Journal of Human Genetics

, Volume 52, Issue 8, pp 690–693 | Cite as

OCA2*481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations

  • Isao Yuasa
  • Kazuo Umetsu
  • Shinji Harihara
  • Aya Miyoshi
  • Naruya Saitou
  • Kyung Sook Park
  • Bumbein Dashnyam
  • Feng Jin
  • Gérard Lucotte
  • Prasanta K. Chattopadhyay
  • Lotte Henke
  • Jürgen Henke
Short Communication

Abstract

Asians as well as Europeans have light skin, for which no genes to date are known to be responsible. A mutation, Ala481Thr (c.G1559A), in the oculocutaneous albinism type II (OCA2) gene has approximately 70% function of the wild type allele in melanogenesis. In this study, the distribution of the mutation was investigated in a total of 2,615 individuals in 20 populations from various areas. OCA2*481Thr prevailed almost exclusively in a northeastern part of Asia. The allele frequency was highest in Buryat (0.24) in Mongolia and showed a north–south downward geographical gradient. These findings suggest that OCA2*481Thr arose in a region of low ultraviolet radiation and thereafter spread to neighboring populations.

Keywords

OCA2 Pigmentation Polymorphism Population study Skin color 

References

  1. Duffy DL, Montgomery GW, Chen W, Zhao ZZ, Le L, James MR, Hayward NK, Martin NG, Sturm RA (2007) A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation. Am J Hum Genet 80:241–252PubMedCrossRefGoogle Scholar
  2. Excoffier L, Laval G, Schneider S (2005) Arlequin ver 3.0: an integrated software package for population genetics data analysis. Evol Bioinf Online 1:47–50Google Scholar
  3. Graw J, Klopp N, Illig T, Preising MN, Lorenz B (2006) Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P. Graefes Arch Clin Exp Ophthalmol 244:912–919PubMedCrossRefGoogle Scholar
  4. Hammer MF, Karafet TM, Park H, Omoto K, Harihara S, Stoneking M, Horai S (2006) Dual origins of the Japanese: common ground for hunter-gatherer and farmer Y chromosomes. J Hum Genet 51:47–58PubMedCrossRefGoogle Scholar
  5. Ito S, Suzuki T, Inagaki K, Suzuki N, Kono M, Tomita Y, Iwamoto T, Mochizuki N (2006) Two novel mutations detected in Japanese patients with oculocutaneous albinism. J Dermatol Sci 44:116–118PubMedCrossRefGoogle Scholar
  6. Izagirre N, García I, Junquera C, de la Rúa C, Alonso S (2006) A scan for signature of positive selection in candidate loci for skin pigmentation in humans. Mol Biol Evol 23:1697–1706PubMedCrossRefGoogle Scholar
  7. Jablonski NG, Chaplin G (2000) The evolution of skin coloration. J Hum Evol 39:57–106PubMedCrossRefGoogle Scholar
  8. Kato A, Fukai K, Oiso N, Hosomi N, Saitoh S, Wada T, Shimizu H, Ishii M (2003) A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2). J Dermatol Sci 31:189–192PubMedCrossRefGoogle Scholar
  9. Kawai M, Suzuki T, Ito S, Inagaki K, Suzuki N, Tomita Y (2005) A patient with subclinical oculocutaneous albinism type 2 diagnosed on getting severely sunburned. Dermatology 210:322–323PubMedCrossRefGoogle Scholar
  10. Lao O, de Gruijter JM, van Duijn K, Navarro A, Kayser M (2007) Signatures of positive selection in genes associated with human skin pigmentation as revealed from analyses of single nucleotide polymorphisms. Ann Hum Genet 71:354–369PubMedCrossRefGoogle Scholar
  11. Lee S-T, Nicholls RD, Bundey S, Laxova R, Musarella M, Spritz RA (1994) Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader–Willi syndrome plus albinism. N Engl J Med 330:529–534PubMedCrossRefGoogle Scholar
  12. Lee S-T, Nicholls RD, Jong MTC, Fukai K, Spritz AS (1995) Organization and sequence of the human P gene and identification of a new family of transport proteins. Genomics 26:354–363PubMedCrossRefGoogle Scholar
  13. McEvoy B, Beleza S, Shriver MD (2006) The genetic architecture of normal variation in human pigmentation: an evolutionary perspective and model. Hum Mol Genet 15:R176–R181PubMedCrossRefGoogle Scholar
  14. Myles S, Somel M, Tang K, Kelso J, Stoneking M (2007) Identifying genes underlying skin pigmentation differences among human populations. Hum Genet 120:613–621PubMedCrossRefGoogle Scholar
  15. Nagano T, Ueda M, Suzuki T, Naruse K, Nakamura T, Taguchi M, Araki K, Nakagawa K, Nagai H, Hayashi K, Watanabe S, Ichihashi M (1999) Skin cancer screening in Okinawa, Japan. J Dermatol Sci 19:161–165PubMedCrossRefGoogle Scholar
  16. Naruse K, Ueda M, Nagano T, Suzuki T, Harada S, Imaizumi K, Watanabe S, Ichihashi M (1997) Prevalence of actinic keratosis in Japan. J Dermatol Sci 15:183–187PubMedCrossRefGoogle Scholar
  17. Norton HL, Kittles RA, Parra E, McKeigue P, Mao X, Cheng K, Canfield VA, Bradley DG, McEvoy B, Shriver MD (2007) Genetic evidence for the convergent evolution of light skin in Europeans and East asians. Mol Biol Evol 24:710–722PubMedCrossRefGoogle Scholar
  18. Oetting WS, Garrett SS, Brott M, King RA (2005) P genemutations associated with oculocutaneous albinism type II (OCA2). Hum Mutat 25:323PubMedCrossRefGoogle Scholar
  19. Puri N, Gardner JM, Brilliant MH (2000) Aberrant pH of melanosomes in pink-eyed dilution (p) mutant melanocytes. J Invest Dermatol 115:607–613PubMedCrossRefGoogle Scholar
  20. Saitoh S, Oiso N, Wada T, Narazaki O, Fukai K (2000) Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome. J Med Genet 37:392–394PubMedCrossRefGoogle Scholar
  21. Satoh Y, Kawada A (1986) Action spectrum for melanin pigmentation to ultraviolet light, and Japanese skin typing. In: Fitzpatrick TB et al. (eds) Brown melanoderma. Biology and disease of epidermal pigmentation. University of Tokyo Press, Tokyo, pp 87–95Google Scholar
  22. Sturm RA (2006) A golden age of human pigmentation genetics. Trends Genet 22:464–468PubMedCrossRefGoogle Scholar
  23. Suzuki T, Miyamura Y, Matsunaga J, Shimizu H, Kawachi Y, Ohyama N, Ishikawa O, Ishikawa T, Terao H, Tomita Y (2003a) Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients. J Invest Dermatol 120:781–783PubMedCrossRefGoogle Scholar
  24. Suzuki T, Miyamura Y, Tomita Y (2003b) High frequency of the Ala481Thr mutation of the P gene in the Japanese population. Am J Med Genet 118A:402–403CrossRefGoogle Scholar
  25. Sviderskaya EV, Bennett DC, Ho L, Bailin T, Lee ST, Spritsz RA (1997) Complementation of hypopigmentation in p-mutant (pink-eyed dilution) mouse melanocytes by normal human P cDNA, and defective complementation by OCA2 mutant sequences. J Invest Dermatol 108:30–34PubMedCrossRefGoogle Scholar
  26. Watanabe G, Umetsu K, Yuasa I, Suzuki T (1997) Amplified product length polymorphism (APLP): a novel strategy for genotyping the ABO blood group. Hum Genet 99:34–37PubMedCrossRefGoogle Scholar
  27. Xue Y, Zerjal T, Bao W, Zhu S, Shu Q, Xu J, Du R, Fu S, Li P, Hurles ME, Yang H, Tyler-Smith C (2006) Male demography in East Asia: a north–south contrast in human population expansion times. Genetics 172:2431–2439PubMedCrossRefGoogle Scholar

