A novel synonymous SNP (A47A) of the <i>TMEM95</i> gene is significantly associated with the reproductive traits related to testis in male piglets

Abstract

Abstract. Transmembrane protein 95 (TMEM95) is located on the acrosomal membrane of the sperm head involved in the acrosome reaction; thus, it is regarded as affecting spermatogenesis and reproduction traits. The aim of this study was to explore the novel single nucleotide polymorphisms (SNPs) within the pig TMEM95 gene as well as to evaluate their associations with the testicular sizes in male Landrace (LD) and Large White (LW) breeds. After pool sequencing and bioinformatics analysis, only one novel coding SNP was found in exon 1, namely NC_010454.3: g.341T > C, resulting in a synonymous mutation (A47A). This SNP could be genotyped using the StuI polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. The minor allelic frequencies (MAFs) were 0.259 and 0.480 in the LD and LW breeds. Their polymorphism information content (PIC) values were 0.310 and 0.375. The LW population was at the Hardy-Weinberg equilibrium (HWE) (p > 0.05), whereas the LD population was not (p < 0.05). Association analyses demonstrated that a significant relationship was found between this A47A polymorphism and testis weight at 40 days of age in the LW population (p = 0.047), and the heterozygote individuals showed lower testis weight than those with other genotypes. Moreover, this SNP was significantly associated with three testis measurement traits at 15 days of age in the LW population (p < 0.05); the individuals with genotypes TT and TC showed consistently superior testis measurement traits than those with genotype CC. These findings demonstrate that the A47A polymorphism had a significant effect on testis measurement traits, suggesting that the TMEM95 gene could be a candidate gene associated with reproductive traits. These results could contribute to breeding and genetics programs in the pig industry via DNA marker-assisted selection (MAS).

Gene Polymorphisms in Boar Spermatozoa and Their Associations with Post-Thaw Semen Quality

“…We suggest that the 3'-UTR SNPs, detected in this study, might play a significant role at the transcription level. Furthermore, most of the coding sequences detected in spermatozoa were synonymous variants, which do not affect protein sequence, but could be in linkage disequilibrium to other causative mutations [7,12] and could have functional effects on mRNA stability and, ultimately, the phenotype traits [20]. In the present study, eight SNP markers that showed significant associations with post-thaw semen quality were synonymous variants (in CYP7B1, FBXO16, RAB3C, SARS, MAP3K20, PLBD1, EML5, and PROCKLE1 genes), which could be linked to causative mutations with functional effects on the reproductive traits in the pig.…”

The Role of Sperm Proteins IZUMO1 and TMEM95 in Mammalian Fertilization: A Systematic Review

“…Studies on the proteins involved in fertilization have been performed in a variety of species ( Figure 3 ). TMEM95 research has focused on domestic animals, such as bovines [ 31 ] and boars [ 32 ], due to the great interest generated by their breeding. Regarding research on IZUMO1, because of its positive correlation with fertility, has focused on humans [ 33 ] and mouse [ 34 ] models.…”

“…The results showed that eight articles studied TMEM95 ( Table 1 ). The main objectives of these articles were to molecularly characterize TMEM95 [ 20 , 22 , 31 , 35 ] or to determine the cause or effect of a certain mutation, including nonsense mutations [ 23 , 24 ], synonymous mutations [ 32 ] and insertion/deletion mutations [ 36 ].…”

Molekulargenetische Analysen fortpflanzungsrelevanter Fragestellungen beim landwirtschaftlichen Nutztier

“…Da diese Faktoren nicht immer steuerbar sind, wird eine genetische Verbesserung der Tiere immer wichtiger, um die Reproduktionsleistung zu gewährleisten und zu erhalten (Beerda et al, 2008). Bis heute wurden beim Schwein zahlreiche tionsleistung von Ebern beeinflussen, vor (Liu et al, 2017).…”

“…der Reproduktion landwirtschaftlicher Nutztiere stehen (Lenffer et al, 2006;Fischer et al, 2015). Es sind jedoch nur wenige Informationen über die Kandidatengene verfügbar, die die Reproduktionsmerkmale von Ebern beeinflussen (Liu et al, 2017). Die Ergebnisse der vorliegenden Studie zeigen, dass das porzine DNAL4-Gen als Kandidatengen für die Spermaqualität angenommen werden kann (Wiedemann et al, 2018a).…”