松辽黑猪FOXA2基因第3外显子多态性及其与繁殖性状的关联分析

doi:10.16431/j.cnki.1671-7236.2023.04.016

摘要/Abstract

摘要： 【目的】分析叉头框家族转录因子A2(forkhead box A2,FOXA2)基因第3外显子多态位点在地方猪种中的遗传多样性及其与松辽黑猪繁殖性状的相关性。【方法】采集90头健康经产松辽黑猪母猪耳组织,采用直接测序法检测FOXA2基因第3外显子SNP位点,利用SPSS 26.0软件分析FOXA2基因第3外显子SNP位点多态性(基因型频率、基因频率、遗传纯合度、遗传杂合度、有效等位基因数、多态信息含量)及其与松辽黑猪母猪繁殖性状(总产仔数、产活仔数、乳头数以及仔猪初生重、3周龄重、断奶重、断奶仔猪数)的相关性。【结果】松辽黑猪FOXA2基因第3外显子共检测出3个SNPs位点,1337 bp处SNP位点(C1337A)上发现CC、CA和AA 3种基因型;1343 bp处SNP位点(C1343G)上发现CC、CG和GG 3种基因型;1626 bp处SNP位点(C1626T)上发现CC、CT和TT 3种基因型。卡方适合性检验表明,松辽黑猪FOXA2基因第3外显子的C1337A、C1626T位点符合哈迪-温伯格平衡状态(P＞0.05),C1343G位点偏离哈迪-温伯格平衡状态(P＜0.05)。多态信息含量(PIC)计算显示,C1337A、C1626T位点为中度多态(0.25＜PIC＜0.50),C1343G位点为高度多态(PIC＞0.50)。关联分析结果表明,C1337A位点的CC基因型个体总产仔数显著高于CA基因型(P＜0.05),AA基因型个体所产仔猪3周龄重、断奶重极显著高于CC、CA基因型(P＜0.01);C1626T位点的CC基因型个体所产仔猪3周龄重、断奶重极显著或显著高于CT、TT基因型(P＜0.01;P＜0.05),CC基因型个体乳头数显著高于CT基因型个体(P＜0.05)。【结论】FOXA2基因第3外显子存在3个多态性位点,与松辽黑猪总产仔数、3周龄重、断奶重和乳头数均有显著关联性。

关键词: 松辽黑猪; FOXA2基因; 第3外显子; 繁殖性状; 关联分析; 遗传标记

Abstract: 【Objective】 The aim of this study was to analyze the genetic diversity of forkhead box A2 (FOXA2) gene exon 3 polymorphism in local pig breeds and its correlation with reproductive traits in Songliao Black pigs.【Method】 The single nucleotide polymorphisms (SNPs) (genotype frequency,gene frequency,genetic homozygosity,genetic heterozygosity,number of effective alleles,polymorphic information content) of FOXA2 gene exon 3 were screened by direct sequencing in ear tissues of 90 healthy Songliao Black pigs,and the correlation between SNP of FOXA2 gene eoxn 3 and reproductive performances (total number of litter,number born alive,number of nipples,birth weight,3-week weight,weaning weight and weaned piglets) were analyzed using SPSS 26.0 software.【Result】 The results obtained that SNPs sites (C1337A,C1343G,C1626T)were found of FOXA2 gene exon 3 in Songliao Black pig.Genotypes of CC,CA and AA were contained in C1337A,genotypes of CC,CG and GG were contained in C1343G,and genotypes of CC,CT and TT were contained in C1626T.The chi-square fitness test showed that SNPs (C1337A,C1626T) were in Hardy-Weinberg equilibrium (P＞0.05),C1343G was not in Hardy-Weinberg equilibrium (P<0.05).The calculation of polymorphism information content (PIC) showed that the genetic heterozygosities of C1337A and C1626T were in moderate polymorphism (0.25＜PIC＜0.50),the genetic heterozygosity of C1343G was in the highly polymorphism (PIC＞0.50).The results of association analysis showed that the total number born of CC genotype with C1337A locus was significantly higher than that of CA genotype (P＜0.05),the 3-week weight and weaning weight of piglets born by AA genotype individuals were extremely significantly higher than that of CC and CA genotype (P＜0.01);The 3-week weight and weaning weight of piglets born by CC genotype individuals with C1626T locus were significantly or extremely significantly higher than that of CT and TT genotype (P＜0.05 or P＜0.01),the number of nipples of CC genotype was significantly higher than that of CT genotype (P＜0.05).【Conclusion】 There were three SNPs sites (C1337A,C1343G,C1626T) in exon 3 of FOXA2 gene,which had a significant correlation with the total number born,3-week weight,weaning weight and number of nipples of Songliao Black pig.

