Oca2

Summary

Gene Symbol: Oca2
Description: oculocutaneous albinism II
Alias: D7H15S12, D7Icr28RN, D7Nic1, p, P protein, Oca2, melanocyte-specific transporter protein, pink-eyed dilution protein
Species: mouse
Products:     Oca2

Top Publications

  1. Rinchik E, Bultman S, Horsthemke B, Lee S, Strunk K, Spritz R, et al. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature. 1993;361:72-6 pubmed
    ..In addition, we report a mutation in both copies of the human P gene in one case of tyrosinase-positive (type II) oculocutaneous albinism, recently linked to 15q11-q13 (ref. 9)...
  2. Lee S, Nicholls R, Jong M, Fukai K, Spritz R. Organization and sequence of the human P gene and identification of a new family of transport proteins. Genomics. 1995;26:354-63 pubmed
    ..Mutations of the P gene result in type II oculocutaneous albinism (OCA2) in humans and pink-eyed dilution (p) in mice...
  3. Hoyle D, Rodriguez Fernandez I, Dell Angelica E. Functional interactions between OCA2 and the protein complexes BLOC-1, BLOC-2, and AP-3 inferred from epistatic analyses of mouse coat pigmentation. Pigment Cell Melanoma Res. 2011;24:275-81 pubmed publisher
    ..b>OCA2, the product of the gene defective in oculocutaneous albinism type 2, is a melanosomal membrane protein with ..
  4. Gondo Y, Gardner J, Nakatsu Y, Durham Pierre D, Deveau S, Kuper C, et al. High-frequency genetic reversion mediated by a DNA duplication: the mouse pink-eyed unstable mutation. Proc Natl Acad Sci U S A. 1993;90:297-301 pubmed
    ..Thus, the reversion in phenotype of p(un) mice is coupled with the loss of one copy of an approximately 70-kilobase duplicated segment. Testable models are presented to account for p(un) reversion. ..
  5. Shoji H, Kiniwa Y, Okuyama R, Yang M, Higuchi K, Mori M. A nonsense nucleotide substitution in the oculocutaneous albinism II gene underlies the original pink-eyed dilution allele (Oca2(p)) in mice. Exp Anim. 2015;64:171-9 pubmed publisher
    ..The oculocutaneous albinism II (Oca2) gene has previously been identified as the p gene...
  6. Pretsch W, Merkle S. Glucose phosphate isomerase enzyme-activity mutants in Mus musculus: genetical and biochemical characterization. Biochem Genet. 1990;28:97-110 pubmed
    ..The similarity of the mutant enzymes to the allozymes found in human GPI deficiencies indicates the GPI deficient mouse mutants to be excellent models for the human disease. ..
  7. Lanning J, Wallace J, Zhang D, Diwakar G, Jiao Z, Hornyak T. Altered melanocyte differentiation and retinal pigmented epithelium transdifferentiation induced by Mash1 expression in pigment cell precursors. J Invest Dermatol. 2005;125:805-17 pubmed
  8. Vitaterna M, Wu J, Turek F, Pinto L. Reduced light sensitivity of the circadian clock in a hypopigmented mouse mutant. Exp Brain Res. 1993;95:436-42 pubmed
    ..Taken together, these results indicate that while basic characteristics of circadian clock function are not altered by the pink-eyed dilution mutation, the sensitivity of the clock to light is reduced.(ABSTRACT TRUNCATED AT 250 WORDS) ..
  9. Hirobe T, Wakamatsu K, Ito S. Effects of genic substitution at the agouti, brown, albino, dilute, and pink-eyed dilution loci on the proliferation and differentiation of mouse epidermal melanocytes in serum-free culture. Eur J Cell Biol. 1998;75:184-91 pubmed

More Information

Publications62

  1. Snell G, Stevens L. Histocompatibility genes of mice. III. H-1 and H-4, two histocompatibility loci in the first linkage group. Immunology. 1961;4:366-79 pubmed
  2. Taylor B, Rowe L. Genes for serum amyloid A proteins map to Chromosome 7 in the mouse. Mol Gen Genet. 1984;195:491-9 pubmed
    ..A survey of inbred strains revealed a single common Saa haplotype and eight rare haplotypes. The complex distribution of 14 different variants suggests that recombination may have played a role in haplotype evolution. ..
