the expression ..
  86. pmc X-linked genes evolve higher codon bias in Drosophila and Caenorhabditis
    Nadia D Singh
    Stanford University, Stanford, California 94305, USA
    Genetics 171:145-55. 2005
    ..Here we investigate patterns of codon bias evolution on the X chromosome and autosomes in Drosophila and Caenorhabditis...
  87. doi X-changing information on X inactivation
    Tahsin Stefan Barakat
    Department of Reproduction and Development, Room Ee 09 71, Erasmus MC, PO Box 2040, 3000 CA Rotterdam, The Netherlands
    Exp Cell Res 316:679-87. 2010
    In female somatic cells of mammalian species one X chromosome is inactivated to ensure dosage equality of X-encoded genes between females and males, during development and adulthood...
  88. doi The activation potential of MOF is constrained for dosage compensation
    Matthias Prestel
    Adolf Butenandt Institute and Centre for Integrated Protein Science, Ludwig Maximilians University, 80336 Munich, Germany
    Mol Cell 38:815-26. 2010
    ..These different targeting principles define the distribution of MOF between the X chromosome and autosomes and at transcription units with 5' or 3' enrichment...
  89. pmc An MLL/COMPASS subunit functions in the C. elegans dosage compensation complex to target X chromosomes for transcriptional regulation of gene expression
    Rebecca R Pferdehirt
    Howard Hughes Medical Institute, University of California at Berkeley, Berkeley, California 94720, USA
    Genes Dev 25:499-515. 2011
    ..We also show that the DCC balances X-chromosome gene expression between sexes by controlling transcription...
  90. pmc Meiotic pairing and imprinted X chromatin assembly in Caenorhabditis elegans
    Christopher J Bean
    Biology Department, 1510 Clifton Road, Rollins Research Center, Emory University, Atlanta, Georgia 30322, USA
    Nat Genet 36:100-5. 2004
    ..We describe a sperm-specific chromatin-based imprinting of the X chromosome in the nematode Caenorhabditis elegans that is restricted to histone H3 modifications...
  91. doi Physical mapping of the elephant X chromosome: conservation of gene order over 105 million years
    Claudia Leticia Rodríguez Delgado
    Comparative Genomics Group, Research School of Biology, The Australian National University, GPO Box 475, ACT 2601, Canberra, Australia
    Chromosome Res 17:917-26. 2009
    ..which belong to the eutherian clade Boreoeutheria), but it is uncertain whether XAR is part of the X chromosome in more distantly related eutherian mammals...
  92. ncbi Hybrid sterility in the mouse
    J Forejt
    Laboratory of Mammalian Molecular Genetics, Academy of Sciences of the Czech Republic, Prague, Czech Republic
    Trends Genet 12:412-7. 1996
    ..rearrangements show the same meiotic phenotype: partially asynaptic, rearranged autosomes associate with the X Chromosome. Thus, the X-Chromosome inactivation in the male meiosis might function as a checkpoint leading to the meiotic ..
  93. ncbi African and North American populations of Drosophila melanogaster are very different at the DNA level
    D J Begun
    Cornell University, Section of Genetics and Development, Ithaca, New York 14853
    Nature 365:548-50. 1993
    ..It appears that there is an unappreciated degree of population structure in D. melanogaster and that equilibrium models of molecular evolution are inappropriate for this species...
  94. ncbi Ring1b-mediated H2A ubiquitination associates with inactive X chromosomes and is involved in initiation of X inactivation
    Jia Fang
    Department of Biochemistry and Biophysics, Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599 7295, USA
    J Biol Chem 279:52812-5. 2004
    ..As a model system for understanding epigenetic silencing, X chromosome inactivation has been previously linked to a number of histone modifications including methylation and ..
