title: Insertion/deletion polymorphism in the BRCA2 nuclear localization signal.
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.
authors: Department of Veterinary Medicine, Faculty of Agriculture, Iwate University, Morioka 020-8550, Japan.
authors: Yasunaga
authors: Y
authors: Yoshikawa
authors: Masami
authors: M
authors: Morimatsu
authors: Kazuhiko
authors: K
authors: Ochiai
authors: Masashi
authors: M
authors: Nagano
authors: Yoshihisa
authors: Y
authors: Yamane
authors: Nobuyuki
authors: N
authors: Tomizawa
authors: Nobuo
authors: N
authors: Sasaki
authors: Kazuyoshi
authors: K
authors: Hashizume
mesh_terms: D000483:Alleles; D000818:Animals; D024682:BRCA2 Protein / Q000235:genetics* / Q000378:metabolism; D004285:Dogs; D005787:Gene Frequency; D019913:Nuclear Localization Signals / Q000235:genetics* / Q000378:metabolism; D011110:Polymorphism, Genetic
chemical_list: D024682:BRCA2 Protein; D019913:Nuclear Localization Signals