  3. Morel L, Mohan C, Yu Y, Schiffenbauer J, Rudofsky U, Tian N, et al. Multiplex inheritance of component phenotypes in a murine model of lupus. Mamm Genome. 1999;10:176-81 pubmed
    ..Each of NZM2410 susceptibility loci can be aligned with a specific genetic pathways contributing to SLE pathogenesis on the basis of the spectrum of component phenotypes expressed. ..
  4. Culiat C, Stubbs L, Woychik R, Russell L, Johnson D, Rinchik E. Deficiency of the beta 3 subunit of the type A gamma-aminobutyric acid receptor causes cleft palate in mice. Nat Genet. 1995;11:344-6 pubmed
    ..We now show that such transgenic mice are phenotypically normal, indicating that Gabrb3 is indeed the cp1 locus. ..
  5. Brown S, Chartier F, Johnson K, Cavanna J. Mapping the Hrc gene to proximal mouse chromosome 7: delineation of a conserved linkage group with human 19q. Genomics. 1993;18:459-61 pubmed
  6. Seller M, Wallace M. Tail short variable: characterization of a new mouse mutant, and its possible analogy to certain human vascular disruption defects. Teratology. 1993;48:383-91 pubmed
    ..It is suggested that Tsv could be a mouse model for human conditions involving transverse terminal limb defects such as Moebius and de Lange syndromes. ..
  7. Resnick J, Nicholls R, Wevrick R. Recommendations for the investigation of animal models of Prader-Willi syndrome. Mamm Genome. 2013;24:165-78 pubmed publisher
    ..Here, we summarize the goals of the AMWG, describe current animal models of PWS, and make recommendations for strategies to maximize the utility of animal models and for the development and use of new animal models of PWS. ..
  8. Lehman A, Nakatsu Y, Ching A, Bronson R, Oakey R, Keiper Hrynko N, et al. A very large protein with diverse functional motifs is deficient in rjs (runty, jerky, sterile) mice. Proc Natl Acad Sci U S A. 1998;95:9436-41 pubmed
    ..In addition to this proposed mode of action, alternative functions of the rjs gene are evaluated in light of its known protein homologies. ..
  9. Spritz R. Molecular genetics of oculocutaneous albinism. Hum Mol Genet. 1994;3 Spec No:1469-75 pubmed
  10. Wallace M, MacSwiney F. A major gene controlling warfarin-resistance in the house mouse. J Hyg (Lond). 1976;76:173-81 pubmed
    ..The adaptive significance of the finding is discussed, as also are reports of certain other mutants in wild populations of mice. ..
  11. Hearing V, Phillips P, Lutzner M. The fine structure of melanogenesis in coat color mutants of the mouse. J Ultrastruct Res. 1973;43:88-106 pubmed
  12. Melvold R. The effects of mutant p-alleles on the reproductive system in mice. Genet Res. 1974;23:319-25 pubmed
  13. Eicher E. The Position of ru-2 and qv with Respect to the FLECKED Translocation in the Mouse. Genetics. 1970;64:495-510 pubmed
  14. Leff S, Brannan C, Reed M, Ozcelik T, Francke U, Copeland N, et al. Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader-Willi syndrome region. Nat Genet. 1992;2:259-64 pubmed
  15. Favor J. Mechanisms of mutation induction in germ cells of the mouse as assessed by the specific locus test. Mutat Res. 1999;428:227-36 pubmed
    ..e) With the cloning of all 7 marker loci mutation analysis at the molecular level will allow a more direct assessment of the mutation process in future studies. ..
  16. Oakey R, Keiper N, Ching A, Brilliant M. Molecular analysis of the cDNAs encoded by the pun and pJ alleles of the pink-eyed dilution locus. Mamm Genome. 1996;7:315-6 pubmed
  17. Hirobe T, Wakamatsu K, Ito S, Abe H, Kawa Y, Mizoguchi M. Stimulation of the proliferation and differentiation of mouse pink-eyed dilution epidermal melanocytes by excess tyrosine in serum-free primary culture. J Cell Physiol. 2002;191:162-72 pubmed
    ..These results suggest that p/p melanocytes in the primary culture are induced to synthesize eumelanin by excess L-Tyr, but difficult to accumulate them in melanosomes. ..
