3个地方猪品种BOLL和STRA8基因结构变异位点的群体分布研究

doi:10.16431/j.cnki.1671-7236.2018.06.022

摘要/Abstract

摘要：

为了探讨BOLL-I6-sv285（15号染色体BOLL基因第6内含子）和STRA8-I4-sv447（18号染色体STRA8基因第4内含子）这两个结构变异在地方猪与欧洲猪品种中的群体分布差异，试验采用PCR方法对从江香猪、江口萝卜猪、荣昌猪和大白猪4个猪品种进行基因分型，并通过在线软件miRBase、UCSC、RegRNA 2.0对结构变异序列所含的功能元件进行分析。结果显示，BOLL-I6-sv285为一段285 bp的插入，经群体验证，3个地方猪品种以DI和DD基因型为主，I等位基因的频率高于大白猪，插入基因型（Ⅱ）对应较高的产仔数，基因型与从江香猪产仔数之间呈显著相关（P<0.05）；STRA8-I4-sv447为一段447 bp的插入突变，群体中DD基因型占优势，从江香猪、江口萝卜猪和大白猪的I等位基因频率高于荣昌猪，插入基因型（Ⅱ）对应较低的产仔数，基因型与从江香猪产仔数之间呈显著相关（P<0.05）。本试验鉴定的BOLL-I6-sv285和STRA8-I4-sv447两个结构变异可作为从江香猪产仔数的候选分子标记。

关键词: BOLL基因; STRA8基因; 结构变异; 从江香猪; 江口萝卜猪; 荣昌猪

Abstract:

To explore the differences of population distribution of two structural variations(BOLL-I6-SV285 from the intron 6 of BOLL gene on chromosome 15 and STRA8-I4-SV447 from the intron 4 of STRA8 gene on chromosome 18) between local pig breeds and European ones,the genotypes were detected by PCR method taking four pig breeds as samples,including Congjiang Xiang pig,Jiangkouluobo pig,Rongchang pig and Large White pig breeds.The functional elements in structural variations regions were analyzed using the online softwares of miRBase,UCSC and RegRNA 2.0.The results showed that an insertion of DNA fragment with 285 bp in length was confirmed in the structural variations of BOLL-I6-sv285,the dominant genotypes were DI and DD genotypes in three local pig breeds,and the frequency of allele I in the local pig breeds was higher than that in Large White pigs.Furthermore,Ⅱ genotype of BOLL-I6-sv285 was significantly related with higher litter size of Congjiang Xiang pig (P<0.05).For the structure variation STRA8-I4-SV447,it was an insertion mutation with 447 bp,and DD genotype was the dominant genotype in four pig groups,and the frequency of allele I in Congjiang Xiang pig,Jiangkouluobo pig and Large White pig were higher than that in Rongchang pig.The insertion types (Ⅱ) of STRA8-I4-SV447 was significantly related with lower litter size of Congjiang Xiang pig (P<0.05).This results suggested that BOLL-I6-sv285 and STRA8-I4-sv447 could be taken as candidate sites for the litter size choice in Congjiang Xiang pig population.

Key words: BOLL gene; STRA8 gene; structural variation; Congjiang Xiang pig; Jiangkouluobo pig; Rongchang pig

中图分类号:

S813.3

李大鹏, 阮亦麒, 刘畅, 牛熙, 黄世会, 冉雪琴, 王嘉福. 3个地方猪品种BOLL和STRA8基因结构变异位点的群体分布研究[J]. 《中国畜牧兽医》, 2018, 45(6): 1599-1607.

LI Dapeng, RUAN Yiqi, LIU Chang, NIU Xi, HUANG Shihui, RAN Xueqin, WANG Jiafu. Study on the Population Distribution of Two SV Sites in BOLL and STRA8 Genes of Three Indigenous Pig Breeds[J]. , 2018, 45(6): 1599-1607.

