Association between an alternative promoter polymorphism and sperm deformity rate is due to modulation of the expression of KATNAL1 transcripts in Chinese Holstein bulls
文献类型： 外文期刊
作者： Zhang, X. 1 ; Wang, C. 2 ; Zhang, Y. 2 ; Ju, Z. 2 ; Qi, C. 2 ; Wang, X. 2 ; Huang, J. 2 ; Zhang, S. 2 ; Li, J. 2 ; Zhong, J. 2 ; Shi, F. 1 ;
作者机构： 1.Nanjing Agr Univ, Coll Anim Sci & Technol, Nanjing 210095, Jiangsu, Peoples R China
2.Shandong Acad Agr Sci, Dairy Cattle Res Ctr, Jinan 250131, Peoples R China
3.Henan Inst Sci & Technol, Coll Anim Sci, Xinxiang 453000, Peoples R China
关键词： bovine; functional SNP; katanin p60 subunit A-like 1; promoter luciferase activity analysis; semen traits; splice variant
期刊名称：ANIMAL GENETICS （ 影响因子：3.169； 五年影响因子：3.058 ）
ISSN： 0268-9146
年卷期： 2014 年 45 卷 5 期
页码：
收录情况： SCI
摘要： Katanin p60 subunit A-like 1 (KATNAL1) is an ATPase that regulates Sertoli cell microtubule dynamics and sperm retention. We evaluated one novel splice variant and characterized the promoter and a functional single nucleotide polymorphism (SNP) of the bovine KATNAL1 gene to explore its expression pattern, possible regulatory mechanism and relationship with semen traits in Chinese Holstein bulls. A novel splice variant, KATNAL1 transcript variant 2 (KATNAL1-TV2) of the retained 68bp in intron 2, was identified by RT-PCR and compared with KATNAL1 transcript variant 1 (KATNAL1-TV1, NM 001192918.1) in various tissues. Bioinformatics analyses predicted that KATNAL1 transcription was regulated by two promoters: P1 in KATNAL1-TV1 and P2 in KATNAL1-TV2. Results of qRT-PCR revealed that KATNAL1-TV1 had higher expression than did KATNAL1-TV2 in testes of adult bulls (P<0.05). Promoter luciferase activity analysis suggested that the core sequences of P1 and P2 were mapped to the region of c.-575c.-180 and c.163-40c.333+59 respectively. One novel SNP (c.163-210T>C, ss836312085) located in intron 1 was found using sequence alignment. The SNP in P2 resulted in the presence of the DeltaE binding site, improving its basal promoter activity (P<0.05); and we observed a greater sperm deformity rate in bulls with the genotype CC than in those with the genotype TT (P<0.05), which indicated that different genotypes were associated with the bovine semen traits. Bioinformatics analysis of the KATNAL1 protein sequence predicted that the loss of the MIT domain in the KATNAL1-TV2 transcript resulted in protein dysfunction. These findings help us to understand that a functional SNP in P2 and subsequent triggering of expression diversity of KATNAL1 transcripts are likely to play an important role with regard to semen traits in bull breeding programs.
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