Literature DB >> 8592076

Genomic organization and sequence of D12S53E (Pmel 17), the human homologue of the mouse silver (si) locus.

T Bailin1, S T Lee, R A Spritz.   

Abstract

We have determined the DNA sequence and genomic organization of D12S53E (Pmel 17), the human homologue of the mouse silver (si) locus. D12S53E encodes a melanosomal matrix protein whose expression is closely correlated with cellular melanin content and which is a frequent melanoma tumor antigen recognized by cytotoxic T lymphocytes. D12S53E is a likely candidate gene for some cases of human oculocutaneous albinism not associated with known albinism loci.

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Year:  1996        PMID： 8592076     DOI： 10.1111/1523-1747.ep12326976

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


  6 in total

1.  A novel splice variant of Pmel17 expressed by human melanocytes and melanoma cells lacking some of the internal repeats.

Authors:  Sarah E Nichols; Dawn C Harper; Joanne F Berson; Michael S Marks
Journal:  J Invest Dermatol       Date:  2003-10       Impact factor: 8.551

2.  Premelanosome amyloid-like fibrils are composed of only golgi-processed forms of Pmel17 that have been proteolytically processed in endosomes.

Authors:  Dawn C Harper; Alexander C Theos; Kathryn E Herman; Danièle Tenza; Graça Raposo; Michael S Marks
Journal:  J Biol Chem       Date:  2007-11-08       Impact factor: 5.157

Review 3.  The Silver locus product Pmel17/gp100/Silv/ME20: controversial in name and in function.

Authors:  Alexander C Theos; Steven T Truschel; Graça Raposo; Michael S Marks
Journal:  Pigment Cell Res       Date:  2005-10

4.  Retrotransposon insertion in SILV is responsible for merle patterning of the domestic dog.

Authors:  Leigh Anne Clark; Jacquelyn M Wahl; Christine A Rees; Keith E Murphy
Journal:  Proc Natl Acad Sci U S A       Date:  2006-01-09       Impact factor: 11.205

5.  Autoantibodies to human melanocyte-specific protein pmel17 in the sera of vitiligo patients: a sensitive and quantitative radioimmunoassay (RIA).

Authors:  E H Kemp; D J Gawkrodger; P F Watson; A P Weetman
Journal:  Clin Exp Immunol       Date:  1998-12       Impact factor: 4.330

6.  Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.

Authors:  Saunie M Hutton; Richard A Spritz
Journal:  J Invest Dermatol       Date:  2008-05-08       Impact factor: 8.551
  6 in total

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