海南黑山羊GDF9基因nsSNP功能性预测及与产羔数的关联分析

doi:10.16431/j.cnki.1671-7236.2025.05.021

Abstract

Abstract: 【Objective】 This study was aimed to investigate the molecular genetic information of litter traits in Hainan Black goats and the correlation between polymorphism of growth differentiation factor 9 (GDF9) gene and litter size,in order to provide useful molecular markers for prolific breeding in goats.【Method】 Using Hainan Black goats as the research object,blood samples were collected from 222 goats for non-synonymous single nucleotide polymorphism (nsSNP) screening of GDF9 gene.Genotyping was performed using SnaPshot method,and the association analysis between GDF9 gene polymorphism and litter size in Hainan Black goats using the General Linear Model of SPSS 19.0 software,and the bioinformatics analysis was carried out on nsSNP.【Result】 A total of 15 variant sites were detected in GDF9 gene,including 7 missense mutations (T755C,G1264T,G2296A,G2335A,C2730T,G277A and C3330T),6 synonymous mutations (G888A,T951G,A972C,T631C,A2871C and G3101A),and 2 insertion sites (3101G312 and 3140T3141).The T→C mutation at 755 bp caused a mutation from methionine (Met) to threonine (Thr),the G→T mutation at 1 264 bp caused a mutation from alanine (Ala) to serine (Ser),the G→A mutation at 2 296 and 2 335 bp caused a mutation from valine (Val) to isoleucine (IIe),the C→T mutation at 2 730 bp caused a mutation from leucine (Leu) to phenylalanine (Phe),the G→A mutation at 2 773 bp caused a mutation from alanine (Ala) to threonine (Thr),and the C→T mutation at 3 330 bp caused a mutation from proline (Pro) to leucine (Leu).The insertion of G and T at 3 101-3 102 and 3 140-3 141 bp completely altered the amino acids.The average litter size of TT and CC genotypes in T755C of Hainan Black goats was significantly higher than that of TC genotype (P＜0.05).The average litter size of AA genotype in G2335A and G2773A was significantly higher than that of GG and GA genotypes (P＜0.05).The average litter size of TT genotype in C2730T was significantly higher than that of CC and CT genotypes (P＜0.05).The results of nsSNP functional prediction and advanced structure analysis showed that 5 nsSNPs of T755C→M252T,C2730T→L912F,G2335A→V780I,G2296A→V767I,and G2773A→A926T were deleterious,with significant changes in the mRNA secondary structure and protein tertiary structure at T755C→M252T and C2730T→L912F,which were predicted to have a greater effect on protein function.【Conclusion】 This study screened out 5 deleterious mutation sites of GDF9 gene in Hainan Black goats.Based on the correlation analysis with litter size and protein function prediction,it was speculated that T755C→M252T and C2730T→L912F could be used as molecular markers for the breeding of prolific trait in Hainan Black goats,providing a reference for molecular-assisted breeding in goats.

Key words: Hainan Black goats; GDF9 gene; nsSNP; litter size; bioinformatics

CLC Number:

S813.3

GUAN Song, SHI Liguang, LIN Yu, JIANG Jianxiao, WU Hongzhi, PENG Weiqi. Functional Prediction of GDF9 Gene nsSNP and Its Correlation Analysis with Litter Size in Hainan Black Goats[J]. China Animal Husbandry and Veterinary Medicine, 2025, 52(5): 2166-2176.

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Functional Prediction of GDF9 Gene nsSNP and Its Correlation Analysis with Litter Size in Hainan Black Goats

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