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 languageEnglish
Pages (from-to)24-27
Number of pages4
JournalJournal of Investigative Dermatology
Volume106
Issue number1
DOIs
Publication statusPublished - 1996 Jan 1

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All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Dermatology
  • Cell Biology

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