title: [Functional haplotypes of INCENP affect promoter activity and bovine semen quality].
abstract: To explore the association between single nucleotide polymorphisms (SNPs) in the promoter region of the inner centromere protein (INCENP) gene and bovine semen quality, the haplotypes in 250 Chinese Holstein bulls were detected using PCR-RFLP method in this study. Two SNPs (g.-556 G>T, rs 136823901 and g.-692 C>T, rs 211010999) and three haplotypes (CG, TT, TG) were identified in the promoter region of INCENP. The genotype frequency and allele frequency of these two SNPs as well as the correlation between different SNP haplotype combinations and bovine semen quality were then analyzed. Our results showed that fresh sperm motility of the GT genotype was significantly higher than that of the GG genotype (P<0.05) at the SNP site g.-556 G>T, while fresh and frozen-thawed sperm motilities of the haplotype combinations H1H1(CCGG), H1H3(CTGT), H2H3(TTGT) and H3H3(TTTT) were significantly higher than that of H1H2 (P<0.05). To further study the possible mechanisms by which g.-556 G>T and g.-692 C>T affect semen quality, three haplotype plasmids were respectively transfected into MLTC-1 cells. The TG haplotype demonstrated the highest luciferase activity, suggesting that g.-556 G>T and g.-692 C>T are functional mutations which could regulate INCENP gene expression by affecting promoter activity and thus affect semen quality.
authors.affiliation: College of Agronomic Sciences in Shandong Agricultural University, Taian 271000, China; Dairy Cattle Research Center, Shandong Academy of Agricultural Science, Jinan 250131, China;
authors.forename: Juan
authors.initials: J
authors.lastname: Liu
authors.affiliation: Dairy Cattle Research Center, Shandong Academy of Agricultural Science, Jinan 250131, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Sun
authors.affiliation: Dairy Cattle Research Center, Shandong Academy of Agricultural Science, Jinan 250131, China.
authors.forename: Qiang
authors.initials: Q
authors.lastname: Jiang
authors.affiliation: Dairy Cattle Research Center, Shandong Academy of Agricultural Science, Jinan 250131, China.
authors.forename: Chun-hong
authors.initials: CH
authors.lastname: Yang
authors.affiliation: Dairy Cattle Research Center, Shandong Academy of Agricultural Science, Jinan 250131, China.
authors.forename: Jin-ming
authors.initials: JM
authors.lastname: Huang
authors.affiliation: Dairy Cattle Research Center, Shandong Academy of Agricultural Science, Jinan 250131, China.
authors.forename: Jian-bin
authors.initials: JB
authors.lastname: Li
authors.affiliation: Dairy Cattle Research Center, Shandong Academy of Agricultural Science, Jinan 250131, China.
authors.forename: Ming-hai
authors.initials: MH
authors.lastname: Hou
authors.affiliation: Dairy Cattle Research Center, Shandong Academy of Agricultural Science, Jinan 250131, China.
authors.forename: Ji-feng
authors.initials: JF
authors.lastname: Zhong
authors.affiliation: Dairy Cattle Research Center, Shandong Academy of Agricultural Science, Jinan 250131, China.
authors.forename: Chang-fa
authors.initials: CF
authors.lastname: Wang
authors.affiliation: College of Agronomic Sciences in Shandong Agricultural University, Taian 271000, China.
authors.forename: Bao-shen
authors.initials: BS
authors.lastname: Liu
mesh_terms: D000818:Animals; D001483:Base Sequence; D002417:Cattle / Q000235:genetics* / Q000378:metabolism; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics* / Q000378:metabolism; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes; D008297:Male; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D055101:Semen Analysis; D013094:Spermatozoa / Q000737:chemistry / Q000378:metabolism*
chemical_list: D002868:Chromosomal Proteins, Non-Histone