Genomes and Genes
Gene Symbol: Tyr
Alias: Oca1, albino, skc35, tyrosinase, albino locus protein, monophenol monooxygenase
Publications129 found, 100 shown here
- Genetic and physical mapping of the fitness 1 (fit1) locus within the Fes-Hbb region of mouse chromosome 7M D Potter
University of Tennessee Oak Ridge Graduate School of Biomedical Sciences 37831 8077, USA
Mamm Genome 6:70-5. 1995..We report mapping of the fit1 locus, by trans-complementation crosses to mice carrying deletions of the albino (c) locus in Chromosome (Chr) 7, to a subregion of the c-deletion complex within the Mod2-sh1 interval...
- trkC, a receptor for neurotrophin-3, is widely expressed in the developing nervous system and in non-neuronal tissuesL Tessarollo
Molecular Embryology Section, ABL Basic Research Program, NCI Frederick Cancer Research and Development Center, Maryland 21702 1201
Development 118:463-75. 1993..Alignment with available chromosomal maps identify possible linkage between the Trk genes and known neurological mutations...
- Functions of adaptor protein (AP)-3 and AP-1 in tyrosinase sorting from endosomes to melanosomesAlexander C Theos
Cambridge Institute for Medical Research, University of Cambridge, Wellcome Trust, Cambridge CB2 2XY, United Kingdom
Mol Biol Cell 16:5356-72. 2005..Here, we show that AP-3 and AP-1 function independently in sorting of the melanocyte-specific protein tyrosinase from endosomes to the melanosome, a specialized lysosome-related organelle distinguishable from lysosomes...
- Detection of obesity QTLs on mouse chromosomes 1 and 7 by selective DNA poolingB A Taylor
The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine, 04609 1500, USA
Genomics 34:389-98. 1996..The possible relationships between these QTLs and previously described obesity QTLs, major obesity mutations, and candidate genes are discussed...
- Glioma pathogenesis-related protein 1 exerts tumor suppressor activities through proapoptotic reactive oxygen species-c-Jun-NH2 kinase signalingLikun Li
Scott Department of Urology, Baylor College of Medicine, Houston, Texas, USA
Cancer Res 68:434-43. 2008..Thus, our results identify GLIPR1 as a proapoptotic tumor suppressor acting through the ROS-JNK pathway and support the therapeutic potential for this protein...
- Genetic mapping in human and mouse of the locus encoding TRBP, a protein that binds the TAR region of the human immunodeficiency virus (HIV-1)C A Kozak
Laboratory of Molecular Microbiology, National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
Genomics 25:66-72. 1995..Western blotting indicates that despite high sequence conservation in human and mouse, the TARBP2 protein differs in apparent size in primate and rodent cells...
- Expression of the mouse tyrosinase gene during embryonic development: recapitulation of the temporal regulation in transgenic miceF Beermann
Institute of Cell and Tumor Biology, German Cancer Research Center, Heidelberg
Proc Natl Acad Sci U S A 89:2809-13. 1992..b>Tyrosinase (monophenol, L-dopa:oxygen oxidoreductase, EC 1.14.18...
- A point mutation in the tyrosinase gene of BALB/c albino mouse causing the cysteine----serine substitution at position 85S Shibahara
Department of Applied Physiology, Tohoku University School of Medicine, Sendai, Japan
Eur J Biochem 189:455-61. 1990..In order to study the molecular basis of albinism, we have cloned and characterized the tyrosinase gene of BALB/c mice (c/c)...
- Rescue of the albino phenotype by introduction of a functional tyrosinase gene into miceF Beermann
Institute of Cell and Tumor Biology, German Cancer Research Center, Heidelberg
EMBO J 9:2819-26. 1990The c-locus of the mouse is thought to encode tyrosinase, the key enzyme for melanin synthesis in melanocytes of the skin and the eye...
- Identification of the albino mutation of mouse tyrosinase by analysis of an in vitro revertantI J Jackson
Medical Research Council Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom
Proc Natl Acad Sci U S A 87:7010-4. 1990..We sequenced a part of the tyrosinase gene, encompassing a candidate mutation, from wild-type, albino, and revertant cell DNAs...
- Conserved cysteine to serine mutation in tyrosinase is responsible for the classical albino mutation in laboratory miceT Yokoyama
Howard Hughes Medical Institute, Department of Cell Biology, Baylor College of Medicine, Houston, TX 77030
Nucleic Acids Res 18:7293-8. 1990Albinism, due to a lack of melanin pigment, is one of the oldest known mutations in mice. Tyrosinase (monophenol oxygenase, EC 1.14.18...
- Isolation, chromosomal mapping, and expression of the mouse tyrosinase geneB S Kwon
Department of Microbiology and Immunology, Indiana University School of Medicine, Indianapolis 46202 5120
J Invest Dermatol 93:589-94. 1989Using a human tyrosinase cDNA probe, we have isolated mouse tyrosinase genomic clones and used them to map the mouse tyrosinase locus and to analyze the promoter sequence of the tyrosinase gene...
- A cell-specific enhancer far upstream of the mouse tyrosinase gene confers high level and copy number-related expression in transgenic miceR Ganss
Division of Molecular Biology of the Cell I, German Cancer Research Center, Heidelberg
EMBO J 13:3083-93. 1994The tyrosinase gene encodes the key enzyme of melanin production and is tightly regulated during development...