Copyright information

© The Japan Society of Human Genetics and Springer 2007

Authors and Affiliations

  • Isao Yuasa
    • 1
  • Kazuo Umetsu
    • 2
  • Shinji Harihara
    • 3
  • Aya Miyoshi
    • 4
  • Naruya Saitou
    • 5
  • Kyung Sook Park
    • 6
  • Bumbein Dashnyam
    • 7
  • Feng Jin
    • 8
  • Gérard Lucotte
    • 9
  • Prasanta K. Chattopadhyay
    • 10
  • Lotte Henke
    • 11
  • Jürgen Henke
    • 11
  1. 1.Division of Legal Medicine, Faculty of MedicineTottori UniversityYonagoJapan
  2. 2.Department of Experimental and Forensic Pathology, Faculty of MedicineYamagata UniversityYamagataJapan
  3. 3.Department of Biological Sciences, Graduate School of ScienceUniversity of TokyoTokyoJapan
  4. 4.Department of Forensic MedicineFukuoka University School of MedicineFukuokaJapan
  5. 5.Division of Population GeneticsNational Institute of GeneticsMishimaJapan
  6. 6.Department of BiologySungshin Women’s UniversitySeoulSouth Korea
  7. 7.Institute of Biological SciencesMongolian Academy of SciencesUlaan BaatorMongolia
  8. 8.Institute of Genetics and Developmental BiologyChinese Academy of SciencesBeijingChina
  9. 9.Center of Molecular NeurogeneticsParisFrance
  10. 10.Amity Institute of Forensic SciencesNew DelhiIndia
  11. 11.Institut für BlutgruppenforschungCologneGermany

Personalised recommendations