  95. pmc Weak but uniform enrichment of the histone variant macroH2A1 along the inactive X chromosome
    Flore Mietton
    Institut Albert Bonniot, INSERM UJF U823, Site Santé BP 170, 38042 Grenoble Cedex 9, France
    Mol Cell Biol 29:150-6. 2009
    ..5-fold more mH2A1 than the autosomes. To determine the in vivo distribution of mH2A1 along the X chromosome, we used a native chromatin immunoprecipitation-on-chip technique...
  96. pmc Nanog is the gateway to the pluripotent ground state
    Jose Silva
    Wellcome Trust Centre for Stem Cell Research, University of Cambridge, Cambridge CB2 1QR, UK
    Cell 138:722-37. 2009
    ..In the embryo, Nanog specifically demarcates the nascent epiblast, coincident with the domain of X chromosome reprogramming...
  97. pmc Age-dependent chromosomal distribution of male-biased genes in Drosophila
    Yong E Zhang
    Department of Ecology and Evolution, University of Chicago, Chicago, Illinois 60637, USA
    Genome Res 20:1526-33. 2010
    ..pseudoobscura neo-X chromosome and microRNA genes of D. melanogaster...
  98. doi Dosage compensation in Drosophila melanogaster: epigenetic fine-tuning of chromosome-wide transcription
    Thomas Conrad
    Max Planck Institute of Immunobiology and Epigenetics, Stubeweg 51, 79108 Freiburg im Breisgau, Germany
    Nat Rev Genet 13:123-34. 2011
    ..In Drosophila melanogaster, transcription of the single male X chromosome is upregulated by twofold in a process orchestrated by the dosage compensation complex...
  99. doi Eutherian mammals use diverse strategies to initiate X-chromosome inactivation during development
    Ikuhiro Okamoto
    Mammalian Developmental Epigenetics Group, Institut Curie, CNRS UMR 3215, INSERM U934, Paris 75248, France
    Nature 472:370-4. 2011
    ..The developmental regulation of this process has been extensively investigated in mice, where the X chromosome of paternal origin (Xp) is silenced during early embryogenesis owing to imprinted expression of the regulatory ..
  100. ncbi Genetic analysis of X-linked hybrid sterility in the house mouse
    Radka Storchova
    Institute of Molecular Genetics AS CR, 14220 Prague, Czech Republic
    Mamm Genome 15:515-24. 2004
    ..Mapping and cloning of Hstx1 and other genes responsible for sterility of B6-X PWD Y B6 males could help to elucidate the special role of Chr X in hybrid sterility and consequently in speciation...
  101. ncbi Histone H3 lysine 9 methylation is an epigenetic imprint of facultative heterochromatin
    Antoine H F M Peters
    Research Institute of Molecular Pathology, The Vienna Biocenter, Dr Bohrgasse 7, A 1030 Vienna, Austria
    Nat Genet 30:77-80. 2002
    ..Here, we show that H3-Lys9 methylation also occurs in facultative heterochromatin of the inactive X chromosome (Xi) in female mammals...

Research Grants75

  1. Novel genomic effects of Y-linked polymorphisms
    Daniel L Hartl; Fiscal Year: 2012
    ..Eventually the pericentromeric heterochromatin of the X chromosome and autosomes must also be studied, but the Drosophila Y chromosome is the place to start because of its low ..
  2. STATISITICAL DESIGN, MONITORING &COORD. OF VISION CLINICAL TRIALS &EPIDEMIOLOGY
    Keri Hammel; Fiscal Year: 2013
    ..A few studies recording very small eye movements will require three or more sessions. Title: Ocular Impact of X Chromosome Karyotype and Sex Hormones in Turner Syndrome and Premature Ovarian Failure Number: 07-EI-0145 Summary: Women ..
  3. STATISITICAL DESIGN, MONITORING &COORD. OF VISION CLINICAL TRIALS &EPIDEMIOLOGY
    Keri Hammel; Fiscal Year: 2012
    ..A few studies recording very small eye movements will require three or more sessions. Title: Ocular Impact of X Chromosome Karyotype and Sex Hormones in Turner Syndrome and Premature Ovarian Failure Number: 07-EI-0145 Summary: Women ..
