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PITX2 is expressed in and plays an important role in myocytes of mice, and it has effects on late myogenic differentiation in chickens. However, the expression profile and polymorphisms of PITX2 remain unclear in chickens. Therefore, the aim of the present study was to detect its expression and investigate single nucleotide polymorphisms (SNPs) within its exons and then to evaluate whether these polymorphisms affect body size as well as carcass traits in chickens. The expression analysis showed that the expression level of chicken PITX2 mRNA in the leg muscle and hypophysis was significantly higher (p &lt; 0.01) than those in other tissues. The results of polymorphisms analysis identified two SNPs (i.e., g.9830C &gt; T and g.10073C &gt; T) in exon 1 and 10 SNPs (i.e., g.12713C &gt; T, g.12755C &gt; T, g.12938G &gt; A, g. 3164C &gt; T, g.13019G &gt; A, g.13079G &gt; A, g.13285G &gt; A, g.13335G &gt; A, g.13726A &gt; G and g.13856C &gt; T) in exon 3, including four novel SNPs (i.e., g.9830C &gt; T, g.12713C &gt; T, g.12938G &gt; A and g.13856C &gt; T). In the loci of g.10073C &gt; T and g.12713C &gt; T, chickens with the CT genotype had the highest (p &lt; 0.05 or p &lt; 0.01) breast depth and breast angle, respectively. For the locus of g.13335G &gt; A, chickens with the GG genotype had the highest (p &lt; 0.05 or p &lt; 0.01) breast angle and shank circumference. For the locus of g.13726A &gt; G, chickens with the GG genotype had the highest breast width, fossil keel bone length and shank circumference. The locus of g.12713A &gt; G had significant effects on the PITX2 mRNA expression level in leg muscle. The H1H7 diplotype showed the highest shank circumference, and the H2H8 diplotype showed the highest breast muscle rate. The present research suggested that polymorphisms of the exons of the PITX2 gene were significantly associated with the body size and carcass traits of Wuliang Mountain Black-bone chickens and the PITX2 gene could be a potential candidate gene for molecular marker-aided selection in Wuliang Mountain Black-bone chickens and other chicken breeds.

Expression Analysis of the PITX2 Gene and Associations between Its Polymorphisms and Body Size and Carcass Traits in Chickens