Centre for Reproduction and Genomics, AgResearch Limited, Invermay Agricultural Centre, Mosgiel, New Zealand.
Biol Reprod. 2011 Jul;85(1):113-20. doi: 10.1095/biolreprod.110.090514. Epub 2011 Mar 17.
Sheep lines with mutations in single genes that have major effects on ovulation rate have been very useful in gaining a better understanding of pathways important in controlling follicular development and ovulation rate. To date however, all known mutations are in the transforming growth factor beta (TGFB) superfamily. Ovulation rates were measured in 720 progeny of 20 rams that were descendants of a single prolific ewe. Evaluation of ovulation rates of daughters of closely related sires suggests the presence of a segregating major gene Fecundity Davisdale (FECD) that increases ovulation rate between 0.4 and 0.8 in heterozygous daughters. Key features of mutations in genes of the TGFB superfamily pathway, such as synergistic interactions with other family members, infertility in homozygous carriers, and increased responsiveness to exogenous gonadotropins, were not observed in this line; thus, the mutation does not appear to be acting in the TGFB pathway. Hence, there is likely a novel mutation being carried in this line of sheep that alters ovulation rate. Future identification of the causative mutation may provide new insights into regulation of follicular development and ovulation rate.
具有影响排卵率的单基因突变的绵羊品系在更好地了解控制卵泡发育和排卵率的途径方面非常有用。然而,迄今为止,所有已知的突变都在转化生长因子β(TGFB)超家族中。在 20 只公羊的 720 只后代中测量了排卵率,这些公羊都是一只高产母羊的后代。对亲缘关系密切的公羊的女儿的排卵率进行评估表明,存在一个分离的主要基因 Fecundity Davisdale(FECD),它使杂合女儿的排卵率增加 0.4 到 0.8。在这条品系中没有观察到 TGFB 超家族途径中基因的突变的关键特征,例如与其他家族成员的协同作用、纯合子携带者的不育以及对外源促性腺激素的反应性增加;因此,该突变似乎不在 TGFB 途径中起作用。因此,这条绵羊品系可能携带了一种改变排卵率的新突变。未来确定致病突变可能为卵泡发育和排卵率的调控提供新的见解。