Molecular characterization of the porcine testis-specificphosphoglycerate kinase 2 (PGK2) gene and its association with male fertility

Abstract

We have isolated and characterized the porcine testis-specific phosphoglycerate kinase 2 (PGK2) gene, and 1665 bp of full-length PGK2 cDNA were also compiled using modified rapid amplification 5'-RACE and 3'-RACE information. The results of genomic and cDNA sequences of the porcine PGK2 gene demonstrated that it is a single-exon intronless gene with a complete open reading frame of 1251 bp encoding a PGK protein of 417 amino acids. Real-time quantitative PCR results showed that PGK2 mRNA was solely expressed in the testis. There was a lower amount of PGK2 expression in the testis of a 10-month-old herniated boar and a very small amount of PGK2 expression in the testis of an 8-week-old cryptorchid piglet compared to an adult boar. Two SNPs in the PGK2 gene (SNP-A: T427C; SNP-B: C914A) resulting in amino acid substitutions (SNP-A: Ser102-Pro102; SNP-B: Thr264-Lys264) were detected and genotyped among six pig breeds. The nucleotide C at SNP-A responsible for the amino acid exchange to proline could lead to the loss of a casein kinase II (CK2) phosphorylation site in the PGK2 peptide. Association analyses between PGK2 genotypes and several traits of sperm quantity and quality were performed. The results showed that SNP-B has a positive significant effect on semen volume in the breed Pietrain (p = 0.08), i.e., boars carrying genotype CC revealed an increased volume of 49 ml compared with boars having the genotype AA.

Evolutionarily Conserved Mammalian Adenine Nucleotide Translocase 4 Is Essential for Spermatogenesis

“…Multiple autosomal retrogenes of X chromosome origin have been reported as candidates potentially compensating for the absence of essential sexlinked gene expression during male meiosis, as exemplified by the Pgk1/Pgk2 gene family (47)(48)(49)(50). Although such retrogenes are considered to positively support male meiosis, there has been only one report so far (Utp14b) to clearly demonstrate the absolute necessity of such retrogenes in male meiosis (51,52).…”

Exploiting RNA-sequencing data from the porcine testes to identify the key genes involved in spermatogenesis in Large White pigs

“…A single-SNP genomewide association study detected six significant SNPs on SSC1 (position 117.26-119.56Mb) in animals from a Large White-based pig population (Diniz et al, 2014). Candidate gene approach was also used to identify the genetic markers for semen quality, such as deleted in azoospermialike (DAZL) (Ma et al, 2013) and phosphoglycerate kinase 2 (PGK2) gene (Chen et al, 2004). Presently, RNA-Seq provided an efficient means to identify 19,996 and 15,964 genetic variations in the expressed portion of the genome from testes of 60-d and 180-d pigs compared with the reference genome, respectively.…”

Association of Single Nucleotide Polymorphism (SNP) in the PGK 2 Gene with Growth Traits in Pigs

“…또한 Chen (2004) 등에 의하면 정소상체에서 정자의 대사를 조절하는 것으로 알려져 있으며, 해당과정 경로의 동질효소로서 정자의 운동성을 위한 ATP의 요구를 제공하여 수컷 의 생식능력에도 관여하는 것으로 알려져 있다 최근에 PGK 유전 자는 이황화 환원효소로서 혈관형성 과정에서 종양의 확장과 전이 에 중대한 영향을 미치는 것으로 보고된 바 있다 (Lay 등, 2000). 또한 효모를 포함한 모든 진핵 생물 효소의 기능적인 측면에서 높 은 보존력에 관여한다는 보고가 있다 (Mas 등, 1986).…”