参考文献

[1] PAILHOUX E,VIGIER B,CHAFFAUX S,et al.A 11.7-kb deletion triggers intersexuality andpolledness in goats[J].Nature Genetics,2001,163(1):73-92.
[2] 宋伸,杨敏,蒋琳,等.基于高通量测序技术的山羊遗传多样性及其生产性状研究进展[J].中国畜牧兽医,2017,45(10):2965-2972. SONG S,YANG M,JIANG L,et al.Researchprogress on goat genetic diversity and production traits based on high-throughput sequencing technology[J]. China Animal Husbandry & Veterinary Medicine,2017,45(10):2965-2972.(in Chinese)
[3] LI W,CHEN S,LI H,et al.A new insertion/deletion fragment polymorphism ofinhibin-α gene associated with follicular cysts in Large White sows[J].Journal of Veterinary Medical Science,2015,78(3):473-476.
[4] 曾文芳,丁义峰,王小贝,等.桃硬质性状可能源于PpYUC11基因启动子区域CACTA型转座子的插入[J].果树学报,2017,34(10):1239-1248. ZENG W F,DING Y F,WANG X B,et al.A CACTA transposable element in a PpYUC11 gene promoter is associated with the stony hard phenotype in peach[J].Journal of Fruit Science,2017,34(10):1239-1248.(in Chinese)
[5] FREY M E,D'IPPOLITO S,PEPE A,et al.Transgenic expression of plant-specific insert of potato aspartic proteases (StAP-PSI) confers enhanced resistance to Botrytis cinerea,in Arabidopsis thaliana[J].Phytochemistry,2018,149(1):1-11.
[6] YANG Z,GAO T,ZHAO G,et al.Generation of human MHC (HLA-A11/DR1) transgenic mice for vaccine evaluation[J].Human Vaccines,2016,12(3):829-839.
[7] 杨廷模,刘畅,赵恒鑫,等.高产从江香猪资源调查及其FSH基因型分析[J].畜牧与兽医,2014,46(8):5-8. YANG T M,LIU C,ZHAO H X,et al.Investigation on Xiang pigs of high fecundity in Congjiang county of Guizhou province[J].Animal Husbandry and Veterinary Medicine,2014,46(8):5-8.(in Chinese)
[8] XU E Y,MOORE F L,PERA R A.A gene family required for human germ cell development evolved from an ancient meiotic gene conserved inmetazo-ans[J].Proceedings of the National Academy of Sciences of the United States of America,2001,98(13):7414-7419.
[9] MOZDARANI H,GHORAEIAN P,MOZDARANI S,et al.High frequency of de novoDAZ microdeletion in sperm nuclei of subfertile men:Possible involvement of genome instability in idiopathic male infertility[J].Human Fertility,2018,21(2):137-145.
[10] 马仕昆,郭佳倩,郑哲,等.Stra8在精子发生中的研究进展[J].医学综述,2015,21(14):2500-2502. MA S K,GUO J Q,ZHENG Z,et al.Research progress of Stra8 in spermatogenesis[J].Medical Recapitulate,2015,21(14):2500-2502.(in Chinese)
[11] 张振韬,王丹,施青青,等.视黄酸及Stra8基因联合作用对雄性鸡胚胎干细胞分化的影响[J].畜牧兽医学报,2014,45(1):38-45. ZHANG Z T,WANG D,SHI Q Q,et al.Effect ofcombination of retinoic acid and Stra8 gene on male cESCs differentiation[J].Acta Veterinaria et Zootechnica Sinica,2014,45(1):38-45.(in Chinese)
[12] WU Q,KURUMI F,YUZURU K,et al.Sexual fate change of XX germ cells caused by the deletion of SMAD4 and STRA8 independent of somatic sex reprogramming[J].PLoS Biology,2016,14(9):e1002553.
[13] LI P Z,YAN G Y,HANL,et al.Overexpression of STRA8,BOULE,and DAZL genes promotes goat bone marrow-derived mesenchymal stem cells in vitro transdifferentiation toward putative male germ cells[J].Reproductive Sciences,1933,2(2):300-312.
[14] FU X F,CHENG S F,WANG L Q,et al.DAZ family proteins,key players for germ cell development[J].International Journal of Biological Sciences,2015,11(10):1226-1235.
