TGIF1 and SF1 polymorphisms are associated with litter size in Small Tail Han sheep

Abstract

TGF‐β induced factor homeobox 1 (TGIF1) and splicing factor 1 (SF1) are important for mammalian reproduction; however, the effects of these genes on litter size in sheep remain unexplored. In this study, we genotyped 768 ewes from seven sheep breeds at two loci: g.37871539C>T, a synonymous mutation of TGIF1; and g.42314637T>C, a 3′UTR variant of SF1. Our analysis of polymorphism revealed only two genotypes at locus g.37871539C>T in TGIF1, with most sheep populations being moderately polymorphic (0.25 < PIC < 0.5) at this site. In contrast, most breeds exhibited low polymorphism (PIC ≤0.25) at the SF1 locus g.42314637T>C. The association analysis revealed that a synonymous mutation at g.37871539C>T in TGIF1 was highly associated with litter size in Small Tail Han sheep, in which it causes a significant decrease in litter size. Conversely, while the SF1 3′UTR variant g.42314637T>C was also highly associated with litter size in sheep, it causes a significant increase in the number of litter size. Combined, these data provide valuable information regarding candidate genetic markers for sheep breeding programs.

Association between polymorphisms in NOBOX and litter size traits in Xiangsu pigs

“…Intronic mutations mostly affect mRNA shearing and folding at the molecular level and do not directly affect phenotypic traits (46, 47). For example, two intronic NOBOX mutations in Chinese women with premature ovarian failure (POF) were not associated with the disease (48), consistent with the intronic mutations in the present study, where g.1624 T>C, g.2770 G>A, and g.2821 A>G were not significantly associated with sow litter size traits (49,50). In the present study, the 3′-UTR mutation locus g.6025 T>A was significantly lower in the AA genotype, characterized by fewer litters and weaned piglets than in TT and TA genotypes in the second litter.…”

Molecular Genetic Characteristics of the Hoxc13 Gene and Association Analysis of Wool Traits

“…It has also been shown that missense and intronic mutations cause changes in gene mRNA expression and that such changes are significantly associated with these two mutations [32]. The occurrence of synonymous mutations can have an effect on production traits, which has also been reported in several studies [33][34][35][36]. Studies have demonstrated that keratin, a target gene of Hoxc13, is critically regulated by Hoxc13 and also has a regulatory role in hair follicle development, and mutations in Hoxc13 have been shown to cause hair defects in mice and human patients [8,37,38].…”

Single-nucleotide polymorphisms in &lt;i&gt;FLT3&lt;/i&gt;, &lt;i&gt;NLRP5&lt;/i&gt;, and &lt;i&gt;TGIF1&lt;/i&gt; are associated with litter size in Small-tailed Han sheep

“…Similar to previous studies, our study revealed that the TGIF1 missense variant g.37866222C > T showed a significant increase in LS at the second and third parity and that mutant-type ewes (CT) displayed the maximum LS (p < 0.05). However, the mutant homozygous genotype TT was not detected, similar to g.37871539C > T in TGIF1 (Zhang, 2020), indicating that lethality may be caused by mutant homozygous genotypes at some loci of TGIF1 in all sheep breeds. Moreover, cel- lular transmembrane domains enable numerous proteins to function on the fertility-related signaling pathway (Guna and Hegde, 2018).…”

“…Combined with our previous data on 768 sheep from seven breeds, which was collected via whole-genome resequencing, some SNPs were screened out (Zhang et al, 2019(Zhang et al, , 2020He et al, 2019), including rs421947730 and rs160510212 of FLT3; rs429977514, rs408772397, and rs426897754 of NLRP5; and g.37866222C > T and rs1092900782 of TGIF1. Primers to genotype these SNPs were designed by MassAR-RAY® Assay Design (v.3.1).…”