  18. Cattanach B, Barr J, Beechey C, Martin J, Noebels J, Jones J. A candidate model for Angelman syndrome in the mouse. Mamm Genome. 1997;8:472-8 pubmed
    ..A mouse model of AS is, therefore, strongly indicated. ..
  19. Feldman H. Linkage of Albino Allelomorphs in Rats and Mice. Genetics. 1924;9:487-92 pubmed
  20. Culiat C, Stubbs L, Montgomery C, Russell L, Rinchik E. Phenotypic consequences of deletion of the gamma 3, alpha 5, or beta 3 subunit of the type A gamma-aminobutyric acid receptor in mice. Proc Natl Acad Sci U S A. 1994;91:2815-8 pubmed
    ..The absence of an overt neurological phenotype in mice lacking the gamma 3 and/or alpha 5 subunits also suggests that mutations in these genes are unlikely to provide useful animal models for Angelman syndrome in humans. ..
  21. Rosemblat S, Durham Pierre D, Gardner J, Nakatsu Y, Brilliant M, Orlow S. Identification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) gene. Proc Natl Acad Sci U S A. 1994;91:12071-75 pubmed
  22. Park S, Morya V, Nguyen D, Singh B, Lee H, Kim E. Unrevealing the role of P-protein on melanosome biology and structure, using siRNA-mediated down regulation of OCA2. Mol Cell Biochem. 2015;403:61-71 pubmed publisher
    ..Results suggested that the inhibition of P-protein can significantly change the melanosomal morphology, types and their respective numbers, and provided a novel strategy for the control of melanin synthesis. ..
  23. Archer J. Inheritance of the macrophage alloantigenic marker (Mph-1) in inbred mice. Genet Res. 1975;26:213-9 pubmed
  24. Agarwal N, Jomary C, Jones S, O Rourke K, Chaitin M, Wordinger R, et al. Immunocytochemical colocalization of clusterin in apoptotic photoreceptor cells in retinal degeneration slow rds mutant mouse retinas. Biochem Biophys Res Commun. 1996;225:84-91 pubmed
    ..These results are of interest since overexpression of clusterin is also observed in other neuro-degenerative diseases such as Alzheimer's and Pick's disease. ..
  25. Russell E. A quantitative histological study of the pigment found in the coat-color mutants of the house mouse; interdependence among the variable granule attributes. Genetics. 1949;34:133-45 pubmed
  26. Gahl W, Potterf B, Durham Pierre D, Brilliant M, Hearing V. Melanosomal tyrosine transport in normal and pink-eyed dilution murine melanocytes. Pigment Cell Res. 1995;8:229-33 pubmed
    ..These data indicate that a tyrosine transport system exists in the melanosomal membrane and that the p gene does not encode a tyrosine transporter of critical importance. ..
  27. Homanics G, DeLorey T, Firestone L, Quinlan J, Handforth A, Harrison N, et al. Mice devoid of gamma-aminobutyrate type A receptor beta3 subunit have epilepsy, cleft palate, and hypersensitive behavior. Proc Natl Acad Sci U S A. 1997;94:4143-8 pubmed
    ..Hyperactivity, lack of coordination, and seizures are consistent with reduced presynaptic inhibition in spinal cord and impaired inhibition in higher cortical centers and/or pleiotropic developmental defects. ..
  28. Greenfield A, Brown S. Microdissection and microcloning from the proximal region of mouse chromosome 7: isolation of clones genetically linked to the pudgy locus. Genomics. 1987;1:153-8 pubmed
    ..This bank of chromosome 7-derived microclones should provide molecular start points for the isolation of a variety of developmental loci of unknown gene product, including the pudgy locus. ..
  29. Oetting W, King R. Molecular basis of oculocutaneous albinism. J Invest Dermatol. 1994;103:131S-136S pubmed
    ..To date, two different types of OCA (OCA1 and OCA2) have been mapped to specific chromosomal regions...
