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

@article{Yuasa2007OCA2481ThrAH,
  title={OCA2*481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations},
  author={Isao Yuasa and Kazuo Umetsu and Shinji Harihara and Aya Miyoshi and Naruya Saitou and Kyungsook Park and Bumbein Dashnyam and Feng Jin and G. Lucotte and Prasanta Kumar Chattopadhyay and Lotte Henke and J{\"u}rgen Henke},
  journal={Journal of Human Genetics},
  year={2007},
  volume={52},
  pages={690-693}
}
AbstractAsians 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… CONTINUE READING

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References

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Showing 1-10 of 27 references

High frequency of the Ala481Thr mutation of the P gene in the Japanese population.

American journal of medical genetics. Part A • 2003
View 4 Excerpts
Highly Influenced

Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients.

The Journal of investigative dermatology • 2003
View 5 Excerpts
Highly Influenced

Skin cancer screening in Okinawa, Japan.

Journal of dermatological science • 1999
View 2 Excerpts
Highly Influenced

Prevalence of actinic keratosis in Japan.

Journal of dermatological science • 1997
View 2 Excerpts
Highly Influenced

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