Abstract. The paired-like homeodomain 2 (PITX2) gene plays a critical role in
regulating development, reproduction, and growth traits in ruminants. Hence,
the objective of this study was to explore the polymorphisms of this gene and
to evaluate their associations with quantitative traits. Herein, a novel
insertion in the promoter region of the PITX2 gene was reported in
Shaanbei white cashmere (SBWC) goats (n=1012). The genotype distributions
between mothers of single-kid and multi-kid groups within SBWC goats were
significantly different (P<0.01), implying that this indel mutation might
affect the litter size. Furthermore, association analysis found that this
indel mutation was significantly associated with litter size (P=0.001).
Individuals with genotype DD had a significantly smaller litter size than
those with other genotypes (P<0.01). Besides, this indel was significantly
associated with the body length (P=0.042) and the chest width (P=0.031). Especially, the individuals with genotype DD had a significantly
lower body length than those with genotype II (P<0.05), which was
consistent with the trend in litter size. These findings suggested that the
new 22 bp indel mutation within the PITX2 gene is significantly
associated with litter size and growth traits; this can be utilized as a
functional molecular marker in goat breeding.