  4. Role of the Y-Located TSPY Gene in Human Oncogenesis
    Yun Fai Chris Lau; Fiscal Year: 2013
    ..TSPX is a single-copy TSPY homologue on the X chromosome. Both TSPY and TSPX share significant homologies at both gene organization and protein structure...
  5. Effects of Testosterone and Genetic Factors on Psychological and Motor Function i
    NICOLE RENEE TARTAGLIA; Fiscal Year: 2013
    ..therapy in KS/XXY, including androgen-receptor (AR) polymorphisms and parent-of-origin of the extra X chromosome. Our preliminary studies suggest that testosterone therapy started in early adolescence improves attention and ..
  6. Chemical modulators of Tet-family proteins
    Anjana Rao; Fiscal Year: 2010
    ..These molecules will be useful for further investigations into the biological functions of TET proteins, and may eventually be used in the clinic to treat Rett syndrome and other diseases of DNA methylation. ..
  7. X chromosome, injury and infection
    Zoltan Spolarics; Fiscal Year: 2012
    ..This project will test the question of whether the presence of cellular mosaicism of X chromosome-linked protein variants in females represents a functionally adaptive cellular system that is advantageous ..
  8. Regulation of insulins by the Rhox5 homeobox gene supports spermatogenesis
    James Maclean; Fiscal Year: 2009
    ..Many of these reproductive homeobox on the X chromosome (Rhox) genes are androgen regulated and most are expressed in Sertoli cells (the nurse cells that support ..
  9. Roles of RNA Polymerases IV and V in siRNA-mediated gene silencing
    CRAIG STUART PIKAARD; Fiscal Year: 2013
    ..Our studies of RNA polymerases IV and V are significant with respect to all of these areas, especially the roles of intergenic noncoding RNAs and siRNAs in chromatin-mediated gene silencing. ..
  10. Role of Sex Chromosome Complement in the CNS during Autoimmune Disease
    Sienmi Du; Fiscal Year: 2013
    ..Specifically, X chromosome genes may exert a protective effect in the CNS in response to injury...
  11. 2011 Epigenetics Gordon Research Conference
    Marisa S Bartolomei; Fiscal Year: 2011
    ..Basic science studies of such intriguing phenomena as X chromosome inactivation, gametic imprinting, position effect variegation, gene dosage control, paramutation, nucleolar ..
  12. ANALYSIS OF NEMATODE SEX DETERMINATION
    Barbara J Meyer; Fiscal Year: 2013
    ..We have identified cis-acting regulatory elements that target the X chromosome for repression by the DCC and discovered fundamental principles by which the DCC recognizes and binds X...
  13. Sex chromosome aneuploidies in autoimmune disease
    R Hal Scofield; Fiscal Year: 2013
    ..Therefore, based on these data, the PI has proposed an X chromosome gene effect for SLE, which is a new hypothesis for the sex bias found in SLE. New data support this notion...
  14. GENETIC ASPECTS OF DNA METHYLATION
    Eric U Selker; Fiscal Year: 2012
    ..Neurospora crassa to elucidate the control and function of DNA methylation, an pigenetic process required for X chromosome-inactivation, genomic imprinting and normal development in mammals...
  15. Translating Dosage Compensation to Trisomy
    Jeanne Bentley Lawrence; Fiscal Year: 2010
    ..We propose to translate the mechanism that nature devised to silence one X chromosome in mammalian female embryos to "dosage compensate" trisomy 21, primarily in induced pluripotent stem cells ..
  16. Mouse X Inactivation
    Christine M Disteche; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): X inactivation results in silencing of genes on one X chromosome in females. However, a number of genes escape from X inactivation...
  17. Epigenetic control of sex chromosome behavior in meiosis.
    JoAnne Engebrecht; Fiscal Year: 2013
    ..repair and checkpoint suppression occur in the context of a specialized chromatin structure found only on the X chromosome of males...
