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.
Juan Liu, Yan Sun, Qiang Jiang, Chunhong Yang, Jinming Huang, Jianbin Li, Minghai Hou, Jifeng Zhong, Changfa Wang, Baoshen Liu
. Functional haplotypes of INCENP affect promoter activity and bovine semen quality[J]. Hereditas(Beijing), 2016
, 38(1)
: 62
-71
.
DOI: 10.16288/j.yczz.15-230
[1] Büyükleblebici S, Taşdemir U, Tuncer PB, Durmaz E, Özgürtaş T, Büyükleblebici O, Coşkun E, Gürcan İS. Can linoleic acid improve the quality of frozen thawed bull sperm? Cryo Letters , 2014, 35(6): 473-481.
[2] Blaschek M, Kaya A, Zwald N, Memili E, Kirkpatrick BW. A whole-genome association analysis of noncompensatory fertility in Holstein bulls. J Dairy Sci , 2011, 94(9): 4695- 4699.
[3] Minozzi G, Nicolazzi EL, Stella A, Biffani S, Negrini R, Lazzari B, Ajmone-Marsan P, Williams JL. Genome wide analysis of fertility and production traits in Italian Holstein cattle. PLoS One , 2013, 8(11): e80219.
[4] Fortes MRS, Reverter A, Kelly M, McCulloch R, Lehnert SA. Genome-wide association study for inhibin, luteinizing hormone, insulin-like growth factor 1, testicular size and semen traits in bovine species. Andrology , 2013, 1(4): 644-650.
[5] Hering DM, Oleński K, Ruść A, Kaminski S. Genome- wide association study for semen volume and total number of sperm in Holstein-Friesian bulls. Anim Reprod Sci , 2014, 151(3-4): 126-130.
[6] Cochran SD, Cole JB, Null DJ, Hansen PJ. Single nucleotide polymorphisms in candidate genes associated with fertilizing ability of sperm and subsequent embryonic development in cattle. Biol Reprod , 2013, 89(3): 69.
[7] Muñoz-Barrera M, Monje-Casas F. Increased Aurora B activity causes continuous disruption of kinetochore-microtubule attachments and spindle instability. Proc Natl Acad Sci USA , 2014, 111(38): E3996-E4005.
[8] Barbanis S, Ioannou M, Kouvaras E, Karasavvidou F, Nakou M, Papamichali R, Koukoulis G. INCENP (inner centromere protein) is overexpressed in high grade non- Hodgkin B-cell lymphomas. Pathol Oncol Res , 2009, 15(1): 11-17.
[9] Leblond GG, Sarazin H, Li RZ, Suzuki M, Ueno N, Liu XJ. Translation of incenp during oocyte maturation is required for embryonic development in Xenopus laevis . Biol Reprod , 2012, 86(5): 161.
[10] Hering DM, Olenski K, Kaminski S. Genome-wide association study for poor sperm motility in Holstein-Friesian bulls. Anim Reprod Sci , 2014, 146(3-4): 89-97.
[11] Wheatley SP, Kandels-Lewis SE, Adams RR, Ainsztein AM, Earnshaw WC. INCENP binds directly to tubulin and requires dynamic microtubules to target to the cleavage furrow. Exp Cell Res , 2001, 262(2): 122-127.
[12] Resnick TD, Dej KJ, Xiang YB, Hawley RS, Ahn C, Orr-Weaver TL. Mutations in the chromosomal passenger complex and the condensin complex differentially affect synaptonemal complex disassembly and metaphase I configuration in Drosophila female meiosis. Genetics , 2009, 181(3): 875-887.
[13] Zhuang XJ, Huang J, Jin XH, Yu Y, Li JS, Qiao J, Liu P. Chromosome aberrations and spermatogenic disorders in mice with Robertsonian translocation (11; 13). Int J Clin Exp Pathol , 2014, 7(11): 7735-7743.
[14] Zhang X, Wang C, Zhang Y, Ju Z, Qi C, Wang X, Huang J, Zhang S, Li J, Zhong J, Shi F. Association between an alternative promoter polymorphism and sperm deformity rate is due to modulation of the expression of KATNAL1 transcripts in Chinese Holstein bulls. Anim Genet , 2014, 45(5): 641-651.
[15] Rasal KD, Shah TM, Vaidya M, Jakhesara SJ, Joshi CG. Analysis of consequences of non-synonymous SNP in feed conversion ratio associated TGF-β receptor type 3 gene in chicken. Meta Gene , 2015, 4: 107-117.
[16] Ju ZH, Zheng X, Huang JM, Qi C, Zhang Y, Li JB, Zhong JF, Wang CF. Functional characterization of genetic polymorphisms identified in the promoter region of the bovine PEPS gene. DNA Cell Biol , 2012, 31(6): 1038-1045.
[17] Alvarado-Arnez LE, Amaral EP, Sales-Marques C, Durães SMB, Cardoso CC, Sarno EN, Pacheco AG, Lana FCF, Moraes MO. Association of IL10 polymorphisms and leprosy: a Meta-analysis. PLoS One , 2015, 10(9): e0136282.
[18] de Ca
