Open Access Research article

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

Xiang-Peng Yue12, Chad Dechow2, Ti-Cheng Chang24, James Melton DeJarnette3, Clifton Eugene Marshall3, Chu-Zhao Lei1* and Wan-Sheng Liu2*

Author Affiliations

1 College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi 712100, China

2 Department of Animal Science, The Center for Reproductive Biology and Health (CRBH), College of Agricultural Sciences, The Pennsylvania State University, University Park, Pennsylvania, PA 16802, USA

3 Select Sires Inc, Plain City, OH 43064, USA

4 Current address: Department of Plant Pathology, University of California Davis, Davis 95616, USA

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BMC Genomics 2014, 15:113  doi:10.1186/1471-2164-15-113

Published: 8 February 2014



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.


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.


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.

CNVs; HSFY; ZNF280BY; Male fertility; Testis size; Sire conception rate; Cattle