  18. The Role of DNMT3B in the DNA Methylation of Cancer Cells
    LUCY ANN GODLEY; Fiscal Year: 2012
    ..abstract_text> ..
  19. GENETIC ASPECTS OF DNA METHYLATION
    Eric U Selker; Fiscal Year: 2013
    ..3. To characterize modifiers of DNA methylation and silencing. 4. To characterize silencing mutants that do not show DNA methylation defects. ..
  20. Molecular genetic control of the immature female mosquito vector
    Helen Benes; Fiscal Year: 2012
    ..I-PpoI expression is predicted to "shred" the X chromosome, resulting in the death of fat body cells. We will generate transgenic An...
  21. Characterization of the Mechanisms Responsible for Sex Based Outcome Difference F
    JASON LEE SPERRY; Fiscal Year: 2013
    ..The goal of this study is to determine if the early sex hormone environment soon after injury and X-chromosome genetic polymorphisms are responsible for these sex based outcome differences following injury. ..
  22. Stability of epigenetic structures in ART children
    Carmen Sapienza; Fiscal Year: 2010
    ..The incidence of abnormal epigenetic marks will be compared between the two populations to determine whether any aspect of the ART procedure results in destabilization of epigenetic structures in the genomes of early human embryos. ..
  23. Heterochromatin on the human inactive X chromosome
    Brian P Chadwick; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): X chromosome inactivation is an essential mammalian epigenetic process that serves to balance the levels of X-linked gene expression between the sexes...
  24. Regulation of mammary gland biology by RLIM/Rnf12 and the paternal X chromosome
    INGOLF M BACH; Fiscal Year: 2013
    ..dosage compensation, female cells selectively inactivate one of their two X chromosomes in a process called X chromosome inactivation (XCI), a form of epigenetic regulation...
  25. Genetic analysis of DNA methylation in Neurospora crassa
    ANDREW DAVID KLOCKO; Fiscal Year: 2013
    ..In addition, identifying putative genes that could become mutated for the progression of cancer is essential to develop treatments or prevention strategies for cancer patients. ..
  26. Mechanisms of Increased Lung Fibrosis in Males
    ISELA CARIDAD VALERA; Fiscal Year: 2013
    ..The gene for IL-13RA2 is located on X chromosome. Thus, compared to XX mice, the immunized XY mice have reduced expression of IL-13RA2, leading to increased IL-..
  27. Regulation of RNA Surveillance
    MILES FROME WILKINSON; Fiscal Year: 2012
    ..have been selected for during the evolution of higher eukaryotes because its paralog, UPF3B, is present on the X chromosome, which is known to be transcriptionally inactivated during meiosis in male germ cells...
  28. Identification of DNA Elements Governing Chromatin Function in C elegans
    Jason D Lieb; Fiscal Year: 2011
    ..that specify nucleosome positioning and occupancy, control domains of gene expression, induce repression of the X chromosome, guide mitotic segregation and genome duplication, govern homolog pairing and recombination during meiosis, and ..
  29. MOLECULAR GENETICS OF DOSAGE COMPENSATION IN DROSOPHILA
    MITZI KURODA; Fiscal Year: 2013
    ..This process has evolved to make X-linked gene expression equivalent in males with one X chromosome and females with two...
  30. In vivo imaging of X inactivation
    Matthew Levy; Fiscal Year: 2013
    ..We propose to develop a system for in vivo imaging of the epigenetic regulatory processes involved in X chromosome inactivation...
  31. Use of a Fragile X premutation knock-in mouse to study FXPOI
    Joshua Johnson; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): FMR1 is a gene on the X chromosome that contains an expansion-prone CGG[unreadable]CCG repeat in its 5'untranslated region...
  32. Small RNA and whole chromosome recognition in Drosophila melanogaster.
    Victoria H Meller; Fiscal Year: 2013
    ..An intriguing type of epigenetic regulation, X chromosome dosage compensation, adjusts the expression of X-linked genes in one sex to accommodate the different numbers ..
