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タイトル: An Approach to Elucidate NBS1 Function in DNA Repair Using Frequent Nonsynonymous Polymorphism in Wild Medaka (Oryzias latipes) Populations
著者: Igarashi, Kento
Kobayashi, Junya  kyouindb  KAKEN_id
Katsumura, Takafumi
Urushihara, Yusuke
Hida, Kyohei
Watanabe-Asaka, Tomomi
Oota, Hiroki
Oda, Shoji
Mitani, Hiroshi
著者名の別形: 小林, 純也
発行日: 20-Jan-2017
出版者: Public Library of Science
誌名: PLOS ONE
巻: 12
号: 1
論文番号: e0170006
抄録: Nbs1 is one of the genes responsible for Nijmegen breakage syndrome, which is marked with high radiosensitivity. In human NBS1 (hNBS1), Q185E polymorphism is known as the factor to cancer risks, although its DSB repair defect has not been addressed. Here we investigated the genetic variations in medaka (Oryzias latipes) wild populations, and found 40 nonsynonymous single nucleotide polymorphisms (SNPs) in medaka nbs1 (olnbs1) gene within 5 inbred strains. A mutation to histidine in Q170 residue in olNbs1, which corresponds to Q185 residue of hNBS1, was widely distributed in the closed colonies derived from the eastern Korean population of medaka. Overexpression of H170 type olNbs1 in medaka cultured cell lines resulted in the increased accumulation of olNbs1 at laser-induced DSB sites. Autophosphorylation of DNA-dependent protein kinase at T2609 was suppressed after the γ-ray irradiation, which was followed by prolonged formation of γ-H2AX foci and delayed DSB repair. These findings suggested that the nonsynonymous SNP (Q170H) in olnbs1, which induced DSB repair defects, is specifically distributed in the eastern Korean population of medaka. Furthermore, examination using the variation within wild populations might provide a novel method to characterize a driving force to spread the disease risk alleles.
著作権等: © 2017 Igarashi et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
URI: http://hdl.handle.net/2433/218483
DOI(出版社版): 10.1371/journal.pone.0170006
PubMed ID: 28107384
出現コレクション:学術雑誌掲載論文等

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