Journal Article


Kieran G Meade
Cliona O'Farrelly
Patrick Lonergan
Seán Fair
Alan Lyons
Peter J. Hansen
Andrew Cromie
Paul Flynn
Paul Cormican
Matthew S. McCabe
and 2 others



functional analysis identify agricultural sector bovine fertility fertility sequencing dual approach transcription factor bull fertility dual targeted defensin functionally characterise genes exome sequencing approach genes validate genetic variation

A dual targeted β-defensin and exome sequencing approach to identify, validate and functionally characterise genes associated with bull fertility (2017)

Abstract 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 fertilityrelated 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.
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Full list of authors on original publication

Kieran G Meade, Cliona O'Farrelly, Patrick Lonergan, Seán Fair, Alan Lyons, Peter J. Hansen, Andrew Cromie, Paul Flynn, Paul Cormican, Matthew S. McCabe and 2 others

Experts in our system

Kieran G Meade
Total Publications: 50
Cliona O'Farrelly
Trinity College Dublin
Total Publications: 138
P. Lonergan
University College Dublin
Total Publications: 190
Seán Fair
University of Limerick
Total Publications: 54
Alan Lyons
University of Limerick
Total Publications: 4
A.R. Cromie
Total Publications: 27
Paul Cormican
Total Publications: 44
Matthew S. McCabe
Total Publications: 40