Title |
Maternal variant in the upstream of FOXP3 gene on the X chromosome is associated with recurrent infertility in Japanese Black cattle
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Published in |
BMC Genomic Data, December 2017
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DOI | 10.1186/s12863-017-0573-8 |
Pubmed ID | |
Authors |
Taichi Arishima, Shinji Sasaki, Tomohiro Isobe, Yoshihisa Ikebata, Shinichi Shimbara, Shogo Ikeda, Keisuke Kawashima, Yutaka Suzuki, Manabu Watanabe, Sumio Sugano, Kazunori Mizoshita, Yoshikazu Sugimoto |
Abstract |
Repeat breeding, which is defined as cattle failure to conceive after three or more inseminations in the absence of clinical abnormalities, is a substantial problem in cattle breeding. To identify maternal genetic variants of repeat breeding in Japanese Black cattle, we selected 29 repeat-breeding heifers that failed to conceive following embryo transfer (ET) and conducted a genome-wide association study (GWAS) using the traits. We found that a single-nucleotide polymorphism (SNP; g.92,377,635A > G) in the upstream region of the FOXP3 gene on the X chromosome was highly associated with repeat breeding and failure to conceive following ET (P = 1.51 × 10-14). FOXP3 is a master gene for differentiation of regulatory T (Treg) cells that function in pregnancy maintenance. Reporter assay results revealed that the activity of the FOXP3 promoter was lower in reporter constructs with the risk-allele than in those with the non-risk-allele by approximately 0.68 fold. These findings suggest that the variant in the upstream region of FOXP3 with the risk-allele decreased FOXP3 transcription, which in turn, could reduce the number of maternal Treg cells and lead to infertility. The frequency of the risk-allele in repeat-breeding heifers is more than that in cows, suggesting that the risk-allele could be associated with infertility in repeat-breeding heifers. This GWAS identified a maternal variant in the upstream region of FOXP3 that was associated with infertility in repeat-breeding Japanese Black cattle that failed to conceive using ET. The variant affected the level of FOXP3 mRNA expression. Thus, the results suggest that the risk-allele could serve as a useful marker to reduce and eliminate animals with inferior fertility in Japanese Black cattle. |
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Scientists | 1 | 50% |
Members of the public | 1 | 50% |
Mendeley readers
Geographical breakdown
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Unknown | 24 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 4 | 17% |
Student > Bachelor | 3 | 13% |
Researcher | 3 | 13% |
Lecturer | 2 | 8% |
Professor | 1 | 4% |
Other | 2 | 8% |
Unknown | 9 | 38% |
Readers by discipline | Count | As % |
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Veterinary Science and Veterinary Medicine | 2 | 8% |
Biochemistry, Genetics and Molecular Biology | 1 | 4% |
Mathematics | 1 | 4% |
Immunology and Microbiology | 1 | 4% |
Other | 2 | 8% |
Unknown | 10 | 42% |