- A yeast artificial chromosome covering the tyrosinase gene confers copy number-dependent expression in transgenic miceA Schedl
Division Molecular Biology of the Cell I, German Cancer Research Center, Heidelberg
Nature 362:258-61. 1993..Here we report the transfer of a 250 kilobase YAC covering the mouse tyrosinase gene into mice by pronuclear injection of gel-purified YAC DNA...
- Tyrosinase and related proteins in mammalian pigmentationV del Marmol
LOCE, Institut J Bordet, Universite Libre de Bruxelles, Belgium
FEBS Lett 381:165-8. 1996b>Tyrosinase is the key enzyme in pigment synthesis, initiating a cascade of reactions which convert the amino acid tyrosine to the melanin biopolymer...
- Tyrosinase, the key enzyme in melanin synthesis, is expressed in murine brainK Tief
Swiss Institute for Experimental Cancer Research, Epalinges, Switzerland
Eur J Biochem 241:12-6. 1996b>Tyrosinase is one of the key enzymes in mammalian melanin synthesis. The pigment is produced in two different cell types: the pigmented epithelial cell of the retina, and the melanocyte, a cell of neural-crest origin...
- Tyrosinase is a new marker for cell populations in the mouse neural tubeK Tief
Swiss Institute for Experimental Cancer Research ISREC, Epalinges, Switzerland
Dev Dyn 205:445-56. 1996b>Tyrosinase, the key enzyme in melanin synthesis, is expressed in pigment cells derived from both neural crest and neuroectoderm...
- Base substitution at different alternative splice donor sites of the tyrosinase gene in murine albinismN Le Fur
Institute for Cancer Research, Fox Chase Cancer Center, Philadelphia, Pennsylvania 19111, USA
Genomics 37:245-8. 1996The c2j albino mutation at the mouse tyrosinase locus arose spontaneously in the C57BL/6 inbred strain and causes complete absence of melanin synthesis, as does the "classical" c mutation of long-established albino inbred strains...
- A locus control region at -12 kb of the tyrosinase geneL Montoliu
Division of Molecular Biology of the Cell I, German Cancer Research Center, Heidelberg, Germany
EMBO J 15:6026-34. 1996We have shown previously that the tyrosinase gene encompassed in a 250 kb yeast artificial chromosome (YAC) is expressed faithfully in transgenic mice...
- Correction of retinal abnormalities found in albinism by introduction of a functional tyrosinase gene in transgenic mice and rabbitsG Jeffery
Institute of Ophthalmology, University College London, UK
Brain Res Dev Brain Res 99:95-102. 1997..It has been demonstrated using transgenic mice that the chiasmatic abnormality is controlled by the tyrosinase gene, which is the key enzyme in melanin synthesis...
- Embryonic lethality and tumorigenesis caused by segmental aneuploidy on mouse chromosome 11P Liu
Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Genetics 150:1155-68. 1998..A duplication corresponding to one of these two deficiencies was able to rescue its haplolethality...
- Tyrosinase stabilization by Tyrp1 (the brown locus protein)T Kobayashi
Laboratory of Cell Biology, NCI, National Institutes of Health, Bethesda Maryland 20892, USA
J Biol Chem 273:31801-5. 1998..The Tyr/albino locus, in which mutations cause a lack of pigmentation, encodes tyrosinase (Tyr), the critical and rate-limiting melanogenic enzyme...
- Catecholamine synthesis is mediated by tyrosinase in the absence of tyrosine hydroxylaseM Rios
Departments of Neuroscience and Anatomy and Cell Biology, Tufts University Medical School, Boston, Massachusetts 02111, USA
J Neurosci 19:3519-26. 1999..To ascertain the source of the catecholamine, we examined postnatal TH-null albino mice that lack tyrosinase, another enzyme that converts tyrosine to L-Dopa but does so during melanin synthesis...
- Self-tolerance to the murine homologue of a tyrosinase-derived melanoma antigen: implications for tumor immunotherapyT A Colella
Department of Microbiology and the Beirne Carter Center for Immunology Research, University of Virginia, Charlottesville, Virginia 22908, USA
J Exp Med 191:1221-32. 2000The human tyrosinase-derived peptide YMDGTMSQV is presented on the surface of human histocompatibility leukocyte antigen (HLA)-A*0201(+) melanomas and has been suggested to be a tumor antigen despite the fact that tyrosinase is also ..
- Fmr1 knockout mouse has a distinctive strain-specific learning impairmentC Dobkin
Department of Genetics, NYS Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, NY 10314, Staten Island, USA
Neuroscience 100:423-9. 2000..The strain dependence may model the influence of genetic background in the human Fragile X syndrome...
- Otx genes are required for tissue specification in the developing eyeJ R Martinez-Morales
Instituto Cajal, CSIC, Dr Arce 37, Madrid 28002, Spain
Development 128:2019-30. 2001..vesicle infolding was severely altered and the expression of pigment epithelium-specific genes, such as Mitf or tyrosinase, was lost...
- Use of coisogenic host blastocysts for efficient establishment of germline chimeras with C57BL/6J ES cell linesK Schuster-Gossler
Medizinische Hochschule Hannover, Germany
Biotechniques 31:1022-4, 1026. 2001..Our data support the use of the coisogenic albino host strain, c2J, for the generation of germline-competent chimeric mice when using B6 ES cells.
