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. The paired-like homeodomain 2 (PITX2) gene plays a critical role inregulating development, reproduction, and growth traits in ruminants. Hence,the objective of this study was to explore the polymorphisms of this gene andto evaluate their associations with quantitative traits. Herein, a novelinsertion in the promoter region of the PITX2 gene was reported inShaanbei white cashmere (SBWC) goats ( n=1012 ). The genotype distributionsbetween mothers of single-kid and multi-kid groups within SBWC goats weresignificantly different ( P ), implying that this indel mutation mightaffect the litter size. Furthermore, association analysis found that thisindel mutation was significantly associated with litter size ( P=0.001 ).Individuals with genotype DD had a significantly smaller litter size thanthose with other genotypes ( P ). Besides, this indel was significantlyassociated with the body length ( P=0.042 ) and the chest width ( P=0.031 ). Especially, the individuals with genotype DD had a significantlylower body length than those with genotype II ( P ), which wasconsistent with the trend in litter size. These findings suggested that thenew 22 bp indel mutation within the PITX2 gene is significantlyassociated with litter size and growth traits; this can be utilized as afunctional molecular marker in goat breeding.

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The novel 22 bp insertion mutation in a promoter region of the &amp;lt;i&amp;gt;PITX2&amp;lt;/i&amp;gt; gene is associated with litter size and growth traits in goats