A nonsense nucleotide substitution in the oculocutaneous albinism II gene underlies the original pink-eyed dilution allele (<i>Oca2<sup>p</sup></i>) in mice-Reference-Cited by-同舟云学术

A nonsense nucleotide substitution in the oculocutaneous albinism II gene underlies the original pink-eyed dilution allele (Oca2^p) in mice

Published:2015 Issue:2 Volume:64 Page:171-179
ISSN:1341-1357
Container-title:Experimental Animals
language:en
Short-container-title:Exp. Anim.

Author:

SHOJI Haruka¹,KINIWA Yukiko²,OKUYAMA Ryuhei²,YANG Mu¹,HIGUCHI Keiichi³¹,MORI Masayuki⁴

Affiliation:

1. Department of Aging Biology, Institute of Pathogenesis and Disease Prevention, Shinshu University Graduate School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan

2. Department of Dermatology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan

3. Department of Biological Sciences for Intractable Neurological Diseases, Institute for Biomedical Sciences, Interdisciplinary Cluster for Cutting Edge Research, Shinshu University 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan

4. Department of Advanced Medicine for Health Promotion, Institute for Biomedical Sciences, Interdisciplinary Cluster for Cutting Edge Research, Shinshu University, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan

Publisher

Japanese Association for Laboratory Animal Science

Subject

General Veterinary,General Biochemistry, Genetics and Molecular Biology,Animal Science and Zoology,General Medicine

Link

https://www.jstage.jst.go.jp/article/expanim/64/2/64_14-0075/_pdf

Reference19 articles.

1. 1. Brilliant M.H. 2001. The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH. Pigment. Cell Res. 14: 86–93.

2. 2. Brilliant M.H., Ching A., Nakatsu Y., and Eicher E.M. 1994. The original pink-eyed dilution mutation (p) arose in Asiatic mice: implications for the H4 minor histocompatibility antigen, Myod1 regulation and the origin of inbred strains. Genetics 138: 203–211.

3. 3. Chen K., Manga P., and Orlow S.J. 2002. Pink-eyed dilution protein controls the processing of tyrosinase. Mol. Biol. Cell 13: 1953–1964.

4. 4. Durham-Pierre D., Gardner J.M., Nakatsu Y., King R.A., Francke U., Ching A., Aquaron R., del Marmol V., and Brilliant M.H. 1994. African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism. Nat. Genet. 7: 176–179.

5. 5. Gardner J.M., Nakatsu Y., Gondo Y., Lee S., Lyon M.F., King R.A., and Brilliant M.H. 1992. The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes. Science 257: 1121–1124.

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