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Volume 61, issue 3 | Copyright
Arch. Anim. Breed., 61, 329-336, 2018
https://doi.org/10.5194/aab-61-329-2018
© Author(s) 2018. This work is distributed under
the Creative Commons Attribution 4.0 License.

Original study 09 Aug 2018

Original study | 09 Aug 2018

The novel 22 bp insertion mutation in a promoter region of the PITX2 gene is associated with litter size and growth traits in goats

Hailong Yan1,2,3,*, Enhui Jiang3,*, Haijing Zhu1,2, Linyong Hu4, Jinwang Liu1,2, and Lei Qu1,2 Hailong Yan et al.
  • 1Shaanxi Provincial Engineering and Technology Research Center of Cashmere Goats, Yulin University, Yulin 719000, China
  • 2Life Science Research Center, Yulin University, Yulin 719000, China
  • 3College of Animal Science and Technology, Northwest A&F University, Shaanxi Key Laboratory of Molecular Biology for Agriculture, Yangling, 712100 Shaanxi, China
  • 4Key Laboratory of Adaptation and Evolution of Plateau Biota, Northwest Institute of Plateau Biology, Chinese Academy of Sciences, Xining, Qinghai, 810001, China
  • *These authors contributed equally to this work.

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 22bp 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.

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As we all know, genes often influence physiological functions of animal organisms such as reproduction, growth, and development. This study explored a novel insertion of paired-like homeodomain 2 (PITX2) gene, and many methods of statistical analysis were used to evaluate their associations with traits of goats. Results indicated that this insertion was significantly associated with litter size, body length, and chest width of goats.
As we all know, genes often influence physiological functions of animal organisms such as...
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