Twelve novel SNPs of the goat POU1F1 gene and their associations with cashmere traits.

Abstract As a member of the POU-domain family, pituitary-specific transcription factor 1 ( POU1F1 ) is responsible for a phenotype of combined pituitary hormone deficiency (CPHD) involving growth hormone (GH), prolactin (PRL) and thyrotropin β subunit (TSH β ). Owing to PRL concentrations associated with wool growth and wool traits, the POU1F1 gene is a potential candidate gene for cashmere traits selection and breeding through marker-assisted selection (MAS). We used PCR–SSCP and DNA sequencing to screen for genetic variations of the unreported exons 1–5 and 5′-UTR within POU1F1 gene in 452 Inner Mongolian white cashmere goats. We report twelve novel SNPs within the goat POU1F1 gene, namely, IVS + 10G > T, EX3_113G > T resulting in Glu109His, EX3_114G > T resulting in Glu110ter, IVS3 + 8C > T, IVS3 + 41T > G, IVS3 + 41_42insT, IVS3 + 175T > A, EX4_53delA causing a frame shift in 164 aa, IVS4 + 710T > A, EX5_14G > A resulting in Glu206Glu, EX5_34G > A resulting in Arg213Lys, EX5_59G > A resulting in Arg218Lys. We establish the relationship between four polymorphic fragments within POU1F1 gene and two cashmere traits (greasy fleece weight, fiber length). Association analysis shows that two genotypes of P4 fragment are significantly associated with fiber length in the analyzed population ( P  = 0.031). Moreover, significant statistical associations of two genotypes of P6 fragment with greasy fleece weight ( P  = 0.048) are also found. Therefore, the goat POU1F1 gene has significant effects on greasy fleece weight and fiber length, suggesting that this gene is an important candidate gene for these traits and will contribute to cashmere goat breeding and genetics through MAS.