The Mouse p (pink‐eyed dilution) and Human P Genes, Oculocutaneous Albinism Type 2 (OCA2), and Melanosomal pH

H. BRILLIANT, MURRAY

doi:10.1034/j.1600-0749.2001.140203.x

Cited by 193melanin and skin pigmentationCalcium signaling and nucleotide metabolismGenetic and rare skin diseases.

The Mouse p (pink‐eyed dilution) and Human P Genes, Oculocutaneous Albinism Type 2 (OCA2), and Melanosomal pH

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H. BRILLIANT, MURRAY·2001·Pigment Cell Research

DOI 10.1034/j.1600-0749.2001.140203.x

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Abstract

Recessive mutations of the mouse p (pink-eyed dilution) gene lead to hypopigmentation of the eyes, skin, and fur. Mice lacking a functional p protein have pink eyes and light gray fur (if non-agouti) or cream-colored fur (if agouti). The human orthologue is the P protein. Humans lacking a functional P protein have oculocutaneous albinism type 2 (OCA2). Melanocytes from p-deficient mice or OCA2 individuals contain small, minimally pigmented melanosomes. The mouse and human proteins are predicted to have 12 membrane spanning domains and possess significant sequence homology to a number of membrane transport proteins, some of which are involved in the transport of anions. The p protein has been localized to the melanosome membrane. Recently, it has been shown that melanosomes from p protein-deficient melanocytes have an abnormal pH. Melanosomes in cultured melanocytes derived from wild-type mice are typically acidic, whereas melanosomes from p protein-deficient mice are non-acidic. Melanosomes and related endosome-derived organelles (i.e., lysosomes) are thought to have an adenosine triphosphate (ATP)-driven proton pump that helps to generate an acidic lumen. To compensate for the charge of these protons, anions must also be transported to the lumen of the melanosome. In light of these observations, a model of p protein function is presented in which the p protein, together with the ATP-driven proton pump, regulates the pH of the melanosome.

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“loss-of-function for OCA2 can cause blindness due to loss of melanin from retinal pigment epithelial cells [31]”
From Genetic Architecture of Skin and Eye Color in an African-European Admixed Population (2013) · cites this paper as [31]

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Skin pigmentation, biogeographical ancestry and admixture mapping
Shriver, M. D., Parra, E. J., Dios, S., Bonilla, C., Norton, H., Jovel, C., Pfaff, C., Jones, C., Massac, A., Cameron, N., et al. (2003) · Human Genetics · doi:10.1007/s00439-002-0896-y · Cited by 549 · see citing works
A Single SNP in an Evolutionary Conserved Region within Intron 86 of the HERC2 Gene Determines Human Blue-Brown Eye Color
Sturm, R. A., Duffy, D. L., Zhao, Z. Z., Leite, F. P. N., Stark, M. S., Hayward, N. K., Martin, N. G., & Montgomery, G. W. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.11.005 · Cited by 378 · see citing works
Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene
Kayser, M., Liu, F., Janssens, A. C. J. W., Rivadeneira, F., Lao, O., van Duijn, K., Vermeulen, M., Arp, P., Jhamai, M. M., van IJcken, W. F. J., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.10.003 · Cited by 260 · see citing works
Signatures of positive selection in genes associated with human skin pigmentation as revealed from analyses of single nucleotide polymorphisms
Lao, O., de Gruijter, J. M., van Duijn, K., Navarro, A., & Kayser, M. (2007) · Annals of Human Genetics · doi:10.1111/j.1469-1809.2006.00341.x · Cited by 231 · see citing works
A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation
Duffy, D. L., Montgomery, G. W., Chen, W., Zhao, Z. Z., Le, L., James, M. R., Hayward, N. K., Martin, N. G., & Sturm, R. A. (2007) · The American Journal of Human Genetics · doi:10.1086/510885 · Cited by 240 · see citing works
Genetic Architecture of Skin and Eye Color in an African-European Admixed Population
Beleza, S., Johnson, N. A., Candille, S. I., Absher, D. M., Coram, M. A., Lopes, J., Campos, J., Araújo, I. I., Anderson, T. M., Vilhjálmsson, B. J., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003372 · Cited by 161 · see citing works
The Dark Side of Lysosome‐Related Organelles: Specialization of the Endocytic Pathway for Melanosome Biogenesis
Raposo, G., & Marks, M. S. (2002) · Traffic · doi:10.1034/j.1600-0854.2002.030401.x · Cited by 161 · see citing works
Ethnic variation in tyrosinase and TYRP1 expression in photoexposed and photoprotected human skin
Alaluf, S., Barrett, K., Blount, M., & Carter, N. (2003) · Pigment Cell Research · doi:10.1034/j.1600-0749.2003.00005.x · Cited by 56 · see citing works
Intraspecific eye color variability in birds and mammals: a recent evolutionary event exclusive to humans and domestic animals
Negro, J. J., Carmen Blázquez, M., & Galván, I. (2017) · Frontiers in Zoology · doi:10.1186/s12983-017-0243-8 · Cited by 42 · see citing works

Authors: H. BRILLIANT, M.
Venue: Pigment Cell Research
Publisher: Wiley
Published: 2001-04
Volume: 14
Issue: 2
Pages: 86-93
ISSN: 0893-5785 (ISSN-L)
1600-0749
DOI: 10.1034/j.1600-0749.2001.140203.x
OpenAlex: W2082571338
Cited by: 193
References: 87
Citations by year: 2026: 4 · 2025: 7 · 2024: 8 · 2023: 3 · 2022: 7 · 2021: 8 · 2020: 12 · 2019: 7 · 2018: 4 · 2017: 6 · 2016: 4 · 2015: 7 · 2014: 10 · 2013: 13 · 2012: 7
FWCI: 0.56
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor, 395 d)
Locations: Pigment Cell Research (publishedVersion)
PubMed (publishedVersion)
Funders: National Institutes of Health (5r01ar045496-04)
National Institute of Arthritis and Musculoskeletal and Skin Diseases (R01 AR45496)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › melanin and skin pigmentation
Life Sciences › Biochemistry, Genetics and Molecular Biology › Physiology › Calcium signaling and nucleotide metabolism
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
Keywords: P protein, OCA2, oculocutaneous albinism type 2, melanocytes, hypopigmentation, anion transport, membrane transporters, lysosomes, endosomes
MeSH terms: Animals, Carrier Proteins, Humans, Hydrogen-Ion Concentration, Melanocytes, Membrane Proteins, Pigmentation, Pigmentation Disorders, Prader-Willi Syndrome, Albinism, Oculocutaneous, Angelman Syndrome, Membrane Transport Proteins, Mice

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The Mouse p (pink‐eyed dilution) and Human P Genes, Oculocutaneous Albinism Type 2 (OCA2), and Melanosomal pH

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