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SPEF2基因可变剪切体和功能性SNP鉴定及其与公牛精液性状的相关性研究

DOI: 10.7685/j.issn.1000-2030.2014.03.018, PP. 119-125

Keywords: 精子鞭毛2基因,剪切增强子,单核苷酸多态性,公牛,精液品质

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Abstract:

为研究牛精子鞭毛2(SPEF2)基因在中国荷斯坦公牛各组织中的表达调控机制及其与精液品质的相关性,利用RT-PCR和克隆测序技术分析SPEF2基因的可变剪切体,同时利用PCR-RFLP(PCR-restrictionfragmentlengthpolymorphism)技术对中国荷斯坦公牛群体进行基因型检测分析。结果表明鉴定到1个新转录本,命名为SPEF2-splicevariant(SPEF2-SV),此转录本是从外显子2到外显子5之间缺失459bp的新序列,预测编码1个含有1618个氨基酸的蛋白。SPEF2基因的参考转录本在睾丸中高表达,而SPEF2-SV呈现低表达。在SPEF2基因第1内含子(邻近剪切位点附近140bp)筛选到1个单核苷酸多态(SNP)突变位点(g.11043C>T),经ESEfinder3.0软件预测发现该SNP改变了剪切因子结合蛋白SC35与靶序列的结合,它可能是产生异常转录本的重要原因。此SNP位点与中国荷斯坦公牛精液品质的相关性分析结果表明,其与射精量、精子密度和精子活力无显著相关,而与精子畸形率显著相关(PT突变位点可作为中国荷斯坦公牛精液品质选择的潜在功能性分子标记。

References

[1]  Liu X Y,Ju Z H,Wang L L,et al.Six novel single-nucleotide polymorphisms in SPAG11 gene and their association with sperm quality traits in Chinese Holstein bulls[J].Animal Reproduction Science,2011,129:14-21
[2]  潘晴,鞠志花,张燕,等.磷脂酶C-zeta基因(PLCz)多态性与中国荷斯坦公牛精液性状相关性研究[J].农业生物技术学报,2013,21(3):328-337
[3]  白井岩,吴洁,蒋小强,等.公牛MBL2基因多态性与精液品质及后裔生产性能的相关性研究[J].畜牧兽医学报,2013,44(10):1561-1568
[4]  Zhang Z B,Zhang W,Li R L,et al.Novel splice variants of the bovine PCK1 gene[J].Genetics and Molecular Research,2013,12(3):4028-4035
[5]  Ostrowski L E,Andrews K,Potdar P,et al.Cloning and characterization of KPL2,a novel gene induced during ciliogenesis of tracheal epithelial cells[J].Am J Respir Cell Mol Biol,1999,20:675-683
[6]  Sironen A,Thomsen B,Andersson M,et al.An intronic insertion in KPL2 results in aberrant splicing and causes the immotile short-tail sperm defect in the pig[J].Proc Natl Acad Sci USA,2006,103:5006-5011
[7]  Sironen A,Kotaja N,Mulhern H,et al.Loss of SPEF2 function in mice results in spermatogenesis defects and primary ciliary dyskinesia[J].Biology of Reproduction,2011,85:690-701
[8]  Elliott D J,Grellscheid S N.Alternative RNA splicing regulation in the testis[J].Reproduction,2006,132:811-819
[9]  Pan Q,Shai O,Lee L J,et al.Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing[J].Nat Genet,2008,40:1413-1415
[10]  Chacko E,Ranganathan S.Genome-wide analysis of alternative splicing in cow:implications in bovine as a model for human diseases[J].BMC Genom,2009,10(Suppl3):S11
[11]  Barbosa-Morais N L,Irimia M,Pan Q,et al.The evolutionary landscape of alternative splicing in vertebrate species[J].Science,2012,338:1587-1593
[12]  Merkin J,Russell C,Chen P,et al.Evolutionary dynamics of gene and isoform regulation in mammalian tissues[J].Science,2012,338:1593-1599
[13]  Noda T,Sakase M,Fukushima M,et al.Novel approach for the detection of the vestiges of testicular mRNA splicing errors in mature spermatozoa of Japanese black bulls[J].PLoS ONE,2013,8:e57296.doi:10.1371/journal.pone.0057296
[14]  Ota T,Suzuki Y,Nishikawa T,et al.Complete sequencing and characterization of 21 243 full-length human cDNAs[J].Nat Genet,2004,36:40-45
[15]  Sironen A,Hansen J,Thomsen B,et al.Expression of SPEF2 during mouse spermatogenesis and identification of IFT20 as an interacting protein[J].Biol Reprod,2010,82:580-590
[16]  Montgomery S B,Sammeth M,Gutierrez-Arcelus M,et al.Transcriptome genetics using second generation sequencing in a Caucasian population[J].Nature,2010,464:773-777
[17]  Hahn M A,McDonnell J,Marsh D J.The effect of disease-associated HRPT2 mutations on splicing[J].J Endocrinol,2009,201:387-396
[18]  Dr?gemüller C,Reichart U,Seuberlich T,et al.An unusual splice defect in the mitofusin 2 gene(MFN2)is associated with degenerative axonopathy in Tyrolean Grey cattle[J].PLoS One,2011,6:e18931.doi:10.1371/journal.pone.0018931
[19]  孙东晓,谢岩,范学华,等.一种公牛冻精基因组DNA的提取方法:中国,CN102296062A.2011-12-28
[20]  左北瑶,钱宏光,刘佳森,等.德国肉用美利奴羊BMPR-IB、BMP15和GDF9基因10个突变位点的多态性检测分析[J].南京农业大学学报,2012,35(3):114-120.doi:10.7685/j.issn.1000-2030.2012.03.020
[21]  Marquardt W.An algorithm for least-squares estimation of nonlinear parameters[J].SIAM Journal on Applied Mathematics,1963,11:431-441
[22]  Graveley B R.Alternative splicing:increasing diversity in the proteomic world[J].Trends Genet,2001,17:100-107
[23]  Hayashi I,Ikura M.Crystal structure of the amino-terminal microtubule-binding domain of end-binding protein 1(EB1)[J].J Biol Chem,2003,278(38):36430-36434
[24]  Cartegni L,Krainer A R.Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1[J].Nat Genet,2002,30:377-384
[25]  Dam A H D M,Koscinski I,Kremer J A M,et al.Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia[J].The American Journal of Human Genetics,2007,81(4):813-820
[26]  Imken L,Rouba H,El Houate B,et al.Mutations in the protamine locus:association with spermatogenic failure?[J].Molecular Human Reproduction,2009,15(11):733-738
[27]  Gabut M,Miné M,Marsac C,et al.The SR protein SC35 is responsible for aberrant splicing of the E1α pyruvate dehydrogenase mRNA in a case of mental retardation with lactic acidosis[J].Mol Cell Biol,2005,25:3286-3294

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