Endocrinol Metab Clin N Am 36(1):17–36īen-Batalla I, Seoane S, Macia M, Garcia-Caballero T, Gonzalez LO, Vizoso F, Perez-Fernandez R (2010) The Pit-1/Pou1f1 transcription factor regulates and correlates with prolactin expression in human breast cell lines and tumors. Mullis PE (2007) Genetics of growth hormone deficiency. Nelson C, Albert VR, Elsholtz HP, Lu LI, Rosenfeld MG (1988) Activation of cell-specific expression of rat growth hormone and prolactin genes by a common transcription factor. Simmons DM, Voss JW, Ingraham HA, Holloway JM, Broide RS, Rosenfeld MG, Swanson LW (1990) Pituitary cell phenotypes involve cell-specific Pit-1 mRNA translation and synergistic interactions with other classes of transcription factors. Li S, Crenshaw EB, Rawson EJ, Simmons DM, Swanson LW, Rosenfeld MG (1990) Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene pit-1. Woollard J, Tuggle CK, Ponce de León FA (2000) Localization of POU1F1 to bovine, ovine, and caprine 1q21–22. The Jining Grey goat does with nine genotypes analyzed of POU1F1 gene showed no obvious difference in litter size. The predominant haplotype was hap1 (35.29% and 48.25%) in both Jining Grey and Guizhou White goats, while hap4 (50%) in Boer goats, and hap2 (42.86% and 38.75%) in both Wendeng Dairy and Liaoning Cashmere goats. Four specific haplotypes (hap7, hap9, hap11 and hap13) were detected in Jining Grey goats. Three common haplotypes (hap2, hap3 and hap4) were identified in five goat breeds joined. Totally 16 haplotypes and 50 genotypes were identified at the above six loci in POU1F1 gene of five goat breeds. The present study preliminarily showed an association between allele T at the 256 and 682 loci of POU1F1 gene and high litter size in Jining Grey goats.
Regarding the 256 locus, the Jining Grey goat does with genotype CT had 0.66 kids more than those with genotype CC ( P < 0.05), while does with genotype GT had 0.63 ( P < 0.05) kids more than those with genotype GG at the 682 locus.
The 53 and 123 loci were in complete linkage disequilibrium in five caprine breeds. The former four mutations were novel SNPs in goat POU1F1 gene. The results showed that six mutations were identified in caprine POU1F1 gene including C256T in exon 3, C53T and T123G in intron 3, and G682T (A228S), T723G and C837T in exon 6. Seven pairs of primers were designed to amplify 5′ promoter region, six exons and partial introns and to detect the polymorphisms of POU1F1 gene in five goat breeds with different prolificacy.
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