Insertion/deletion polymorphism in the BRCA2 nuclear localization signal.

Yasunaga Yoshikawa; Masami Morimatsu; Kazuhiko Ochiai; Masashi Nagano; Yoshihisa Yamane; Nobuyuki Tomizawa; Nobuo Sasaki; Kazuyoshi Hashizume

doi:10.2220/biomedres.26.109

PubMed · 16011303

Insertion/deletion polymorphism in the BRCA2 nuclear localization signal.

Yasunaga Yoshikawa·Masami Morimatsu·Kazuhiko Ochiai·Masashi Nagano·Yoshihisa Yamane·Nobuyuki Tomizawa·Nobuo Sasaki·Kazuyoshi Hashizume

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Abstract

Mutations in human BRCA2 confer an increased risk of female breast cancer. In this study, we found a novel insertion/deletion polymorphism (10204insAAA causing amino acid change M3332IK) in canine BRCA2, which is located in the putative second nuclear localization signal (NLS2) and C-terminal Rad51-binding region. The nuclear localization of the insAAA C-terminus was more efficient than localization of the delAAA sequence when NLS1 was mutated. Strong, comparable Rad51 binding was observed for both the insAAA and delAAA C-termini. Dogs with the insertion/deletion polymorphism will provide a new model for studying the function of BRCA2.

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Alleles Animals BRCA2 Protein Dogs Gene Frequency Nuclear Localization Signals Polymorphism, Genetic Journal Article Research Support, Non-U.S. Gov't

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Yasunaga Yoshikawa, Masami Morimatsu, Kazuhiko Ochiai, Masashi Nagano, Yoshihisa Yamane, Nobuyuki Tomizawa, Nobuo Sasaki, Kazuyoshi Hashizume. 2005. Insertion/deletion polymorphism in the BRCA2 nuclear localization signal.. https://doi.org/10.2220/biomedres.26.109

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