- Spatiotemporal features of early neuronogenesis differ in wild-type and albino mouse retinaRivka A Rachel
Center for Neurobiology and Behavior, Department of Pathology, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA
J Neurosci 22:4249-63. 2002In albino mammals, lack of pigment in the retinal pigment epithelium is associated with retinal defects, including poor visual acuity from a photoreceptor deficit in the central retina and poor depth perception from a decrease in ..
- Modification of ocular defects in mouse developmental glaucoma models by tyrosinaseRichard T Libby
Jackson Laboratory, Bar Harbor, ME 04609, USA
Science 299:1578-81. 2003..Using Cyp1b1-/- mice, we identified the tyrosinase gene (Tyr) as a modifier of the drainage structure phenotype, with Tyr deficiency increasing the magnitude of ..
- Tyrosinase processing and intracellular trafficking is disrupted in mouse primary melanocytes carrying the underwhite (uw) mutation. A model for oculocutaneous albinism (OCA) type 4Gertrude E Costin
Pigment Cell Biology Section, Laboratory of Cell Biology, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA
J Cell Sci 116:3203-12. 2003..forms of OCA have been previously characterized, each resulting from the aberrant processing and/or sorting of tyrosinase, the enzyme critical to pigment production in mammals...
- Tyrosinase: a developmentally specific major determinant of peripheral dopamineGraeme Eisenhofer
Section on Clinical Neurocardiology, National Institute of Neurological Disorders and Stroke, National Institutes of Health, 10 Center Dr MSC 1620, Bethesda, MD 20892 1620, USA
FASEB J 17:1248-55. 2003..be formed by two enzymes: tyrosine hydroxylase (TH) in catecholamine-producing neurons and chromaffin cells and tyrosinase in melanocytes. In this study we examined whether tyrosinase contributes to production of dopamine...
- Functional dissection of the mouse tyrosinase locus control region identifies a new putative boundary activityPatricia Giraldo
Department of Molecular and Cellular Biology, Centro Nacional de Biotecnologia CNB CSIC, Campus de Cantoblanco, 28049 Madrid, Spain
Nucleic Acids Res 31:6290-305. 2003..We have analysed the mouse tyrosinase LCR functions, in vitro, in cell lines and, in vivo, in transgenic mice and flies. The LCR-core (2...
- Chx10 repression of Mitf is required for the maintenance of mammalian neuroretinal identityD Jonathan Horsford
Program in Developmental Biology, The Research Institute, Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada
Development 132:177-87. 2005..We demonstrate that the repression of Mitf by FGF is Chx10 dependent, indicating that FGF, Chx10 and Mitf are components of a pathway that determines and maintains the identity of the NR...
- Topical drug rescue strategy and skin protection based on the role of Mc1r in UV-induced tanningJohn A D'Orazio
Melanoma Program, Dana Farber Cancer Institute and Children s Hospital, 44 Binney Street, Boston, Massachusetts 02115, USA
Nature 443:340-4. 2006..These data emphasize the essential role of intercellular MSH signalling in the tanning response, and suggest a clinical strategy for topical small-molecule manipulation of pigmentation...
- Distinct distal regulatory elements control tyrosinase expression in melanocytes and the retinal pigment epitheliumFabien Murisier
Swiss Institute for Experimental Cancer Research, National Center of Competence in Research, Molecular Oncology, Chemin des Boveresses 155, 1066 Epalinges, Switzerland
Dev Biol 303:838-47. 2007..The pigmentation gene tyrosinase is expressed in all pigment cells but differentially regulated in melanocytes and RPE...
- Deletional self-tolerance to a melanocyte/melanoma antigen derived from tyrosinase is mediated by a radio-resistant cell in peripheral and mesenteric lymph nodesLisa A Nichols
Department of Microbiology and Carter Immunology Center, University of Virginia Health System, Charlottesville, VA 22908, USA
J Immunol 179:993-1003. 2007..We have used a newly generated TCR-transgenic mouse to establish the basis of tolerance to one such Ag from tyrosinase. Despite expression of tyrosinase transcripts in the thymus, central deletion does not shape the tyrosinase-..
- Alternative promoter use in eye development: the complex role and regulation of the transcription factor MITFKapil Bharti
Mammalian Development Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
Development 135:1169-78. 2008....
- Eye-specific projections of retinogeniculate axons are altered in albino miceAlexandra Rebsam
Department of Pathology and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA
J Neurosci 32:4821-6. 2012..affects eye-specific retinogeniculate targeting in albino mice using the C57BL/6 Tyr(c-2J/c-2J) strain, in which tyrosinase, necessary for melanogenesis, is mutated...
- A regulatory loop involving PAX6, MITF, and WNT signaling controls retinal pigment epithelium developmentKapil Bharti
Mammalian Development Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, United States of America
PLoS Genet 8:e1002757. 2012..The results suggest that careful manipulation of the Pax6 regulatory circuit may facilitate the generation of retinal and pigment epithelium cells from embryonic or induced pluripotent stem cells...
- Lymphatic endothelial cells induce tolerance via PD-L1 and lack of costimulation leading to high-level PD-1 expression on CD8 T cellsEric F Tewalt
Department of Microbiology, Immunology, and Cancer Biology, University of Virginia School of Medicine, Charlottesville, VA 22908, USA
Blood 120:4772-82. 2012..Rescue of tyrosinase-specific T(CD8) by interference with PD-1 or provision of costimulation results in autoimmune vitiligo, ..