  33. Organization of the inactive X-chromosome
    Yuya Ogawa; Fiscal Year: 2013
    ..The proposed study in gene regulation during X-inactivation will potentially reveal a universal role for long non-protein coding (non-coding) RNAs in a wide variety of biological processes. ..
  34. MOLECULAR GENETICS OF NUCLEOLAR DOMINANCE
    CRAIG STUART PIKAARD; Fiscal Year: 2012
    ..that occurs in nucleolar dominance happens on a scale of millions of basepairs, second in scope only to X chromosome inactivation in female mammals...
  35. Polycomb complexes targeted to specific loci by non-coding RNA co-factors
    Jeannie T Lee; Fiscal Year: 2013
    ....
  36. Dosage Compensation in Drosophila: Establishing Coordinate Gene Regulation
    MARCELA SORUCO; Fiscal Year: 2013
    ..proteins and several well-defined non-coding RNAs which together increases transcript levels of the single X chromosome in males by two-fold to equalize expression levels with the two X-chromosomes in females and with the other ..
  37. Genomic Instability in Ageing and Cancer
    David J Araten; Fiscal Year: 2013
    ..Studies under aim (b) will be critical for predicting the optimal drug targets and pharmacologic strategy for reducing [unreadable] clinically. ..
  38. SUSCEPTIBILITY GENES IN AUTOIMMUNE THYROID DISEASE
    TERRY FRANCIS DAVIES; Fiscal Year: 2013
    ..genes and epigenetic phenomena including the CTLA-4 and IL-23 receptor genes, the HLA DR-3 haplotypes and X chromosome inactivation (XCI)...
  39. Identify and characterize genes involved in X-chromosome inactivation
    Zhiguo Zhang; Fiscal Year: 2013
    ....
  40. Does Demethylation of the Inactive X Contribute to Lupus in Women?
    Bruce C Richardson; Fiscal Year: 2013
    ..However, how a second X chromosome, which is largely inactivated, contributes to lupus in women is unclear...
  41. A high throughput screen for X-reactivation and reprogramming by small molecules
    Jeannie T Lee; Fiscal Year: 2013
    ..provided by applicant): A high throughput screen for X-reactivation and reprogramming by small molecules X chromosome inactivation (XCI), the process by which female mammals (XX) balance X-linked gene expression compared to males ..
  42. Mechanisms of X Chromosome Silencing and Its Relation to Pluripotency
    Amy Pandya-Jones; Fiscal Year: 2013
    ..XCI is essential for the normal development of placental female organisms. Females carrying only a single X chromosome suffer congenital cardiac and renal abnormalities and are generally infertile (Bondy 2009), while female ..
  43. DOSAGE COMPENSATION IN DROSOPHILA
    James A Birchler; Fiscal Year: 2012
    ..histone acetylase to the X via the action of the male specific lethal (MSL) complex, which is localized to the X chromosome in males...
  44. Initiation of Epigenetic Transcriptional Regulation
    Sundeep Kalantry; Fiscal Year: 2011
    ..This reversibility makes epigenetic changes, including those we propose to identify, potentially amenable to manipulation and therapeutic intervention. ..
  45. Role of UTX in escape from X inactivation
    JOEL BRADFORD BERLETCH; Fiscal Year: 2010
    ..regulation modifies individual genes but it can also affect a whole chromosome, for example in the case of X chromosome inactivation...
  46. The dynamics of DNA methylation in normal and cancer cells
    GREGORY ADAM HORWITZ; Fiscal Year: 2011
    ..functions and pathologies, including tissue-specific gene expression, cell differentiation, genomic imprinting, X chromosome inactivation, regulation of chromatin structure, aging, and carcinogenesis...
  47. Magnetomotive optical coherence tomography for molecular imaging of the eye
    Jianhua Wang; Fiscal Year: 2010
    ..Proteins such as cochlin and exon-trapped X chromosome clone 1 (ETX1) have been confirmed to be elevated in glaucomatous DBA/2J mouse model by immunohistochemistry...
