Giesecke K, Hamann H, Stock K F, Woehlke A, Sieme H, Distl O
Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, 30559 Hannover, Germany.
Anim Genet. 2009 Aug;40(4):359-65. doi: 10.1111/j.1365-2052.2008.01844.x. Epub 2009 Feb 10.
Stallion fertility is an economically important trait because the use of artificial insemination is increasing in the horse industry and superior sires are used more intensely. Molecular genetic markers may be useful as early indicators for a stallion's fertility and genetic improvement programmes. The testis-specific SPATA1 protein is involved in shaping the sperm head during spermatogenesis. Thus, the spermatogenesis associated 1 (SPATA1) gene was chosen as candidate for stallion fertility, and we analysed intragenic single nucleotide polymorphisms (SNPs) as genetic markers for the least square means (LSM) of the pregnancy rate per oestrus of stallions and breeding values (BV) for the paternal and embryonic component of the pregnancy rate per oestrus. We sequenced the cDNA of SPATA1 to verify the annotated mRNA sequence. One SPATA1-associated intronic SNP (BIEC2-968854) showed a significant association with the embryonic component of BVs of stallions for the pregnancy rate per oestrus. The embryonic component of BVs was positively associated with homozygous C/C stallions. Both the additive and dominance effects were significant with values of -5.8% (P = 0.01) and -6.4% (P = 0.02) for the embryonic component of BVs. For the same SNP, a suggestive association was found for the LSM of the pregnancy rate per oestrus of stallions. Heterozygous stallions had higher pregnancy rates per oestrus than homozygous stallions. The dominance effect was 4.1% with a nominal P-value of 0.02. The SNP BIEC2-968854 can change an SP1 binding site and thus we assume that gene regulation may be influenced through this intronic mutation. This is the first report on SPATA1 being associated with the pregnancy rate per oestrus for stallions.
种公马的繁殖力是一个具有重要经济意义的性状，因为在马匹行业中人工授精的使用正在增加，优质种公马的使用也更加频繁。分子遗传标记可能作为种公马繁殖力和遗传改良计划的早期指标。睾丸特异性SPATA1蛋白在精子发生过程中参与精子头部的塑形。因此，选择精子发生相关1（SPATA1）基因作为种公马繁殖力的候选基因，我们分析了基因内单核苷酸多态性（SNP）作为种公马每次发情期妊娠率最小二乘均值（LSM）以及每次发情期妊娠率父本和胚胎成分育种值（BV）的遗传标记。我们对SPATA1的cDNA进行测序以验证注释的mRNA序列。一个与SPATA1相关的内含子SNP（BIEC2 - 968854）显示与种公马每次发情期妊娠率BV的胚胎成分有显著关联。BV的胚胎成分与纯合C/C种公马呈正相关。BV的胚胎成分的加性效应和显性效应均显著，分别为 - 5.8%（P = 0.01）和 - 6.4%（P = 0.02）。对于同一个SNP，在种公马每次发情期妊娠率的LSM方面发现了一个提示性关联。杂合种公马每次发情期的妊娠率高于纯合种公马。显性效应为4.1%，名义P值为0.02。SNP BIEC2 - 968854可以改变一个SP1结合位点，因此我们假设这种内含子突变可能会影响基因调控。这是关于SPATA1与种公马每次发情期妊娠率相关的首次报道。
