A novel 4-bp insertion within the goat CFAP43 gene and its association with litter size

Abstract

• A 4-bp deletion ( CFAP43-P2 ) and a 4-bp insertion ( CFAP43-P3 ) were identified within the goat CFAP43 gene. • CFAP43 -P3 was significantly associated with goat litter size ( P = 0.001). • DD genotype of CFAP43 -P3 exhibited more superior litter size trait compared with ID. 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.