論文

査読有り
2015年10月

Genetic variants in the upstream region of activin receptor IIA are associated with female fertility in Japanese Black cattle

BMC GENETICS
  • Shinji Sasaki
  • ,
  • Takayuki Ibi
  • ,
  • Tamako Matsuhashi
  • ,
  • Kenji Takeda
  • ,
  • Shogo Ikeda
  • ,
  • Mayumi Sugimoto
  • ,
  • Yoshikazu Sugimoto

16
開始ページ
123
終了ページ
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1186/s12863-015-0282-0
出版者・発行元
BMC

Background: Female fertility, a fundamental trait required for animal reproduction, has gradually declined in the last 2 decades in Japanese Black cattle. To identify associated genetic variants in Japanese Black cattle, we evaluated female fertility as a metric to describe the average inverse of the number of artificial inseminations required for conception from the first through the fourth parity (ANAI(4)) and conducted a genome-wide association study (GWAS) using 430 animals with extreme ANAI(4) values from 10,399 animals.Results: We found that 2 variants, namely a single-nucleotide polymorphisms (SNP; g.48476925C > T) and a 3-bp indel (g.48476943_48476946insGGC), in the upstream region of the activin receptor IIA gene (ACVR2A) were associated with ANAI(4). ACVR2A transcripts from Japanese Black cattle of the Q haplotype, defined by the SNP and the 3-bp indel, with increased ANAI(4) were 1.29-1.32-fold more abundant than q-derived transcripts. In agreement, reporter assay results revealed that the activity of the ACVR2A promoter was higher in reporter constructs with the Q haplotype than in those with the q haplotype by approximately 1.2 fold. Expression of exogenous ACVR2A induced dose-dependent increases of reporter activity from the follicle-stimulating hormone, beta polypeptide (FSHB) promoter in response to activin A in a pituitary gonadotrophic cell line. The findings suggested that sequence variations in the upstream region of ACVR2A with the Q haplotype increased ACVR2A transcription, which in turn induced FSHB expression. This association was replicated using a sample population size of 1,433 animals; the frequency of the Q haplotype was 0.39, and Q-to-q haplotype substitution resulted in an increase of 0.02 in terms of ANAI(4).Conclusions: This GWAS identified variants in the upstream region of ACVR2A, which were associated with female fertility in Japanese Black cattle. The variants affected the level of ACVR2A mRNA expression, which could lead to an allelic imbalance. This association was replicated with a sample population of 1,433 animals. Thus, the results suggest that the Q haplotype could serve as a useful marker to select Japanese Black cattle with superior female fertility.

リンク情報
DOI
https://doi.org/10.1186/s12863-015-0282-0
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/26486459
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000363119300001&DestApp=WOS_CPL
ID情報
  • DOI : 10.1186/s12863-015-0282-0
  • ISSN : 1471-2156
  • PubMed ID : 26486459
  • Web of Science ID : WOS:000363119300001

エクスポート
BibTeX RIS