- Genomic analysis of a novel spontaneous albino C57BL/6N mouse strainEdward Ryder
The Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, United Kingdom
Genesis 51:523-8. 2013We report an albino C57BL/6N mouse strain carrying a spontaneous mutation in the tyrosinase gene (C57BL/6N-Tyr(cWTSI)). Deep whole genome sequencing of founder mice revealed very little divergence from C57BL/6NJ and C57BL/6N (Taconic)...
- The interleukin-4 receptor gene (IL4R) maps to 16p11.2-16p12.1 in human and to the distal region of mouse chromosome 7M A Pritchard
Department of Cytogenetics and Molecular Genetics, Adelaide Children s Hospital, Australia
Genomics 10:801-6. 1991..Interestingly, the position on human chromosome 16 suggests that the IL4R may be a candidate for rearrangements, as 12;16 translocations are often associated with myxoid liposarcomas...
- Mosaicism of tyrosinase-locus transcription and chromatin structure in dark vs. light melanocyte clones of homozygous chinchilla-mottled miceS Porter
Institute for Cancer Research, Fox Chase Cancer Center, Philadelphia, PA 19111
Dev Genet 12:393-402. 1991The chinchilla-mottled (cm) mutation at the mouse tyrosinase-encoding locus leads to a transversely striped pattern of dark- and light-grey coat colors in homozygotes...
- Intraocular pressure in genetically distinct mice: an update and strain surveyO V Savinova
The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA
BMC Genet 2:12. 2001....
- The ocular albinism type 1 (OA1) gene controls melanosome maturation and sizeKatia Cortese
Telethon Institute of Genetics and Medicine TIGEM, Naples, Italy
Invest Ophthalmol Vis Sci 46:4358-64. 2005The authors took advantage of the Oa1 mutant mouse in combination with other albinism mouse models (i.e., Tyrosinase and membrane-associated transporter protein [Matp]) to study the function of Oa1, the gene mutated in ocular albinism ..
- Molecular analysis of viable spontaneous and radiation-induced albino (c)-locus mutations in the mouseE M Rinchik
Biology Division, Oak Ridge National Laboratory, TN 37831 8077
Mutat Res 286:199-207. 1993..and with probes derived from the closely linked proviral integration sites Pmv-31 and Emv-23, which flank the tyrosinase gene on the proximal and distal sides, respectively...
- Murine albino-deletion complex: high-resolution microsatellite map and genetically anchored YAC framework mapB A Rikke
Institute for Behavioral Genetics, University of Colorado, Boulder 80309 0447, USA
Genetics 147:787-99. 1997The murine albino-deletion complex developed as part of the Oak Ridge specific-locus test covers 6-11 cM of chromosome 7...
- Cloning of mouse uncoupling protein 3 cDNA and 5'-flanking region, and its genetic mapH Yoshitomi
Tsukuba Research Laboratories, Eisai Co, Ltd, 5 1 3, Tokodai, Tsukuba, Ibaraki 300 2635, Japan
Gene 215:77-84. 1998..As Solanes et al. reported that both human UCP2 and UCP3 genes are assigned to chromosome 11q13, the region where the mouse Ucp2 and Ucp3 are localized is syntenic to human chromosome 11q13...
- Regional localization of three convertases, PC1 (Nec-1), PC2 (Nec-2), and furin (Fur), on mouse chromosomesN G Copeland
Mammalian Genetics Laboratory, ABL Basic Research Program, NCI Frederick Cancer Research and Development Center, Maryland 21702
Genomics 13:1356-8. 1992..These results refine previous localizations by in situ hybridization as well as confirm and extend known regions of homology between mouse and human chromosomes...
- Molecular bases of tyrosinase-negative oculocutaneous albinism: a single base insertion or a missense point mutation in the tyrosinase geneY Tomita
Department of Dermatology, Thoku University School of Medicine, Sendai, Japan
Pigment Cell Res . 1992We have identified two different mutations in the tyrosinase genes of Japanese patients with tyrosinase-negative oculocutaneous albinism (OCA)...
- Genomic mapping within the albino-deletion complex using individual early postimplantation mouse embryosS K Sharan
Department of Genetics, Case Western Reserve University, Cleveland, Ohio 44106
Mamm Genome 3:79-83. 1992..Using this procedure, we have been able to redefine the distal limits of the region of Chromosome (Chr) 7 containing a gene (eed) needed for development of the embryonic ectoderm...
- Genetic linkage analysis and homology relationships of genes located on human chromosome 11qP Charmley
Department of Microbiology and Immunology, University of California, Los Angeles 90024
Genomics 10:608-17. 1991..Our map includes the genes for CD20, tyrosinase, progesterone receptor, stromelysin, collagenase, N-CAM, dopamine-D2 receptor, apolipoproteins AI-CIII-AIV, CD3-..
- Microclones derived from the mouse chromosome 7 D-E bands map within the proximal region of the c14CoS deletion in albino mutant miceR R Tönjes
Department of Cell Biology, Fraunhofer Institute of Toxicology and Aerosol Research, Hannover, Federal Republic of Germany
Genomics 10:686-91. 1991A group of radiation-induced perinatal-lethal deletions that include the albino (c) locus on mouse chromosome 7 causes failure of expression of various hepatocyte-specific genes when homozygous (S...
