Genetic variants and effects on milk traits of the caprine paired-like homeodomain transcription factor 2 (PITX2) gene in dairy goats

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• 作者：Haiyu Zhao ; Xianfeng Wu ; Hanfang Cai ; Chuanying Pan ; Chuzhao Lei ; Hong Chen ; Xianyong Lan
• 关键词：PITX ; paired-like homeodomain transcription factor ; PITX2 ; paired-like homeodomain transcription factor 2 ; PITX1 ; paired-like homeodomain transcription factor 1 ; GH ; growth hormone ; PRL ; prolactin ; TSH ; thyrotropic-stimulating hormone ; TSH-beta ; thyroid stimulating hormone beta ; CPHD ; combined pituitary hormone deficiency ; WNT ; wingless-type MMTV integration site family ; Pit-1 (POU1F1) ; pituitary specific transcription factor 1 ; PROP1 ; prophet of Pit-1 ; LHX3 ; LIM homeobox 3 gene ; LHX4 ; LIM homeo
• 刊名：Gene
• 出版年：15 December, 2013
• 年：2013
• 卷：532
• 期：2
• 页码：203-210
• 全文大小：1039 K

文摘

The paired-like homeodomain transcription factor 2 (PITX2) gene plays a critical role in cell proliferation, differentiation, hematopoiesis and organogenesis. This gene regulates several genes' expressions in the Wnt/beta-catenin and POU1F1 pathways, thereby probably affecting milk performance. The goal of this study was to characterize the genetic variants of the PITX2 gene and test their associations with milk traits in dairy goats. Herein, four novel single nucleotide polymorphisms (SNPs), AC_000163:g.18117T>C, g.18161C>G, g.18322C>A and g.18353T>C, within the caprine PITX2 gene, were found in two famous Chinese dairy goat breeds. These SNPs mapping at Cys28Arg, Pro42Pro, IVS1+79C>A and IVS1+110T>C, were genotyped by the MvaI, SmaI, MspI and RsaI aCRS-RFLP or PCR-RFLP methods, respectively. Accordingly, two main haplotypes (CGCT and CGCC) were identified among the specimens. Association testing revealed that the SmaI and RsaI polymorphisms were significantly associated with the milk fat content, milk lactose content and milk density (P < 0.05 or P < 0.01) in the Guanzhong (GZ) dairy goats, respectively. At the same time, the RsaI locus was also found to significantly link to the second lactation milk yield, milk fat content, milk lactose content, milk density and milk total solid content (P < 0.05 or P < 0.01) in the Xinong Saanen (XNSN) dairy goats, respectively. These results indicated that the caprine PITX2 gene had the significant effects on milk traits. Hence, the RsaI and SmaI loci could be regarded as two DNA markers for selecting superior milk performance in dairy goats. These preliminary findings not only would extend the spectrum of genetic variation of the goat PITX2 gene, but also would contribute to implementing marker-assisted selection (MAS) in breeding and genetics in dairy goats.