[15] MAINES J Z,WASSERMAN S A.Post-transcriptional regulation of the meiotic Cdc25 protein Twine by theDazl orthologue Boule[J].Nature Cell Biology,1999,1(3):171-174.
[16] LUO M,REED R.Splicing is required for rapid and efficient mRNA export inmetazoans[J].Proceedings of the National Academy of Sciences of the United States of America,1999,96(26):14937-14942.
[17] LIN Y M,CHUNG C L,CHENG Y S.Posttranscriptional regulation of CDC25A by BOLL is a conserved fertility mechanism essential for human spermatogenesis[J].Journal of Clinical Endocrinology & Metabolism,2009,94(7):2650-2657.
[18] KOSTOVA E,YEUNG C H,LUETJENS C M,et al.Association of three isoforms of the meiotic BOULE gene with spermatogenic failure in infertile men[J].Molecular Human Reproduction,2007,13(2):85-93.
[19] XU E Y,LEE D F,KLEBES A,et al.Human BOULE gene rescues meiotic defects in infertile flies[J].Human Molecular Genetics,2003,12(2):169-175.
[20] LUETJENS C M,XU E Y,PERA R A R,et al.Association ofmeiotic arrest with lack of BOULE protein expression in infertile men[J].Journal of Clinical Endocrinology & Metabolism,2004,89(4):1926-1933.
[21] KEE K,ANGELES V T,FLORES M,et al.Human DAZL, DAZ and BOULE genes modulate primordial germ cell and haploid gamete formation[J].Nature,2009,462(7270):222-225.
[22] HE J,STEWART K,KINNELL H L,et al.A developmental stage-specific switch from DAZL to BOLL occurs during fetal oogenesis in humans,but not mice[J].PLoS One,2013,8(9):e73996.
[23] 郭晓强,蔡志明.视黄酸激活基因Stra8对生殖细胞减数分裂起始的调节作用[J].生命的化学,2009,29(2):275-278. GUO X Q,CAI Z M.The regulating function of Stra8 on meiotic initiation of germ cell[J].Chemistry of Life,2009,29(2):275-278.(in Chinese)
[24] MIYAMOTO T,SENGOKU K,TAKUMA N,et al.Isolation and expression analysis of the testis-specific gene,STRA8,stimulated by retinoic acid gene 8[J].Journal of Assisted Reproduction & Genetics,2002,19(11):531-535.
[25] 邵伟,樊玉杰,徐永镇.SR蛋白家族在RNA剪接中的调控作用[J].生命科学,2010,22(7):710-716. SHAO W,FAN Y J,XU Y Z.Function of SR protein family in pre-mRNA splicing[J].Chinese Bulletion of Life Science,2010,22(7):710-716.(in Chinese)
[26] REYNOLDS N,COOKE H J.Role of the DAZ genes in male fertility[J].Reproductive Biomedicine Online,2005,10(1):72-80.
[27] 张芳,徐菁.环磷酸腺苷反应元件调控因子在精索静脉曲张大鼠睾丸的表达及意义[J].中国药物与临床,2017,17(4):506-508. ZHANG F,XU J.Expression of cAMP regulatory elements in testis of varicocele rats and its signifi-cance[J].Chinese Medicinalties and Clinics,2017,17(4):506-508.(in Chinese)
[28] 周国利,宋雨霏,李军,等.选择性多聚腺苷酸化在生物学过程中功能的研究进展[J].黑龙江畜牧兽医,2016,9:50-52. ZHOU G L,SONG Y J,LI J,et al.Research advances on the function of alternativepolyadenylation in biological processes[J].Heilongjiang Journal of Animal Husbandry and Veterinary,2016,9:50-52.(in Chinese)
[29] ZHANG B,LIU Y,LIU D,et al.Targeting cleavage andpolyadenylation specific factor 1 via shRNA inhibits cell proliferation in human ovarian cancer[J].Journal of Biosciences,2017,42(3):417-425.
[30] PERRON M,SARAGOVI H U.Inhibition of CD45 phosphatase activity induces cell cycle arrest and apoptosis of CD45⁺ lymphoid tumors ex vivo and in vivo[J].Molecular Pharmacology,2018,93(6):575-580.