Key words: Songliao Black pig; FOXA2 gene; exon 3; reproductive performances; correlation analysis; genetic markers

中图分类号:

S813.3

张方玮, 张琪, 张云鹏, 李欣, 张净搏, 张树敏, 于永生. 松辽黑猪FOXA2基因第3外显子多态性及其与繁殖性状的关联分析[J]. 中国畜牧兽医, 2023, 50(4): 1444-1451.

ZHANG Fangwei, ZHANG Qi, ZHANG Yunpeng, LI Xin, ZHANG Jingbo, ZHANG Shumin, YU Yongsheng. Polymorphism of FOXA2 Gene Exon 3 and Its Association with Reproductive Traits in Songliao Black Pigs[J]. China Animal Husbandry and Veterinary Medicine, 2023, 50(4): 1444-1451.

参考文献

[1] ZHAO Q B,FAVOUR O O,QAMAR R Q,et al.Identifying the unique characteristics of the Chinese indigenous pig breeds in the Yangtze River Delta region for precise conservation[J]. BMC Genomics,2021,22(1):151.
[2] 张树敏.松辽黑猪种质特性的研究[D].长春:吉林大学,2007. ZHANG S M.Study on species' characteristics of Songliao Black swine[D].Changchun:Jilin University,2007.(in Chinese)
[3] RYDHMER L.Genetics of sow reproduction,including puberty,oestrus,pregnancy,farrowing and lactation[J].Livestock Production Science,2000,66(1):1-12.
[4] LAI E,PREZIOSO V R,SMITH E,et al.HNF-3A,a hepatocyte-enriched transcription factor of novel structure is regulated transcriptionally[J].Genes Development,1990,4(8):1427-1436.
[5] KAESTNER K H.The hepatocyte nuclear factor 3 (HNF3 or FOXA) family in metabolism[J].Trends in Endocrinology and Metabolism,2000,11(7):281-285.
[6] 龙娟,欧艺.Foxa2基因突变对2型糖尿病胰岛素抵抗和胰腺β细胞功能的影响[J].中国热带医学,2016,16(3):259-261. LONG J,OU Y.Effect of Foxa2 gene mutation on insulin resistance and pancreatic β cell function in patients with type 2 diabetes[J]. China Tropical Medicine,2016,16(3):259-261.(in Chinese)
[7] 王凯,郭盼盼,管陈安,等,FOXA2过表达对卵巢癌OVCAR3细胞上皮-间充质转化的抑制作用及机制研究[J].浙江医学,2021,43(20):2169-2174. WANG K,GUO P P,GUAN C A,et al.FOXA2 overexpression inhibits epithelial-mesenchymal transition of ovarian cancer OVCAR3 cells and its mechanism[J].Zhejiang Medical,2021,43(20):2169-2174.(in Chinese)
[8] 任雪英,杨维斌,李晓苗.甲状腺转录因子-1和叉头框蛋白A2在上皮性卵巢癌组织中的表达及临床意义[J].中国妇幼保健,2019,34(12):2857-2860. REN X Y,YANG W B,LI X M.Expression and clinical significance of thyroid transcription factor-1 and forkhead box protein A2 in epithelial ovarian cancer[J].Maternal and Child Health Care of China,2019,34(12):2857-2860.(in Chinese)
[9] ALTABA A R,PREZIOSO V R,DARNELL T M.Sequential expression of HNF-3β and HNF-3α by embryonic organizing centers:The dorsal lip/node,notochord and floor plate[J].Mechanisms of Development,1993,44:91-108.
[10] DUFORT D,SCHWARTZ L,HARPAL K,et al.The transcription factor HNF3 beta is required in visceral endoderm for normal primitive streak morphogenesis[J].Development,1998,125(16):3015-3025.
[11] ANG S L,ROSSANT J.HNF-3 beta is essential for node and notochord formation in mouse development[J]. Cell,1994,78(4):561-574.
[12] WEINSTEIN D C,RUIZ A A,CHEN W S,et al.The winged-helix transcription factor HNF-3 beta is required for notochord development in the mouse embryo[J]. Cell,1994,78(4):575-588.
[13] 王楠,周姝,葛红山.FOXA2对子宫内膜容受性影响的研究进展[J].大连医科大学学报,2022,44(2):151-155. WANG N,ZHOU S,GE H S.Research progress of FOXA2 on endometrial receptivity[J]. Journal of Dali Medical University,2022,44(2):151-155.(in Chinese)