- Multiple alternatively spliced transcripts of the mouse tyrosinase-encoding geneS Porter
Institute for Cancer Research, Fox Chase Cancer Center, Philadelphia, PA 19111
Gene 97:277-82. 1991We have isolated and characterized tyrosinase-specific cDNAs from wild-type mouse skin, to provide a basis for the structural and functional analysis of mutations at the mouse tyrosinase-encoding (Tyr) locus...
- Axonal abnormalities in cerebellar Purkinje cells of the 'hyperspiny Purkinje cell' mutant mouseC Sotelo
Laboratoire de Neuromorphologie, INSERM U 106, Hopital de la Salpetriere, Paris, France
J Neurocytol 19:737-55. 1990..Therefore, the hpc mutation offers a valuable tool to analyse some of the genetic factors involved in the differentiation and maintenance of cerebellar Purkinje cells...
- Sequence analysis of mouse tyrosinase cDNA and the effect of melanotropin on its gene expressionB S Kwon
Molecular Genetics, Guthrie Research Institute, Sayre, PA 18840 1692
Biochem Biophys Res Commun 153:1301-9. 1988Using human tyrosinase cDNA as a probe, a mouse tyrosinase cDNA clone representing approximately 75% of the tyrosinase coding region and a mouse genomic clone which includes the tyrosinase 5' coding sequences were isolated: nucleotide and ..
- Two new cataract loci, Ccw and To3, and further mapping of the Npp and Opj cataracts in the mouseS Kerscher
MRC Mammalian Genetics Unit, Harwell, Oxfordshire, OX11 ORD, United Kingdom
Genomics 36:17-21. 1996..While there are no obvious candidate genes in the vicinity of the Ccw, Npp, and Opj mutations, To3 lies remarkably close to the recently mapped Lim2 locus, which encodes lens intrinsic membrane protein 2, also called MP19...
- Sox6 is a candidate gene for p100H myopathy, heart block, and sudden neonatal deathN Hagiwara
Department of Pediatrics, The University of Arizona College of Medicine, Tucson, AZ 85724, USA
Proc Natl Acad Sci U S A 97:4180-5. 2000..The p(100H) mutant is thus a useful animal model in the elucidation of myopathies at the molecular level...
- Expression pattern of the ocular albinism type 1 (Oa1) gene in the murine retinal pigment epitheliumE M Surace
Telethon Institute of Genetics and Medicine and the Universitá Vita e Salute, San Raffaele, Milan, Italy
Invest Ophthalmol Vis Sci 41:4333-7. 2000..The localization of Oa1 mRNA was studied and compared with the expression of other genes involved in melanosomal biogenesis...
- Interaction of major coat color gene functions in mice as studied by chemical analysis of eumelanin and pheomelaninM L Lamoreux
Department of Veterinary Pathobiology, Texas A and M University, College Station, USA
Pigment Cell Res 14:23-31. 2001..e., the albino (C) locus that encodes tyrosinase, the slaty (Slt) locus that encodes tyrosinase-related protein 2 (TRP2 also known as dopachrome tautomerase, DCT)..
- Mutation of melanosome protein RAB38 in chocolate miceStacie K Loftus
Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Proc Natl Acad Sci U S A 99:4471-6. 2002..Rab38(cht)/Rab38(cht) mice exhibit a brown coat similar in color to mice with a mutation in tyrosinase-related protein 1 (Tyrp1), a mouse model for oculocutaneous albinism...
- "Agouti NOD": identification of a CBA-derived Idd locus on Chromosome 7 and its use for chimera production with NOD embryonic stem cellsJing Chen
The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine 04609 1500, USA
Mamm Genome 16:775-83. 2005..agouti stock already containing approximately 50% NOD genome, was used as the donor source of a wild-type CBA tyrosinase allele...
- Gene expression profiles of homogentisate-treated Fah-/- Hpd-/-mice using DNA microarraysYasuhiko Tanaka
Department of Pediatrics, Kumamoto University School of Medicine, Honjo 1 1 1, Kumamoto 860 8556, Japan
Mol Genet Metab 89:203-9. 2006..We found that numerous genes, including amino acid metabolism and apoptosis related genes, were up- or down-regulated at the onset of liver failure. These findings are useful in understanding the pathogenesis of hereditary tyrosinemia...
- Iris phenotypes and pigment dispersion caused by genes influencing pigmentationMichael G Anderson
Department of Molecular Physiology and Biophysics, University of Iowa, Iowa City, IA, USA
Pigment Cell Melanoma Res 21:565-78. 2008..Combined, these findings illustrate the utility of studying iris phenotypes as a means of discovering new pathways, and re-linking old ones, to processes of pigmented cells in health and disease...
- Retinal pigment epithelium defects in humans and mice with mutations in MYO7A: imaging melanosome-specific autofluorescenceDaniel Gibbs
Departments of Pharmacology, UCSD School of Medicine, La Jolla, California, USA
Invest Ophthalmol Vis Sci 50:4386-93. 2009..This study was undertaken to identify an imaging method for noninvasively monitoring the RPE component of the USH1B disease...
