Organization and sequence of the human P gene and identification of a new family of transport proteins

Seung Taek Lee, Robert D. Nicholls, Michelle T.C. Jong, Kazuyoshi Fukai, Richard A. Spritz

Research output: Contribution to journalArticle

143 Citations (Scopus)

Abstract

We have determined the structure, nucleotide sequence, and polymorphisms of the human P gene. Mutations of the P gene result in type II oculocutaneous albinism (OCA2) in humans and pink-eyed dilution (p) in mice. We find that the human P gene is quite large, consisting of 25 exons spanning 250 to 600 kb in chromosome segment 15q11-q13. The P polypeptide appears to define a novel family of small molecule transporters and may be involved in transport of tyrosine, the precursor to melanin synthesis, within the melanocyte. These results provide the basis for analyses of patients with OCA2 and may point toward eventual pharmacologic treatment of this and related disorders of pigmentation.

Original languageEnglish
Pages (from-to)354-363
Number of pages10
JournalGenomics
Volume26
Issue number2
DOIs
Publication statusPublished - 1995 Mar 20

All Science Journal Classification (ASJC) codes

  • Genetics

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