OCA2

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Oculocutaneous albinism II (pink-eye dilution homolog, mouse)
Identifiers
Symbol(s) OCA2; BOCA; D15S12; P; PED
External IDs OMIM: 203200 MGI: 97454 HomoloGene: 37281
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 4948 18431
Ensembl ENSG00000104044 ENSMUSG00000030450
Uniprot Q04671 Q0VBP9
Refseq NM_000275 (mRNA)
NP_000266 (protein)		 NM_021879 (mRNA)
NP_068679 (protein)
Location Chr 15: 25.67 - 26.02 Mb Chr 7: 56.11 - 56.4 Mb
Pubmed search [1] [2]

Oculocutaneous albinism II (pink-eye dilution homolog, mouse), also known as OCA2, is a human gene.[1]

OCA2 encodes the human homologue of the mouse p (pink-eyed dilution) gene. The P protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine - a precursor of melanin. Mutations in OCA2 result in type 2 oculocutaneous albinism.[1]

A mutation in the OCA2 is found common to nearly all people with blue eyes, and has made the theory that all blue eyed humans share a single common ancestor with whom the mutation originated. [2]

[edit] References

  1. ^ a b Entrez Gene: OCA2 oculocutaneous albinism II (pink-eye dilution homolog, mouse).
  2. ^ MSNBC "Genetic mutation makes those brown eyes blue", Livescience.com "One Common Ancestor Behind Blue Eyes", University of Copenhagen "Blue-eyed humans have a single, common ancestor"

[edit] Further reading

  • Oetting WS, King RA (1999). "Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.". Hum. Mutat. 13 (2): 99–115. doi:10.1002/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.0.CO;2-C. PMID 10094567. 
  • Brilliant MH (2001). "The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH.". Pigment Cell Res. 14 (2): 86–93. PMID 11310796. 
  • Ramsay M, Colman MA, Stevens G, et al. (1992). "The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12.". Am. J. Hum. Genet. 51 (4): 879–84. PMID 1415228. 
  • Gardner JM, Nakatsu Y, Gondo Y, et al. (1992). "The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes.". Science 257 (5073): 1121–4. PMID 1509264. 
  • Ludowese CJ, Thompson KJ, Sekhon GS, Pauli RM (1992). "Absence of predictable phenotypic expression in proximal 15q duplications.". Clin. Genet. 40 (3): 194–201. PMID 1773534. 
  • Lee ST, Nicholls RD, Jong MT, et al. (1995). "Organization and sequence of the human P gene and identification of a new family of transport proteins.". Genomics 26 (2): 354–63. PMID 7601462. 
  • Spritz RA, Fukai K, Holmes SA, Luande J (1995). "Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2).". Am. J. Hum. Genet. 56 (6): 1320–3. PMID 7762554. 
  • Lee ST, Nicholls RD, Schnur RE, et al. (1995). "Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2).". Hum. Mol. Genet. 3 (11): 2047–51. PMID 7874125. 
  • Durham-Pierre D, Gardner JM, Nakatsu Y, et al. (1994). "African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism.". Nat. Genet. 7 (2): 176–9. doi:10.1038/ng0694-176. PMID 7920637. 
  • Lee ST, Nicholls RD, Bundey S, et al. (1994). "Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.". N. Engl. J. Med. 330 (8): 529–34. PMID 8302318. 
  • Rinchik EM, Bultman SJ, Horsthemke B, et al. (1993). "A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism.". Nature 361 (6407): 72–6. doi:10.1038/361072a0. PMID 8421497. 
  • Spritz RA, Lee ST, Fukai K, et al. (1997). "Novel mutations of the P gene in type II oculocutaneous albinism (OCA2).". Hum. Mutat. 10 (2): 175–7. doi:10.1002/(SICI)1098-1004(1997)10:2<175::AID-HUMU12>3.0.CO;2-X. PMID 9259203. 
  • Kerr R, Stevens G, Manga P, et al. (2000). "Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa.". Hum. Mutat. 15 (2): 166–72. doi:10.1002/(SICI)1098-1004(200002)15:2<166::AID-HUMU5>3.0.CO;2-Z. PMID 10649493. 
  • Oetting WS, Gardner JM, Fryer JP, et al. (2000). "Mutations of the human P gene associated with Type II oculocutaneous albinism (OCA2). Mutations in brief no. 205. Online.". Hum. Mutat. 12 (6): 434. doi:10.1002/(SICI)1098-1004(1998)12:6<434::AID-HUMU16>3.0.CO;2-7. PMID 10671067. 
  • Passmore LA, Kaesmann-Kellner B, Weber BH (2000). "Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population.". Hum. Genet. 105 (3): 200–10. PMID 10987646. 
  • Manga P, Kromberg J, Turner A, et al. (2001). "In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified.". Am. J. Hum. Genet. 68 (3): 782–7. PMID 11179026. 
  • Manga P, Orlow SJ (2002). "Inverse correlation between pink-eyed dilution protein expression and induction of melanogenesis by bafilomycin A1.". Pigment Cell Res. 14 (5): 362–7. PMID 11601658. 
  • Toyofuku K, Valencia JC, Kushimoto T, et al. (2002). "The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase.". Pigment Cell Res. 15 (3): 217–24. PMID 12028586. 
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