Literature DB >> 1303241

Light is a dominant mouse mutation resulting in premature cell death.

R Johnson1, I J Jackson.   

Abstract

Light is a dominant mutant allele of the mouse brown locus which results in hairs pigmented only at their tips. The phenotype is due to premature melanocyte death. We have sequenced the tyrosinase-related protein-1 cDNA encoded at this locus from Light mice and found that it contains a single base alteration from wild-type, causing an Arg to Cys change in the protein. To further elucidate the mutant phenotype, we studied the expression of melanocyte specific genes in the skin of Light mice. We have demonstrated premature melanocyte death, but only in pigmented mice, indicating that the cell death is mediated through the inherent cytotoxicity of pigment production.

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Year:  1992        PMID: 1303241     DOI: 10.1038/ng0692-226

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


  16 in total

Review 1.  Aging, graying and loss of melanocyte stem cells.

Authors:  Kavita Y Sarin; Steven E Artandi
Journal:  Stem Cell Rev       Date:  2007       Impact factor: 5.739

Review 2.  Regulation of melanocyte stem cells in the pigmentation of skin and its appendages: Biological patterning and therapeutic potentials.

Authors:  Weiming Qiu; Cheng-Ming Chuong; Mingxing Lei
Journal:  Exp Dermatol       Date:  2019-01-15       Impact factor: 3.960

3.  Epistatic and combinatorial effects of pigmentary gene mutations in the domestic pigeon.

Authors:  Eric T Domyan; Michael W Guernsey; Zev Kronenberg; Shreyas Krishnan; Raymond E Boissy; Anna I Vickrey; Clifford Rodgers; Pamela Cassidy; Sancy A Leachman; John W Fondon; Mark Yandell; Michael D Shapiro
Journal:  Curr Biol       Date:  2014-02-06       Impact factor: 10.834

4.  Unraveling the melanocyte.

Authors:  V J Hearing
Journal:  Am J Hum Genet       Date:  1993-01       Impact factor: 11.025

Review 5.  The molecular basis of genetic dominance.

Authors:  A O Wilkie
Journal:  J Med Genet       Date:  1994-02       Impact factor: 6.318

6.  Selective down-regulation of tyrosinase family gene TYRP1 by inhibition of the activity of melanocyte transcription factor, MITF.

Authors:  Dong Fang; Yoshiaki Tsuji; Vijayasaradhi Setaluri
Journal:  Nucleic Acids Res       Date:  2002-07-15       Impact factor: 16.971

7.  Regional localization of the rat genes encoding the cAMP-specific phosphodiesterases 3 (Pde4d) and 4 (Pde4b) and the tyrosinase-related protein 1 (Tyrp1).

Authors:  F Tissir; B Champagne; K Klinga-Levan; G Levan; J Szpirer; C Szpirer
Journal:  Mamm Genome       Date:  1996-03       Impact factor: 2.957

8.  Melanesian blond hair is caused by an amino acid change in TYRP1.

Authors:  Eimear E Kenny; Nicholas J Timpson; Martin Sikora; Muh-Ching Yee; Andrés Moreno-Estrada; Celeste Eng; Scott Huntsman; Esteban González Burchard; Mark Stoneking; Carlos D Bustamante; Sean Myles
Journal:  Science       Date:  2012-05-04       Impact factor: 47.728

Review 9.  Melanosome Biogenesis in the Pigmentation of Mammalian Skin.

Authors:  Linh Le; Julia Sirés-Campos; Graça Raposo; Cédric Delevoye; Michael S Marks
Journal:  Integr Comp Biol       Date:  2021-10-14       Impact factor: 3.326

10.  Iris phenotypes and pigment dispersion caused by genes influencing pigmentation.

Authors:  Michael G Anderson; Norman L Hawes; Colleen M Trantow; Bo Chang; Simon W M John
Journal:  Pigment Cell Melanoma Res       Date:  2007-06-28       Impact factor: 4.693

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