Splicing-related single nucleotide polymorphism of RAB, member of RAS oncogene family like 2B (RABL2B) jeopardises semen quality in Chinese Holstein bulls

文献类型： 外文期刊

第一作者： Wang, Xiuge

作者： Wang, Xiuge;Zhang, Yan;Hao, Haisheng;Huang, Jinming;Zhu, Huabin;Wang, Xiuge;Cui, Xiaohui;Zhang, Yan;Ju, Zhihua;Jiang, Qiang;Yang, Chunhong;Sun, Yan;Wang, Changfa;Huang, Jinming;Zhu, Huabin;Liu, Deyu

作者机构：

关键词： functional single nucleotide polymorphism;splice variant

期刊名称：REPRODUCTION FERTILITY AND DEVELOPMENT （ 影响因子：2.311； 五年影响因子：2.396 ）

ISSN： 1031-3613

年卷期： 2017 年 29 卷 12 期

页码：

收录情况： SCI

摘要： RAB, member of RAS oncogene family like 2B (RABL2B) is a member of a poorly characterised clade of the RAS GTPase superfamily, which plays an essential role in male fertility, sperm intraflagellar transport and tail assembly. In the present study, we identified a novel RABL2B splice variant in bovine testis and spermatozoa. This splice variant, designated RABL2B-TV, is characterised by exon 2 skipping. Moreover, a single nucleotide polymorphism (SNP), namely c.125G>A, was found within the exonic splicing enhancer (ESE) motif, indicating that the SNP caused the production of the RABL2B-TV aberrant splice variant. This was demonstrated by constructing a pSPL3 exon capturing vector with different genotypes and transfecting these vectors into murine Leydig tumour cell line (MLTC-1) cells. Expression of the RABL2B-TV transcript was lower in semen from high-versus low-performance bulls. Association analysis showed that sperm deformity rate was significantly lower in Chinese Holstein bulls with the GG or GA genotype than in bulls with the AA genotype (P < 0.05). In addition, initial sperm motility was significantly higher in individuals with the GG or GA genotype than in individuals with the AA genotype (P < 0.05). The findings of the present study suggest that the difference in semen quality in bulls with different RABL2B genotypes is generated via an alternative splicing mechanism caused by a functional SNP within the ESE motif.

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