  30. Morel L, Rudofsky U, Longmate J, Schiffenbauer J, Wakeland E. Polygenic control of susceptibility to murine systemic lupus erythematosus. Immunity. 1994;1:219-29 pubmed
    ..Logistic regression analysis indicated that each of these susceptibility alleles independently accounted for a component of GN susceptibility, and that susceptibility was inherited as a threshold genetic liability in this model system. ..
  31. Castle W, Wachter W. Variations of Linkage in Rats and Mice. Genetics. 1924;9:1-12 pubmed
  32. Fernandez A, Castellanos C, Rodriguez C, Noguera J, Sanchez A, Ovilo C. Physical and linkage mapping of the porcine pink-eye dilution gene ( OCA2 ). Anim Genet. 2002;33:392-4 pubmed
  33. Hirobe T, Kawa Y, Mizoguchi M, Ito S, Wakamatsu K. Effects of genic substitution at the pink-eyed dilution locus on the proliferation and differentiation of mouse epidermal melanocytes in vivo and in vitro. J Exp Zool. 2002;292:351-66 pubmed
    ..These results suggest for the first time that p gene exerts its influence on the proliferative activities of mouse epidermal melanoblasts by affecting the regulatory mechanisms dependent on the function of ETs. ..
  34. Russell L, Hunsicker P, Kerley M, Johnson D, Shelby M. Bleomycin, unlike other male-mouse mutagens, is most effective in spermatogonia, inducing primarily deletions. Mutat Res. 2000;469:95-105 pubmed
    ..Thus, BLM, while not female-specific, is unique, (a) in its germ-cell-stage specificity in males, and (b) in inducing a type of mutation (deletions) that is atypical for the responding germ-cell stages (spermatogonia). ..
  35. Stephenson D, Hornby J. Gene expression at the pink-eyed dilution (p) locus in the mouse is confirmed to be pigment cell autonomous using recombinant embryonic skin grafts. J Embryol Exp Morphol. 1985;87:65-73 pubmed
    ..Control experiments confirmed the dermal influence of agouti (A) over non-agouti (a) epidermis but non-agouti dermis did not overrule agouti pink-eyed dilution (AA pp) epidermis suggesting an epistatic effect of p in the melanocyte. ..
  36. Mendoza L, Villaflor G, Eden P, Roopenian D, Shastri N. Distinguishing self from nonself: immunogenicity of the murine H47 locus is determined by a single amino acid substitution in an unusual peptide. J Immunol. 2001;166:4438-45 pubmed
    ..The results provide insights into the peptide universe that defines nonself and the basis of histoincompatibility. ..
  37. Toyofuku K, Valencia J, Kushimoto T, Costin G, Virador V, Vieira W, et al. The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase. Pigment Cell Res. 2002;15:217-24 pubmed
    ..tyrosinase, Tyrp1, Dct, Pmel17 and HMB45), including a specific set of polyclonal antibodies against the p protein. We used confocal immunohistochemistry to compare the processing and distribution of those melanosomal proteins ..
  38. Moyer F. Genetic variations in the fine structure and ontogeny of mouse melanin granules. Am Zool. 1966;6:43-66 pubmed
  39. Melvold R. Spontaneous somatic reversion in mice. Effects of parental genotype on stability at the p-locus. Mutat Res. 1971;12:171-4 pubmed
  40. Wu M, Rinchik E, Johnson D. An integrated deletion and physical map encompassing l71Rl, a chromosome 7 locus required for peri-implantation survival in the mouse. Genomics. 2000;67:228-31 pubmed
    ..This map defines the minimum critical interval for l71Rl as an 80- to 300-kb region. This sequence-ready deletion/physical map should enable the cloning and characterization of the l71Rl gene(s). ..
  41. Orlow S, Brilliant M. The pink-eyed dilution locus controls the biogenesis of melanosomes and levels of melanosomal proteins in the eye. Exp Eye Res. 1999;68:147-54 pubmed
    ..Our results demonstrate that mutations at the p locus affect the size, number, shape and contents of melanosomes, implicating the p gene product in the normal biogenesis of this organelle. ..