  48. Molecular genetics of Pelizaeus-Merzbacher disease
    Grace M Hobson; Fiscal Year: 2013
    ..abstract_text> ..
  49. Genome-scale anaylsis of DNA methylation in CpG Islands with bisulfite sequencing
    Kun Zhang; Fiscal Year: 2011
    ..DNA methylation is the most stable form of epigenetic modification that leads to transcriptional silencing, X chromosome inactivation and imprinting...
  50. Sex Differences in Early Brain Development;Brain Development in Turner Syndrome
    REBECCA KNICKMEYER SANTELLI; Fiscal Year: 2012
    ..In addition, this study will provide new information on when brain abnormalities arise in Turner Syndrome and help clarify the potential role of hormone therapies in creating and/or ameliorating abnormal brain development. ..
  51. Aging and the Developmental Regulation of X Chromosome Inactivation
    ALISSA F MINKOVSKY; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): X chromosome inactivation (XCI) is a developmental program of sex chromosome dosage compensation achieved by transcriptional inactivation of one of the two X chromosomes during female mammalian ..
  52. Allelic Choice in Rett Syndrome
    Mary E Donohoe; Fiscal Year: 2013
    ..RTT falls under the umbrella of ASD. Mutations in the X-linked MeCP2 protein situated on the X chromosome are the cause of this genetic disorder...
  53. Genetics of DNA methylation patterning of arabidopsis.
    Steven E Jacobsen; Fiscal Year: 2013
    ..Thus a further understanding of the DNA methylation may someday lead to methods for correcting DNA methylation patterning defects. ..
  54. Development of an Oral Therapeutic Drug for Spinal and Bulbar Muscular Atrophy
    Charles C Y Shih; Fiscal Year: 2013
    ..abstract_text> ..
  55. Regulation of Spermatogenesis by X-linked miRNAs
    Wei Yan; Fiscal Year: 2013
    ..Data from the present study will contribute insight into the function of X-linked miRNAs in the control of sperm production and male fertility. ..
  56. HISTONE H3 METHYLATION AND EPIGENOMICS IN ACUTE LEUKEMIA
    Lukas D Wartman; Fiscal Year: 2013
    ..KDM6A encodes a H3K27 histone demethylase on the X chromosome that is mutated in a wide range of human cancers, including acute myeloid leukemia...
  57. Functions of TEX11 and its associated proteins in mice and humans
    Peijing Jeremy Wang; Fiscal Year: 2013
    ..The current application is to investigate the role of TEX11, an X chromosome-encoded factor, in regulating fertility in both mice and humans...
  58. Regulatory Mechanisms and Biological Functions of non-coding RNA
    ERIC ALCID; Fiscal Year: 2013
    ..Ultimately, we would like the work outlined in this proposal to shed light on how ncRNAs are capable of promoting distinct gene expression patterns, which can reveal the molecular basis underlying human disease states. ..
  59. Condensin and Chromosome Segregation in C. elegans
    Kirsten A Hagstrom; Fiscal Year: 2010
    ..the existence of two condensin complexes with overlapping components but distinct functions in mitosis and X chromosome gene regulation...
  60. PATTERN FORMATION IN THE DROSOPHILA EYE DISC
    Jessica E Treisman; Fiscal Year: 2013
    ..The third aim will seek to clone and characterize two novel genes found in a screen of the X chromosome that are likely to affect signaling through the EGFR pathway...
  61. Mapping and rescuing EMS-induced lethal mutations on the Drosophila X Chromosome
    Hugo J Bellen; Fiscal Year: 2010
    ..a collection of well defined chemically induced mutations in essential genes on the Drosophila melanogaster X chromosome for distribution by the Bloomington Drosophila Stock Center (BDSC) to the fly community...
