Abstract
Simple SummaryPPP3CA is one of the candidate genes for goat reproduction, but no studies have been carried out yet. Therefore, the purpose of this study was to determine the associations between copy number variations in the goat PPP3CA gene and litter size and semen quality in goats, including Shaanbei white cashmere goats (SBWC) (n = 353) and Guizhou Heima (GZHM) goats (n = 64). Based on the association analysis, the results showed that only CNV1 (copy number variation 1) and CNV2 (copy number variation 2) were distinctly related to the first-birth litter size in female goats (p = 7.6802 × 10−11; p = 5.0895 × 10−9), and they were also significantly associated with the semen quality of SBWC goats (p < 0.05). These findings prove that the PPP3CA gene plays an important role in reproduction traits in goats.Copy number variations (CNVs) have many forms of variation structure, and they play an important role in the research of variety diversity, biological evolution and disease correlation. Since CNVs have a greater impact on gene regulation and expression, more studies are being finalized on CNVs in important livestock and poultry species. The protein phosphatase 3 catalytic subunit alpha (PPP3CA) is a key candidate gene involved in the goat fecundity trait, and has important effects on precocious puberty, estrogen signal transduction pathways and oocyte meiosis. Additionally, PPP3CA also has a dephosphorylation effect in the process of spermatogonial stem cell meiosis and spermatogenesis. So far, there is no research on the relationship between the copy number variations of the PPP3CA gene and reproduction traits. Therefore, the purpose of this study was to determine the association between copy number variations in the goat PPP3CA gene and litter size and semen quality in Shaanbei white cashmere goats (SBWC) (n = 353) and Guizhou Heima goats (n = 64). Based on the association analysis, the results showed that only CNV1 and CNV2 within the PPP3CA gene were distinctly related to the first-birth litter size in female goats (p = 7.6802 × 10−11; p = 5.0895 × 10−9, respectively) and they were also significantly associated with the semen quality of SBWC goats (p < 0.05). In addition, individuals with Loss genotypes demonstrated better phenotypic performance compared to those with other types. Therefore, CNV1 and CNV2 of the PPP3CA gene are potentially useful for breeding, as they are linked to important goat reproduction traits.
Highlights
Located on chromosome 6, the protein phosphatase 3 catalytic subunit alpha (PPP3CA), was first discovered in brain tissue in 1979, and has a variety of biological functions [1]
A whole-genome selective scanning analysis in 31 Dazu black goats found that the PPP3CA gene was annotated to reproduction-related pathways [7], which had an important influence on the estrogen signal transduction pathway and oocyte meiosis [6]
We found that among the three Copy number variations (CNVs), CNV1 and CNV2 were significantly associated with first-born litter size (p < 0.01)
Summary
Located on chromosome 6, the protein phosphatase 3 catalytic subunit alpha (PPP3CA), was first discovered in brain tissue in 1979, and has a variety of biological functions [1]. PPP3CA was suggested to be a key candidate gene involved in livestock animals’ reproductive traits [5]. Dias et al (2015) found that the PPP3CA gene had a crucial effect on precocious puberty [6]. A whole-genome selective scanning analysis in 31 Dazu black goats found that the PPP3CA gene was annotated to reproduction-related pathways [7], which had an important influence on the estrogen signal transduction pathway and oocyte meiosis [6]. Wan et al (2014) found that the PPP3CA gene played a key role in the control of skeletal muscle fibers, and that it was expressed in various muscle tissues [8]
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