- An ultraviolet-radiation-independent pathway to melanoma carcinogenesis in the red hair/fair skin backgroundDevarati Mitra
Cutaneous Biology Research Center, Massachusetts General Hospital, Charlestown, Massachusetts 02129, USA
Nature 491:449-53. 2012..To investigate the mechanism of ultraviolet-radiation-independent carcinogenesis, we introduced an albino allele, which ablates all pigment production on the Mc1r(e/e) background...
- All-trans retinoic acid and rapamycin synergize with transforming growth factor-β1 to induce regulatory T cells but confer different migratory capacitiesSiddharth Jhunjhunwala
3 720 Rutland Ave, Room 755A, Baltimore, MD 21205, USA or University of Pittsburgh, 3700 O Hara St, 440 Benedum Hall, Pittsburgh, PA 15261, USA E mail Twitter
J Leukoc Biol 94:981-9. 2013..This difference in migratory activity significantly affects the therapeutic capacity of each subset in a mouse model of colitis. We also describe the characteristics of iTreg generated in the presence of TGF-β, RA, and rapa. ..
- Analogs of 5-(substituted benzylidene)hydantoin as inhibitors of tyrosinase and melanin formationYoung Mi Ha
College of Pharmacy, Pusan National University, Kumjeong gu, Busan 609 735, Republic of Korea
Biochim Biophys Acta 1810:612-9. 2011Many tyrosinase inhibitors find application in cosmetics and pharmaceutical products for the prevention of the overproduction of melanin in the epidermis...
- In vivo imaging of lymphatic vessels in development, wound healing, inflammation, and tumor metastasisInés Martínez-Corral
Biotechnology Programme, Spanish National Cancer Research Centre, CNIO, 28029 Madrid, Spain
Proc Natl Acad Sci U S A 109:6223-8. 2012..This is the first reporter mouse model for luminescence imaging of lymphangiogenesis. It should provide an important tool for studying the involvement of lymphangiogenesis in pathological processes...
- NFIB is a governor of epithelial-melanocyte stem cell behaviour in a shared nicheChiung Ying Chang
Howard Hughes Medical Institute, Laboratory of Mammalian Cell Biology and Development, The Rockefeller University, New York, New York 10065, USA
Nature 495:98-102. 2013..Our findings reveal how melanocyte and hair follicle stem cell behaviours maintain reliance upon cooperative factors within the niche, and how this can be uncoupled in injury, stress and disease states...
- [Genetic analysis of interspecific crosses Mus musculus L. x Mus spretus Lataste: linkage of Adh-1 with Amy-1 on chromosome 3 and Es-14 with Mod-1 on chromosome 9]F Bonhomme
C R Seances Acad Sci D 289:545-8. 1979..Linkage of ES-14 with Mod-1 on chromosome 9 and that of Adh-1 with Amy-1 on chromosome 3 are shown. The following order centromere/Car-2/Amy-1 is tentatively proposed for these loci on chromosome 3...
- Assignment of genes to regions of mouse chromosomesE M Eicher
Proc Natl Acad Sci U S A 75:946-50. 1978....
- Mouse albino-deletions: from genetics to genes in developmentB Holdener-Kenny
Department of Genetics, Case Western Reserve University, Cleveland, Ohio 44106 4955
Bioessays 14:831-9. 1992Six essential genes located near the mouse albino locus have been identified as required during specific periods of development...
- Molecular structure of the tyrosinase geneT Takeuchi
Biological Institute, Tohoku University, Sendai, Japan
Pigment Cell Res . 1992
- Localization of 11q13 loci with respect to regional chromosomal breakpointsP Szepetowski
LGMCH, CNRS URA 1462, Nice, France
Genomics 12:738-44. 1992....
- Deficiency of an enzyme of tyrosine metabolism underlies altered gene expression in newborn liver of lethal albino miceS Ruppert
Institute of Cell and Tumor Biology, German Cancer Research Center, Heidelberg
Genes Dev 6:1430-43. 1992Mice homozygous for albino deletions encompassing the locus alf/hsdr-1 die shortly after birth...
- The monoclonal antibodies TMH-1 and TMH-2 specifically bind to a protein encoded at the murine b-locus, not to the authentic tyrosinase encoded at the c-locusY Tomita
Department of Dermatology, Tohoku University School of Medicine, Sendai, Japan
J Invest Dermatol 96:500-4. 1991..and TMH-3, were previously reported by Tomita et al to produce monoclonal antibodies against murine and human T4-tyrosinase localized in melanosome for the formation of melanin pigment...
- Immune responses in newly developed short-lived SAM mice. IV. Chromosomal location of a gene controlling defective helper T-cell activityK Hanada
Department of Senescence Biology, Kyoto University, Japan
Immunology 74:160-4. 1991..These results suggest that one of the genes controlling the hypo-responsiveness of SAM-P/1 mice is linked to both Gpi-1 and c loci and that it locates at a more proximal site on Chr.7...
- Microdissection and microcloning from the proximal region of mouse chromosome 7: isolation of clones genetically linked to the pudgy locusA J Greenfield
Department of Biochemistry, St Mary s Hospital Medical School, University of London, United Kingdom
Genomics 1:153-8. 1987..Several important loci map to this area, including the albino locus (c), pink-eye dilution (p), and the developmental mutant, pudgy (pu)...
