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

Tu Bailin; Seung Taek Lee; Richard A. Spritz

doi:10.1111/1523-1747.ep12326976

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

Tu Bailin, Seung Taek Lee, Richard A. Spritz

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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.

Original language	English
Pages (from-to)	24-27
Number of pages	4
Journal	Journal of Investigative Dermatology
Volume	106
Issue number	1
DOIs	https://doi.org/10.1111/1523-1747.ep12326976
Publication status	Published - 1996

All Science Journal Classification (ASJC) codes

Biochemistry
Molecular Biology
Dermatology
Cell Biology

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

Abstract

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