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Background  Recent transcriptomic analysis of the bovine Y chromosome revealed at least six multi-copy protein coding gene families, including  TSPY, HSFY  and  ZNF280BY , on the male-specific region (MSY). Previous studies indicated that the copy number variations (CNVs) of the human and bovine  TSPY  were associated with male fertility in men and cattle. However, the relationship between CNVs of the bovine Y-linked  HSFY  and  ZNF280BY  gene families and bull fertility has not been investigated.    Results  We investigated the copy number (CN) of the bovine  HSFY  and  ZNF280BY  in a total of 460 bulls from 15 breeds using a quantitative PCR approach. We observed CNVs for both gene families within and between cattle breeds. The median copy number (MCN) of  HSFY  among all bulls was 197, ranging from 21 to 308. The MCN of  ZNF280BY  was 236, varying from 28 to 380. Furthermore, bulls in the  Bos taurus  (BTA) lineage had a significantly higher MCN (202) of  HSFY  than bulls in the  Bos indicus  (BIN) lineage (178), while taurine bulls had a significantly lower MCN (231) of  ZNF280BY  than indicine bulls (284). In addition, the CN of  ZNF280BY  was positively correlated to that of  HSFY  on the BTAY. Association analysis revealed that the CNVs of both  HSFY  and  ZNF280BY  were correlated negatively with testis size, while positively with sire conception rate.    Conclusion  The bovine  HSFY  and  ZNF280BY  gene families have extensively expanded on the Y chromosome during evolution. The CN of both gene families varies significantly among individuals and cattle breeds. These variations were associated with testis size and bull fertility in Holstein, suggesting that the CNVs of  HSFY  and  ZNF280BY  may serve as valuable makers for male fertility selection in cattle.

bmc genomics

Copy number variations of the extensively amplified Y-linked genes, HSFY and ZNF280BY, in cattle and their association with male reproductive traits in Holstein bulls