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Int. J. Mol. Sci. 2015, 16(11), 26530-26542; doi:10.3390/ijms161125976

Validation of PDE9A Gene Identified in GWAS Showing Strong Association with Milk Production Traits in Chinese Holstein

College of Animal Science and Technology, Key Laboratory of Animal Genetics and Breeding of Ministry of Agriculture, National Engineering Laboratory of Animal Breeding, China Agricultural University, Beijing 100193, China
These authors contributed equally to this work.
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Academic Editor: Emil Alexov
Received: 17 June 2015 / Revised: 24 July 2015 / Accepted: 18 August 2015 / Published: 5 November 2015
(This article belongs to the Section Biochemistry, Molecular and Cellular Biology)
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Abstract

Phosphodiesterase9A (PDE9A) is a cyclic guanosine monophosphate (cGMP)-specific enzyme widely expressed among the tissues, which is important in activating cGMP-dependent signaling pathways. In our previous genome-wide association study, a single nucleotide polymorphism (SNP) (BTA-55340-no-rsb) located in the intron 14 of PDE9A, was found to be significantly associated with protein yield. In addition, we found that PDE9A was highly expressed in mammary gland by analyzing its mRNA expression in different tissues. The objectives of this study were to identify genetic polymorphisms of PDE9A and to determine the effects of these variants on milk production traits in dairy cattle. DNA sequencing identified 11 single nucleotide polymorphisms (SNPs) and six SNPs in 5′ regulatory region were genotyped to test for the subsequent association analyses. After Bonferroni correction for multiple testing, all these identified SNPs were statistically significant for one or more milk production traits (p < 0.0001~0.0077). Interestingly, haplotype-based association analysis revealed similar effects on milk production traits (p < 0.01). In follow-up RNA expression analyses, two SNPs (c.-1376 G>A, c.-724 A>G) were involved in the regulation of gene expression. Consequently, our findings provide confirmatory evidences for associations of PDE9A variants with milk production traits and these identified SNPs may serve as genetic markers to accelerate Chinese Holstein breeding program. View Full-Text
Keywords: dairy cattle; PDE9A; milk production traits; association analysis; GWAS; gene expression dairy cattle; PDE9A; milk production traits; association analysis; GWAS; gene expression
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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Yang, S.-H.; Bi, X.-J.; Xie, Y.; Li, C.; Zhang, S.-L.; Zhang, Q.; Sun, D.-X. Validation of PDE9A Gene Identified in GWAS Showing Strong Association with Milk Production Traits in Chinese Holstein. Int. J. Mol. Sci. 2015, 16, 26530-26542.

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