[14] 王方,薛剑楠,张艳平,等.牛FOXA2基因转录调控的生物信息学分析[J].家畜生态学报,2021,42(11):11-17. WANG F,XUE J N,ZHANG Y P,et al.Bioinformatics analysis of bovine FOXA2 gene transcription regulation[J].Acta Ecologiae Animalis Domastici,2021,42(11):11-17.(in Chinese)
[15] ANG S L,WIERDA A,STEVENS K A,et al.The formation and maintenance of the definitive endoderm lineage in the mouse:Involvement of HNF3/forkhead proteins[J].Development,1993,119:1301-1315.
[16] MONAGHAN A P,KAESTNER K H,GRAU E,et al.Postimplantation expression patterns indicate a role for the mouseforkhead/HNF-3 alpha,beta and gamma genes in determination of the definitiveendoderm,chordamesoderm and neuroectoderm[J].Development,1993,119:567-578.
[17] SASAKI H,HOGAN B L.Differential expression of multiple fork head related genes during gastrulation and axial pattern formation in the mouse embryo[J].Development,1993,118:47-59.
[18] 吴健.猪生产性状QTL区域5个候选基因的分离、鉴定及功能初步研究[D].武汉:华中农业大学,2007. WU J.Isolation,identification and function of five candidate genes for pig productiont traits QTL[D].Wuhan:Huazhong Agriculture University,2007.(in Chinese)
[19] VANR F,BERX G.The cell-cell adhesion molecule E-cadherin[J].Cellular and Molecular Life Sciences,2008,65(23):3756-3788.
[20] ANDTÉS-LENCINA J J,SIVARAMAKRISHNA R,GARCÍA-CASADO Z,et al.TERT promoter mutation subtypes and survival in stage Ⅰand Ⅱ melanoma patients[J].International Journal of Cancer,2019,144(5):1027-1036.
[21] KELLAHETR A M,MILANO-FOSTER J,SUSANTA K B,et al.Uterine glands coordinate on-time embryo implantation and impact endometrial decidualization for pregnancy success[J]. Nature Communications,2018,9(1):2435.
[22] LIU M,LI M J,WANG S Q,et al.Association analysis of bovine Foxa2 gene single sequence variant and haplotype combinations with growth traits in Chinese cattle[J]. Gene,2014,536(2):385-392.
[23] 李明杨.猪HBEGF、KPNA7、FOXA2和PTGS2基因SNPs检测及其与繁殖性状的关联分析[D].武汉:华中农业大学,2018. LI M Y.Detection of HBEGF、KPNA7、FOXA2 and PTGS2 gene SNPs and association with reproductive traits in pigs.[D]. Wuhan:Huazhong Agriculture University,2018.(in Chinese)
[24] 欧艺,龙娟.Foxa2基因突变与胰岛素β细胞功能的关系[J].中国城乡企业卫生,2017,187:92-94. OU Y,LONG J.Relationship between Foxa2 gene mutation and insulin β-cell function[J]. China Academic Journal Electronic Publishing House,2017,187:92-94.(in Chinese)
[25] 王万兴,张琪,张树敏.松辽黑猪RBP4基因多态性及其与繁殖性状的关联分析[J].中国畜牧兽医,2020,47(8):2493-2501. WANG W X,ZHANG Q,ZHANG S M.Polymorphism of RBP4 gene and its association with reproductive traits in Songliao Black pigs[J].China Animal Husbandry & Veterinary Medicine,2020,47(8):2493-2501.(in Chinese)
[26] 周泉勇,刘晨龙,季华员,等.猪ISG15基因表达、多态性及其与繁殖性状的关联分析[J].江西农业大学学报,2022,44(3):662-669. ZHOU Q Y,LIU C L,JI H Y,et al.Exoression and polymorphism of pocrcine ISG15 gene and its association with reproductive traits[J].Acta Agriculturae Universitatis Jiangxiensis,2022,44(3):662-669.(in Chinese)
[27] 孙晓梅,姜茹斌,刘乙,等.LTBP-1基因多态性与母猪繁殖性状关联分析[J].石河子大学学报(自然科学版),2019,37(1):127-132. SUN X M,JIANG R B,LIU Y,et al.Association analysis between LTBP-1 gene polymorphism traits in sows[J].Journal of Shihezi University (Natural Science),2019,37(1):127-132.(in Chinese)