  62. Dosage compensation of a novel X chromosome
    JOSEPHINE ANNA REINHARDT; Fiscal Year: 2013
    ..shift," in which the ancestral X is now an autosome, and one of the autosomes (2L in Drosophila) is now the X chromosome. This shift will have radically altered the dosage (copy number) of each X-linked and formerly X- linked gene ..
  63. Meiotic sex chromosome inactivation and the developmental basis of hybrid male st
    JEFFREY GOOD; Fiscal Year: 2013
    ..use additional genetic experiments to directly test if candidate incompatibilities do indeed interact with the X chromosome to cause sterility...
  64. DOSAGE COMPENSATION IN DROSOPHILA
    Bruce Baker; Fiscal Year: 1999
    ..elegans, and man. Drosophila dosage compensates by hyperactivation of the single male X chromosome, C...
  65. X-LINKED OCULAR ALBINISM & RETINITIS PIGMENTOSA
    Anand Swaroop; Fiscal Year: 1993
    ..The characterization of other X-linked eye and retina-specific clones, isolated during the project, will form the basis for future studies...
  66. Investigation of the Molecular Determinants of DAX-1 Mediated X-Linked Adrenal Hy
    Christina Tzagarakis Foster; Fiscal Year: 2009
    ..The AHC locus was originally mapped to the Xp21 region of the X chromosome. This region was later identified to contain the DAX-1 gene (Dosage sensitive sex-reversal, adrenal hypoplasia ..
  67. MOLECULAR GENETIC ANALYSIS OF XQ28
    Stephen Warren; Fiscal Year: 1992
    The terminal band of the human X chromosome long arm, Xq28, is estimated to be <10,000 kb...
  68. Analyses of a Non tumorigenic Teratocarcinoma Cell Line
    Paulette McCormick; Fiscal Year: 2005
    ..that there is only a single retroviral insertion site which we have mapped to the proximal portion of the mouse X chromosome. A mouse mammary gland expressed sequence taq (EST) has greater than 97 percent homology to a region within the ..
  69. DOSAGE COMPENSATION OF THE ACTIVE X CHROMOSOME IN MAMMALS
    Christine M Disteche; Fiscal Year: 2010
    ..of another form of dosage compensation, which doubles the global transcriptional output from the active X chromosome in males and females to achieve a similar expression level to that of autosomes...
  70. ANDROGEN EFFECTS ON COGNITION IN TURNER SYNDROME
    Judith Ross; Fiscal Year: 2007
    ..Girls with Turner syndrome (TS) are missing all or part of the second X chromosome, are born with dysgenetic ovaries, and therefore lack ovarian estrogen and androgen before, during, and after ..
  71. X-LINKED CHARCOT-MARIE TOOTH DISEASE
    Thaddeus Kelly; Fiscal Year: 1990
    ..Based on recent advances in mapping of the human X chromosome, we propose to reverse this process...
  72. PUSHMI-PULLYU HYBRID MAPPING OF THE HUMAN X CHROMOSOME
    HUNTINGTON WILLARD; Fiscal Year: 1992
    ..investigators propose to use this scheme to generate a high-resolution, one megabase physical map of the human X chromosome, using as selectable markers the HPRT gene located in Xq26 and the A1S9T temperature-sensitivity complementing ..
  73. PHYSICAL MAP OF RP2 AND RP3 LOCI ON HUMAN X-CHROMOSOME
    BRATIN SAHA; Fiscal Year: 1990
    ..These physical mapping data will then be utilized to construct new probes for the diagnosis and eventual cloning of the XLRP gene(s)...
  74. MOLECULAR GENETICS OF GENE DOSAGE COMPENSATION AND SEX
    Alan Christensen; Fiscal Year: 1991
    ..Cells with one X chromosome and two sets of automsomes are males and cells with 2 X chromosomes and two sets of autosomes are females...
  75. OGT Overexpression in Women with Lupus
    Bruce Richardson; Fiscal Year: 2009
    ..DNA methylation also silences one X chromosome in women...