title: Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4.
abstract: Oculocutaneous albinism (OCA) affects approximately 1/20,000 people worldwide. All forms of OCA exhibit generalized hypopigmentation. Reduced pigmentation during eye development results in misrouting of the optic nerves, nystagmus, alternating strabismus, and reduced visual acuity. Loss of pigmentation in the skin leads to an increased risk for skin cancer. Two common forms and one infrequent form of OCA have been described. OCA1 (MIM 203100) is associated with mutations of the TYR gene encoding tyrosinase (the rate-limiting enzyme in the production of melanin pigment) and accounts for approximately 40% of OCA worldwide. OCA2 (MIM 203200), the most common form of OCA, is associated with mutations of the P gene and accounts for approximately 50% of OCA worldwide. OCA3 (MIM 203290), a rare form of OCA and also known as "rufous/red albinism," is associated with mutations in TYRP1 (encoding tyrosinase-related protein 1). Analysis of the TYR and P genes in patients with OCA suggests that other genes may be associated with OCA. We have identified the mouse underwhite gene (uw) and its human orthologue, which underlies a new form of human OCA, termed "OCA4." The encoded protein, MATP (for "membrane-associated transporter protein") is predicted to span the membrane 12 times and likely functions as a transporter.
authors.affiliation: Department of Pediatrics, University of Arizona College of Medicine, Tucson, AZ 85724, USA.
authors.forename: J M
authors.initials: JM
authors.lastname: Newton
authors.forename: O
authors.initials: O
authors.lastname: Cohen-Barak
authors.forename: N
authors.initials: N
authors.lastname: Hagiwara
authors.forename: J M
authors.initials: JM
authors.lastname: Gardner
authors.forename: M T
authors.initials: MT
authors.lastname: Davisson
authors.forename: R A
authors.initials: RA
authors.lastname: King
authors.forename: M H
authors.initials: MH
authors.lastname: Brilliant
mesh_terms: D000328:Adult; D016115:Albinism, Oculocutaneous / Q000145:classification* / Q000235:genetics* / Q000503:physiopathology; D000483:Alleles; D000595:Amino Acid Sequence; D000818:Animals; D000951:Antigens, Neoplasm; D002675:Child, Preschool; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D003001:Cloning, Molecular; D017124:Conserved Sequence; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005123:Eye / Q000378:metabolism / Q000473:pathology; D006720:Homozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins; D026901:Membrane Transport Proteins; D051379:Mice; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D020161:Physical Chromosome Mapping; D010858:Pigmentation / Q000235:genetics; D011487:Protein Conformation; D011506:Proteins / Q000737:chemistry / Q000235:genetics*; D012333:RNA, Messenger / Q000032:analysis / Q000235:genetics; D016415:Sequence Alignment; D027981:Symporters
chemical_list: D000951:Antigens, Neoplasm; C486338:Matp protein, mouse; D008565:Membrane Proteins; D026901:Membrane Transport Proteins; D011506:Proteins; D012333:RNA, Messenger; C510061:SLC45A2 protein, human; D027981:Symporters