A dual targeted β-defensin and exome sequencing approach to identify, validate and functionally characterise genes associated with bull fertility.

Autor:	Whiston R; Animal & Bioscience Research Department, Animal & Grassland Research and Innovation Centre, Teagasc, Grange, Co. Meath, Ireland., Finlay EK; Animal & Bioscience Research Department, Animal & Grassland Research and Innovation Centre, Teagasc, Grange, Co. Meath, Ireland., McCabe MS; Animal & Bioscience Research Department, Animal & Grassland Research and Innovation Centre, Teagasc, Grange, Co. Meath, Ireland., Cormican P; Animal & Bioscience Research Department, Animal & Grassland Research and Innovation Centre, Teagasc, Grange, Co. Meath, Ireland., Flynn P; Weatherbys Scientific, Johnstown, Naas, Co Kildare, Ireland., Cromie A; Irish Cattle Breeding Federation, Bandon, Co. Cork, Ireland., Hansen PJ; Department of Animal Sciences, University of Florida, Gainesville, Florida, USA., Lyons A; Department of Biological Sciences, University of Limerick, Limerick, Ireland., Fair S; Department of Biological Sciences, University of Limerick, Limerick, Ireland., Lonergan P; School of Agriculture and Food Science, University College Dublin, Belfield, Dublin 4, Ireland., O' Farrelly C; Trinity Biomedical Sciences Institute, Trinity College, Dublin 2, Ireland., Meade KG; Animal & Bioscience Research Department, Animal & Grassland Research and Innovation Centre, Teagasc, Grange, Co. Meath, Ireland. kieran.meade@teagasc.ie.
Jazyk:	angličtina
Zdroj:	Scientific reports [Sci Rep] 2017 Sep 25; Vol. 7 (1), pp. 12287. Date of Electronic Publication: 2017 Sep 25.
DOI:	10.1038/s41598-017-12498-x
Abstrakt:	Bovine fertility remains a critical issue underpinning the sustainability of the agricultural sector. Phenotypic records collected on >7,000 bulls used in artificial insemination (AI) were used to identify 160 reliable and divergently fertile bulls for a dual strategy of targeted sequencing (TS) of fertility-related β-defensin genes and whole exome sequencing (WES). A haplotype spanning multiple β-defensin genes and containing 94 SNPs was significantly associated with fertility and functional analysis confirmed that sperm from bulls possessing the haplotype showed significantly enhanced binding to oviductal epithelium. WES of all exons in the genome in 24 bulls of high and low fertility identified 484 additional SNPs significantly associated with fertility. After validation, the most significantly associated SNP was located in the FOXJ3 gene, a transcription factor which regulates sperm function in mice. This study represents the first comprehensive characterisation of genetic variation in bovine β-defensin genes and functional analysis supports a role for β-defensins in regulating bull sperm function. This first application of WES in AI bulls with divergent fertility phenotypes has identified a novel role for the transcription factor FOXJ3 in the regulation of bull fertility. Validated genetic variants associated with bull fertility could prove useful for improving reproductive outcomes in cattle.
Databáze:	MEDLINE
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