Identification of Functional Single Nucleotide Polymorphisms in Porcine HSD17B14 Gene Associated with Estrus Behavior Difference between Large White and Mi Gilts

Abstract

Steroid hormone levels are associated with estrous behavior, which affects timely mating and reproductive efficiency in pigs. 17β-hydroxysteroid dehydrogenase type 14 (HSD17B14) modulates steroid synthesis and metabolism. To identify the functional single nucleotide polymorphisms (SNPs) in the porcine HSD17B14 gene, ear tissues from Large White and Mi gilts were collected to extract genomic DNA. Variable lengths of truncated promoter of HSD17B14 gene were used to determine the promoter activity by a dual luciferase reporter system. The vector HSD17B14Phe or HSD17B14Val was transfected into porcine granulosa cells (GCs). The core promoter region was identified between −72 bp and −218 bp. Six of seven SNPs had significant differences of allele frequency between Large White and Mi gilts. The plasmids with the wild genotype AA of rs329427898 maintained a smaller fraction of promoter activity compared with the plasmids with the mutant genotype GG, while the plasmids with wild the genotype TT of rs319864566 had a greater promoter activity than the plasmids with the mutant genotype CC. A missense mutation (Phe73Val) caused changes in the structural dynamics and function of the HSD17B14 protein. The highly expressed HSD17B14Val degraded less estradiol into estrone, while the relatively lowly expressed HSD17B14Phe degraded more estradiol into estrone, suggesting the protein activity of HSD17B14Phe was greater than that of HSD17B14Val. Moreover, the HSD17B14Phe group has a greater apoptosis rate of porcine GCs. The HSD17B14 gene could been used as a candidate molecular marker for estrus behavior in pigs.

Mutational profiling of low‐grade gliomas identifies prognosis and immunotherapy‐related biomarkers and tumour immune microenvironment characteristics

“…31 In addition, we also found the mutations of these mutated genes in the patients with LGG were mainly missense mutations. A high proportion of missense mutations may change genetic information though affecting the structure and function of proteins, 32,33 suggesting possible roles in the pathogenesis of LGG. SNP was the Then, we performed KEGG pathway enrichment analysis, showing that top 30 screened genes in LGG were enriched in items including central carbon metabolism in cancer, hepatocellular carcinoma, endometrial cancer, melanoma and breast cancer.…”

“…In addition, we also found the mutations of these mutated genes in the patients with LGG were mainly missense mutations. A high proportion of missense mutations may change genetic information though affecting the structure and function of proteins, 32,33 suggesting possible roles in the pathogenesis of LGG. SNP was the main mutation variant type, and C>T was the main DNA base substitution compared with other SNV classes in the patients with LGG.…”

Identification of mutations in porcine STAT5A that contributes to the transcription of CISH

“…In general, non-synonymous single nucleotide polymorphism (nsSNP), which leads to single amino acid substitution in the coded protein, is of particular interest in mammalian genetic research. For example, nsSNP rs342747498 (T/G) within porcine 17β-hydroxysteroid dehydrogenase type 14 ( HSD17B14) causes substitution from phenylalanine (Phe) to valine (Val), leading to the alteration of HSD17B14 function on the conversion of gilt estrogen and ovary granular cells apoptosis ( 31 ). Meanwhile, using the integrated in silico approach, nsSNPs associated with animal economic traits including bovine mastitis resistance ( 32 ), chicken abdominal fat content ( 33 ), and alpacas classic gray phenotype ( 34 ) have been identified.…”