- Survey of int region DNA rearrangements in C3H and BALB/cfC3H mouse mammary tumor systemV K Pathak
J Natl Cancer Inst 78:327-31. 1987..However, the int-1 rearrangement maintained in 1 BALB/cfC3H HPO line through 11 transplant generations suggests that the int-1 rearrangement is neither sufficient nor necessary for progression to mouse mammary carcinoma...
- Aldehyde reductase isozymes in the mouse: evidence for two new loci and localization of Ahr-3 on chromosome 7P B Mather
Biochem Genet 23:483-96. 1985..Genet. 20:1067, 1982)], hexonate dehydrogenase (AHR-2), and alcohol dehydrogenase A2 in terms of their differential substrate, coenzyme, and inhibitor specificities...
- A defective ecotropic provirus closely linked to the albino locusJ Silver
J Virol 55:494-6. 1985A congenic mouse strain (NFS.C) carrying the albino region of chromosome 7 from strain C58/Lw on an ecotropic virus-negative NFS background inherited a noninducible but apparently full-size provirus reactive with an ecotropic virus-..
- Genetic mapping of a murine leukemia virus-inducing locus of AKR miceW P Rowe
Science 178:860-2. 1972..This identification of a closely linked gene whose phenotype is independent of virus expression should facilitate analysis of the biologic importance of the Akv-1 locus...
- Nijmegen waltzer--a new neurological mutant in the mouseJ H van Abeelen
Genet Res 10:117-8. 1967
- The effect of temperature on tyrosinase activity in Himalayan mouse skinS H Kidson
J Exp Zool 215:91-7. 1981The tyrosinase activity of Himalayan mouse skin homogenates was measured over a range of temperatures using two sensitive radiometric assay--namely, (1) the measurement of 14C-tyrosine incorporation into melanin, and (2) the measurement ..
- Prt-4 and Prt-5: new constituents of a gene cluster on chromosome 7 coding for esterproteases in the submandibular gland of the house mouse (Mus musculus)J Otto
Biochem Genet 19:431-44. 1981..From a four-point-cross, the gene order Gpi-1-(Tam-1, Prt-4, Prt-5)-c is suggested. Thus a gene cluster was shown to exist on chromosome 7 coding for esterproteases, all of which are controlled by testosterone...
- Changes in expression of putative antigens encoded by pigment genes in mouse melanomas at different stages of malignant progressionS J Orlow
Ronald O Perelman Department of Dermatology, New York University School of Medicine, New York 10016, USA
Proc Natl Acad Sci U S A 92:10152-6. 1995Cutaneous melanomas of Tyr-SV40E transgenic mice (mice whose transgene consists of the tyrosinase promoter fused to the coding regions of simian virus 40 early genes) strikingly resemble human melanomas in their development and ..
- Physical localization of eed: a region of mouse chromosome 7 required for gastrulationB C Holdener
Department of Genetics, Case Western Reserve University, Cleveland, Ohio 44106 4955, USA
Genomics 27:447-56. 1995In the mouse, the embryonic ectoderm development (eed) region is defined by deletions encompassing the albino (c) locus of chromosome 7. The region is located 1-2 cM distal to the c locus and was of undetermined size...
- Localization of a novel chromosome 7 locus that suppresses development of N-Methyl-N-nitrosourea-induced murine thymic lymphomasJ M Angel
University of Texas M D Anderson Cancer Center, Science Park Research Division, Smithville 78957
Mol Carcinog 7:151-6. 1993..a significant linkage between high tumor incidence and homozygous inheritance of AKR alleles at the albino (tyrosinase) and Hbb loci...
- A Mef2 gene that generates a muscle-specific isoform via alternative mRNA splicingJ F Martin
Department of Biochemistry and Molecular Biology, University of Texas M D Anderson Cancer Center, Houston 77030
Mol Cell Biol 14:1647-56. 1994..The complexity of the MEF2 family of regulatory proteins provides the potential for fine-tuning of transcriptional responses as a consequence of combinatorial interactions among multiple MEF2 isoforms encoded by the four Mef2 genes...
- Deletion mapping of the chocolate (cht) locus within the Fes-Hbb region of mouse chromosome 7M D Potter
University of Tennessee, Oak Ridge Graduate School of Biomedical Sciences
Mamm Genome 4:46-8. 1993
- Functional analysis of the tyrosinase gene and brown-locus protein gene promotersS Shibahara
Department of Applied Physiology and Molecular Biology, Tohoku University School of Medicine, Miyagi, Japan
J Invest Dermatol 100:146S-149S. 1993b>Tyrosinase is a rate-limiting enzyme of melanin biosynthesis and the brown (b)-locus protein is responsible for the formation of black melanin rather than brown...
- Retinal axon divergence in the optic chiasm: midline cells are unaffected by the albino mutationR C Marcus
Department of Pathology, Center for Neurobiology and Behavior, College of Physicians and Surgeons, Columbia University, New York 10032, USA
Development 122:859-68. 1996The visual pathway in albino animals is abnormal in that there is a smaller number of ipsilaterally projecting retinal ganglion cells. There are two possible sites of gene action that could result in such a defect...
- Production of POMC, CRH-R1, MC1, and MC2 receptor mRNA and expression of tyrosinase gene in relation to hair cycle and dexamethasone treatment in the C57BL/6 mouse skinG Ermak
Department of Pathology and Laboratory Medicine, Albany Medical College, New York 12208, USA
J Invest Dermatol 108:160-5. 1997..This production was associated with anagen-dependent expression of the tyrosinase gene and enzyme activity. In contrast, the production of 4.5- and 2...
