Polymorphisms of 3'-UTR of POU1F1 Gene and Its Association with Growth Traits in Shaanbei White Cashmere Goats (Capra hircus)
YANG Han1*, ZHANG Yang-Hai1*, WANG Min1, KANG Yu-Xin1, ZHU Hai-Jing2,3, LAN Xian-Yong1, QU Lei2,3, YAN Hai-Long1,2,3, PAN Chuan-Ying1**
1 College of Animal Science and Technology, Northwest A&F University, Yangling 712100, China;; 2 Life Science Research Center, Yulin University, Yulin 719000, China; 3 Shaanxi Provincial Engineering and Technology Research Center of Cashmere Goats, Yulin University, Yulin 719000, China
Abstract：Pituitary specific transcription factor 1 (POU1F1) is a member of the POU family (pituitary specific transcription factor, Pit-1; octameric binding protein, Oct-1 and Oct-2; caenorhabedit Ⅰ nematode nerve Unc-86), who is a positive transcription factor regulating pituitary hormone-related genes and plays an important role in the growth and development of mammals. Thus, POU1F1 gene is extensively considered as a candidate gene for growth performance in goats (Capra hircus). In order to verify the genetic effects of flanking region of POU1F1 gene on the growth traits in Shaanbei white cashmere (SBWC) goats, the genetic polymorphisms of 3'-untranslated region (3'-UTR) within POU1F1 gene was detected in all adult SBWC goats (n=621) by direct DNA sequencing method, and the associations of different genotypes of polymorphisms and 9 kinds of growth traits in SBWC goats were analyzed. Sequencing results showed that a single nucleotide polymorphism (SNP), named NC_030808.1:g.34235967T>C and located at position 164 of the 3'-UTR within POU1F1 gene (c.876+164A>G), was identified in these SBWC population. The frequencies of alleles A and G of this locus were 0.894 and 0.106, respectively; the number of effective alleles (Ne) was 1.235; the homozygosity (Ho) was 0.810; the heterozygosity (He) was 0.190; and the polymorphism information content (PIC) was 0.172 and the loci was low polymorphisms. The values of these genetic polymorphism indexes reflect the inferior degree of genetic variation in this population, and the value of PIC belongs to the low PIC (PIC<0.25). In addition, the c.876+164A>G locus conformed to Hardy-Weinberg equilibrium (P>0.05) in the SBWC goat population. The further association analysis results demonstrated that the c.876+164A>G locus was significantly associated with the body length and cannon circumference in SBWC goats (P<0.05). However, there were no significant effects from the SNP for other growth traits, including body weight, body height, height at hip cross, chest circumference, chest depth, chest width and hip width. The individuals with AG genotype were significantly superior to other genotypes in both body length (P=0.047) and cannon circumference (P=0.035) in this population. Thus, the AG genotype could be considered as a positive genotype for this SNP in SBWC goats. In addition, the mutation in 3'-UTR could not only affect its binding to target miRNA, but also change transcription factor binding sites. Here, bioinformatics prediction of transcription factors on this SNP was performed by Genomatix MatInspector software v3.11, and analysis result indicated that the binding of the transcription factor MEL1 (myelodysplasia syndrome 1/ecotropic viral integration site1-like gene 1) with POU1F1 gene was affected when this locus mutated. MEL1, also called PRDM16, could simultaneously activate and inhibit gene transcription, which might be related to multiple transcriptional domains in gene structure. Therefore, when the A allele was replaced by G allele at the c.876+164A>G locus, the binding of the MEL1 with POU1F1 gene was hampered and the inhibition of POU1F1 gene was discharged, which might affect growth and development of individuals by facilitating the expression level of POU1F1 gene. These research results unveiled that the c.876+164A>G had strong effects on body length and cannon circumference of SBWC goats, which could be used as a candidate marker for marker assisted selection of greater growth performance and would provide scientific information for the genetic breeding and improvement in goat industry.
杨韩, 张阳海, 王敏, 康雨欣, 朱海鲸, 蓝贤勇, 屈雷, 闫海龙, 潘传英. 陕北白绒山羊POU1F1基因3'-UTR多态性及其与生长性状的相关分析[J]. 农业生物技术学报, 2019, 27(7): 1224-1232.
YANG Han, ZHANG Yang-Hai, WANG Min, KANG Yu-Xin, ZHU Hai-Jing, LAN Xian-Yong, QU Lei, YAN Hai-Long, PAN Chuan-Ying. Polymorphisms of 3'-UTR of POU1F1 Gene and Its Association with Growth Traits in Shaanbei White Cashmere Goats (Capra hircus). 农业生物技术学报, 2019, 27(7): 1224-1232.
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