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

Genomics. 1995 Mar 20;26(2):354-63. doi: 10.1016/0888-7543(95)80220-g.

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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Albinism, Oculocutaneous / genetics*
  • Alleles
  • Amino Acid Sequence
  • Animals
  • Bacterial Proteins / genetics
  • Base Sequence
  • Carrier Proteins / classification
  • Carrier Proteins / genetics*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 15*
  • Continental Population Groups / genetics
  • Ethnic Groups / genetics
  • Exons
  • Genes*
  • Genes, Recessive*
  • Humans
  • Membrane Proteins / genetics*
  • Membrane Transport Proteins*
  • Mice
  • Molecular Sequence Data
  • Multigene Family*
  • Polymerase Chain Reaction
  • Promoter Regions, Genetic
  • Sequence Alignment
  • Sequence Homology, Amino Acid
  • Species Specificity
  • Tyrosine / metabolism

Substances

  • Bacterial Proteins
  • Carrier Proteins
  • Membrane Proteins
  • Membrane Transport Proteins
  • OCA2 protein, human
  • Tyrosine

Associated data

  • GENBANK/U19152
  • GENBANK/U19153
  • GENBANK/U19154
  • GENBANK/U19155
  • GENBANK/U19156
  • GENBANK/U19157
  • GENBANK/U19158
  • GENBANK/U19159
  • GENBANK/U19160
  • GENBANK/U19161
  • GENBANK/U19162
  • GENBANK/U19163
  • GENBANK/U19164
  • GENBANK/U19165
  • GENBANK/U19166
  • GENBANK/U19167
  • GENBANK/U19168
  • GENBANK/U19169
  • GENBANK/U19170
  • GENBANK/U19171
  • GENBANK/U19172
  • GENBANK/U19173
  • GENBANK/U19174
  • GENBANK/U19175
  • GENBANK/U19176