Cilia and flagella associated protein 43 (CFAP43) gene, also known as WDR96, is widely expressed in gonadal tissues. The mutation of this gene is the cause of multiple morphological abnormalities and is related to male and female infertility. This work aimed to further clarify the correlation between novel mutation within CFAP43 gene and litter size in Shaanbei white cashmere goat population. In this study, we detected three putative InDel variants within CFAP43 gene, and ANOVA analysis indicated that a novel 4-bp insertion mutation in intron 7 was significantly associated with goat litter size (P = 0.001). This locus contained three genotypes and was of medium genetic diversity. Meanwhile, DD genotype exhibited more superior litter size trait than ID carrier (P < 0.05). The chi-square test showed there was a significant difference in genotype distribution between the mothers of single lamb and the mothers of multi-lamb (P = 0.006). In summary, our findings suggested the 4-bp insertion within CFAP43 gene could act as a molecular marker to contribute to improving goat litter size in the breeding program.

纤毛和鞭毛相关蛋白43（CFAP43）基因，也称为WDR96，在性腺组织中广泛表达。该基因的突变是多种形态异常的原因，与男女不育有关。本工作旨在进一步阐明陕北白绒山羊CFAP43基因新突变与产仔数的相关性。在这项研究中，我们在CFAP43基因中检测到三个推定的 InDel 变异，方差分析表明内含子 7 中的一个新的 4-bp 插入突变与山羊产仔数显着相关（P= 0.001）。该基因座包含三个基因型，具有中等遗传多样性。同时，DD基因型表现出比ID携带者更优越的窝产仔数性状（P < 0.05）。卡方检验显示单羔母与多羔母基因型分布存在显着差异（P = 0.006）。总之，我们的研究结果表明CFAP43基因内的 4 bp 插入可以作为分子标记，有助于提高育种计划中的山羊产仔数。