- Spontaneous mutations in SELH/Bc mice due to insertions of early transposons: molecular characterization of null alleles at the nude and albino lociM Hofmann
Department of Developmental Immunology, Max Planck Institute for Immunology, Freiburg, Germany
Genomics 52:107-9. 1998
- Cis-acting regulation of splenic Art2 gene expression in inbred mouse strainsD F Sardinha
Department of Pathology, University of Connecticut Health Center, Department of Pathology MC 3105, 263 Farmington Avenue, Farmington, CT 06030 3105, USA
Immunogenetics 49:700-3. 1999
- Identification and characterization of a melanocyte-specific novel 65-kDa peripheral membrane proteinP Samaraweera
Department of Dermatology, New York University School of Medicine, New York, NY, USA
Eur J Biochem 266:924-34. 1999..The protein was also detected in melanocytes cultured from albino mice, but absent in cultured mouse cell lines not of melanocyte origin...
- Tyrosinase gene expression in zebrafish embryosE Camp
Department of Molecular Biosciences Genetics, University of Adelaide, 5005 Adelaide, Australia
Dev Genes Evol 211:150-3. 2001The enzyme tyrosinase is required for the conversion of tyrosine into the pigment melanin. Thus, tyrosinase gene expression is a useful marker for studying the differentiation of melanin-expressing cells during embryogenesis...
- Localization of a recessive juvenile cataract mutation to proximal chromosome 7 in miceE J Cargill
Department of Animal Science, University of Nebraska, Lincoln, Nebr 68583 0908, USA
Hum Hered 52:77-82. 2001..To localize the chromosomal position of a novel cataract mutation (juvenile recessive cataract; jrc) in mice...
- Mapping quantitative trait loci for circadian behavioral rhythms in SMXA recombinant inbred strainsT Suzuki
Division of Biomodeling, Graduate School of Bioagricultural Sciences, Nagoya University, Japan
Behav Genet 30:447-53. 2000..The provisional QTLs detected in the present study might be useful for understanding the complex mechanism regulating circadian behaviors...
- Investigation of Nod2: Implications for UveitisHolly Rosenzweig; Fiscal Year: 2008..Together, these studies will provide valuable new information on how Nod2 is involved in autoimmunity and the pathogeneis of uveitis. ..
- AXON TARGET INTERACTIONS IN THE DEVELOPING CEREBELLUMCarol Mason; Fiscal Year: 2002....
- CATECHOLAMINES AND DEVELOPMENTSuzanne Roffler Tarlov; Fiscal Year: 2002..and that (2) catecholamines are made in the absence of tyrosine hydroxylase (TH) through the activity of tyrosinase, the enzyme that catalyzes the synthesis of melanin pigments...
- Albinism: Defects in Tyrosinase, Amines, or MelaninSuzanne Roffler Tarlov; Fiscal Year: 2005This proposal requests funding for examination of the hypotheses that (1) tyrosinase activity in the embryonic eye results in the formation of developmental signals, that (2) these signals, perhaps amines, direct the generation of ..
- Mutagenesis of the Mammalian Imprinting Process(es)Eugene Rinchik; Fiscal Year: 2002..abstract_text> ..
- COCHLEAR VULNERABILITY/REACTIVE OXYGEN SPECIESKEVIN OHLEMILLER; Fiscal Year: 2003..Our experiments will establish how well the dynamics of ROS production predict cochlear injury, and whether progressive deafness genes may impair cochlear ROS regulation. ..
- REGULATION OF ENERGY BALANCE BY MELANOCORTIN ANTAGONISTSGregory Barsh; Fiscal Year: 2003..abstract_text> ..
- NEURONAL DEGENERATION HEREDITARY CEROID-LIPOFUSCINOSISMartin Katz; Fiscal Year: 2003....
- TRANSMISSION ELECTRON MICROSCOPEMartin Katz; Fiscal Year: 2006..Broadening the user base will help make the cost per user of maintaining the instrument as low as possible. [unreadable] [unreadable]..
- Genetics of Dark Skin in MiceGregory Barsh; Fiscal Year: 2006..unreadable] [unreadable]..
- Attractin and Mahoganoid in Spongy NeurodegenerationGregory Barsh; Fiscal Year: 2007..Investigating the biochemical, cellular, and genetic relationships between Atrn, Mahoganoid, and PrP is likely to provide general insight into the pathogenesis of spongy degeneration. [unreadable] [unreadable]..
- Genetic Modulation of Noise Injury to the Cochlear Lateral WallKEVIN OHLEMILLER; Fiscal Year: 2007..The gene, and the processes in which it is involved, may affect the long-term stability of cochlear injury, and the accumulation of injury that may be diagnosed as presbycusis. ..
- Gene Modifiers of Retinal DegenerationHENRY DANCIGER; Fiscal Year: 2009..This would make therapeutic approaches simpler. ..
- Genetic Modulation of Noise Injury to the Cochlear Lateral WallKEVIN OHLEMILLER; Fiscal Year: 2009..The gene, and the processes in which it is involved, may affect the long-term stability of cochlear injury, and the accumulation of injury that may be diagnosed as presbycusis. ..