title: Organization and sequence of the human P gene and identification of a new family of transport proteins.
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.
authors.affiliation: Department of Medical Genetics, University of Wisconsin School of Medicine, Madison 53706, USA.
authors.forename: S T
authors.initials: ST
authors.lastname: Lee
authors.forename: R D
authors.initials: RD
authors.lastname: Nicholls
authors.forename: M T
authors.initials: MT
authors.lastname: Jong
authors.forename: K
authors.initials: K
authors.lastname: Fukai
authors.forename: R A
authors.initials: RA
authors.lastname: Spritz
mesh_terms: D016115:Albinism, Oculocutaneous / Q000235:genetics*; D000483:Alleles; D000595:Amino Acid Sequence; D000818:Animals; D001426:Bacterial Proteins / Q000235:genetics; D001483:Base Sequence; D002352:Carrier Proteins / Q000145:classification / Q000235:genetics*; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15; D005006:Ethnicity / Q000235:genetics; D005091:Exons; D005796:Genes; D005808:Genes, Recessive; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D026901:Membrane Transport Proteins; D051379:Mice; D008969:Molecular Sequence Data; D005810:Multigene Family; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic; D044469:Racial Groups / Q000235:genetics; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid; D013045:Species Specificity; D014443:Tyrosine / Q000378:metabolism
chemical_list: D001426:Bacterial Proteins; D002352:Carrier Proteins; D008565:Membrane Proteins; D026901:Membrane Transport Proteins; C489600:OCA2 protein, human; D014443:Tyrosine