  42. Nicholls R, Gottlieb W, Russell L, Davda M, Horsthemke B, Rinchik E. Evaluation of potential models for imprinted and nonimprinted components of human chromosome 15q11-q13 syndromes by fine-structure homology mapping in the mouse. Proc Natl Acad Sci U S A. 1993;90:2050-4 pubmed
    ..Deletions at the mouse p locus should serve as intermediate genetic reagents and models with which to analyze the genetics and etiology of individual components of human 15q11-q13 disorders. ..
  43. Hirobe T, Terunuma E. Reduced proliferative and differentiative activity of mouse pink-eyed dilution melanoblasts is related to apoptosis. Zoolog Sci. 2012;29:725-32 pubmed publisher
    ..These results suggest that the increased apoptosis in keratinocytes and melanoblasts/melanocytes is related to the reduced proliferative and differentiative activity of p/p melanoblasts. ..
  44. Pretsch W. Eight independent Ldh-1 mutations of the mouse recovered in mutagenicity experiments: biochemical characteristics and chromosomal localization. Genet Res. 1989;53:101-4 pubmed
    ..Using two chromosome-7 marker genes pooled recombination frequencies are estimated as c-14.4 +/- 0.8-p-6.9 +/- 0.6-Ldh-1. ..
  45. Barsh G. The genetics of pigmentation: from fancy genes to complex traits. Trends Genet. 1996;12:299-305 pubmed
    ..Recent developments show that homologous genes in humans are responsible not only for rare diseases, such as albinism and piebaldism, but also for common phenotypic variations, such as red hair and fair skin. ..
  46. Wolfe H. Effects on sperm morphology by alleles at the pink-eyed dilution locus in mice. Genetics. 1977;85:303-8 pubmed
  47. Ishikawa A, Sugiyama M, Hondo E, Kinoshita K, Yamagishi Y. Development of a novel pink-eyed dilution mouse model showing progressive darkening of the eyes and coat hair with aging. Exp Anim. 2015;64:207-20 pubmed publisher
    b>Oca2(p-cas) (oculocutaneous albinism II; pink-eyed dilution castaneus) is a coat color mutant gene on mouse chromosome 7 that arose spontaneously in wild Mus musculus castaneus mice...
  48. Sitaram A, Dennis M, Chaudhuri R, De Jesus Rojas W, Tenza D, Setty S, et al. Differential recognition of a dileucine-based sorting signal by AP-1 and AP-3 reveals a requirement for both BLOC-1 and AP-3 in delivery of OCA2 to melanosomes. Mol Biol Cell. 2012;23:3178-92 pubmed
    ..we exploit targeted mutagenesis of the acidic dileucine-based sorting signal in the pigment cell-specific protein OCA2 to dissect the relative roles of AP-1 and AP-3 in transport to melanosomes...
  49. Markert C, Silvers W. The Effects of Genotype and Cell Environment on Melanoblast Differentiation in the House Mouse. Genetics. 1956;41:429-50 pubmed
  50. Fitter S, Seldin M, Ashman L. Characterisation of the mouse homologue of CD151 (PETA-3/SFA-1); genomic structure, chromosomal localisation and identification of 2 novel splice forms. Biochim Biophys Acta. 1998;1398:75-85 pubmed
    ..Cd151 maps to chromosome 7, in close linkage to the p gene (OCA2 in humans), and helps define a boundary in the human/mouse homology relationships.
  51. Brilliant M, King R, Francke U, Schuffenhauer S, Meitinger T, Gardner J, et al. The mouse pink-eyed dilution gene: association with hypopigmentation in Prader-Willi and Angelman syndromes and with human OCA2. Pigment Cell Res. 1994;7:398-402 pubmed
    ..A subset of PWS and AS patients also have OCA2. These patients lack one copy of the P gene in the context of a PWS or AS deletion, with a mutation in the ..
  52. Brilliant M, Gondo Y, Eicher E. Direct molecular identification of the mouse pink-eyed unstable mutation by genome scanning. Science. 1991;252:566-9 pubmed
    ..The duplication associated with the mouse pink-eyed unstable mutation may mediate the high reversion frequency characteristic of this mutation. ..
  53. Bryan J. Spermatogenesis revisited. III. The course of spermatogenesis in a male-sterile pink-eyed mutant type in the mouse. Cell Tissue Res. 1977;180:173-86 pubmed
    ..Therefore the development of the sperm head is probably under a group of genes different from those of the flagella. ..