Comparative genomics between fly, mouse, and cattle identifies genes associated with sire conception rate

Abstract

The decline in reproductive performance in cattle is of major concern to farmers and the dairy industry worldwide. Most fertility studies in cattle have focused on fertility of the cow, whereas the genetics of male fertility have not been thoroughly investigated. The present study hypothesizes that the high conservation of spermatogenesis genes from fly to human implies important roles of these genes in male fertility in cattle. To test this hypothesis, we performed an association analysis between highly conserved spermatogenesis genes and sire conception rate (SCR) in US Holsteins as a measure of bull fertility. Sequencing analysis revealed 24 single nucleotide polymorphisms (SNP) in 9 genes in the bull population using the pooled DNA sequencing approach. Five SNP previously identified in 5 genes from the POU1F1 pathway were also included in this study because they have shown significant associations with female and male fertility traits. Overall, 29 SNP located in 14 candidate genes were tested for association with sire conception rate in a population of 1,988 bulls. Three SNP located in MAP1B and 1 SNP in PPP1R11 showed significant associations with SCR. For the POU1F1 pathway, single gene analysis revealed significant associations of POU1F1 and STAT5A with SCR. Analysis of genotypic interactions between adjacent genes in the pathway revealed significant associations of STAT5A and UTMP genotypic combinations with SCR. The most significant spermatogenesis gene, MAP1B, was found to be associated with fertilization and blastocyst rates. Thus, the association of these genes with bull fertility testifies to the usefulness of the comparative genomics approach in selecting candidate male fertility genes.

Exploration of genetic polymorphism in targeted region of Protein Phosphatase 1 Regulatory subunit 11 (PPP1R11) in Murrah bulls

“…However, results of present study are compared with the available sporadic reports in cattle. Li et al (2012) reported the association between spermatogenesis genes including PPP1R11 and sire conception rate (SCR) in US Holstein as a measure of bull fertility. Four SNPs were reported in PPP1R11 gene in which 3 were located in intronic region while 1 SNP located in 5'UTR (untranslated region).…”

“…PPP1R11 gene is one of the important fertility related gene which was found to be associated with the sire conception rate (Li et al, 2012;Khatib, 2015). This gene encodes a specific inhibitor of protein phosphatase-1 (PP1) with a differential sensitivity towards the metal-independent and metal-dependent forms of PP1.…”

Avaliações seminais e novas ferramentas genômicas na estimação da fertilidade em touros

“…Abordagens genômicas comparativas que identificam genes expressos nos testículos têm caracterizado genes com importantes funções na regulação do desenvolvimento espermático em diferentes espécies (murinos, insetos, humanos e bovinos principalmente) [84,85].…”

Unravelling the genomic architecture of bull fertility in Holstein cattle

“…Both candidate gene [14–16] and whole-genome scan [17–21] approaches have attempted to identify genomic regions and individual genes responsible for the genetic variation in bull fertility. For instance, two highly conserved spermatogenesis genes, MAP1B and PPP1R11 , were significantly associated with male fertility in Holsteins [16].…”