A novel missense (A79V) mutation of goat PROP1 gene and its association with production traits.

As a paired class homeodomain transcription factor, mutations of PROP1 (Prophet of POU1F1) are responsible for deficiencies of GH, PRL, TSH, LH and FSH. Regarding mutations of GH, PRL, and POU1F1 genes significantly associating with different production traits, PROP1 gene is a novel important candidate gene for detecting genetic variation and association analysis in marked-assist selection (MAS) program. Therefore, the objective of this study is to detect goat PROP1 gene mutation and its association with production traits. Herein, a novel mutation (AF453512:g.1795C>T) within PROP1 gene is revealed by PCR-SSCP and DNA sequencing methods, and genotyped by Hin6I PCR-RFLP method in 1,344 individuals belonging to eight goat breeds. Only two genotypes (CC and CT) are revealed and the frequencies of allele C go from 0.9014 to 1.000 in analyzed populations. The genetic diversity analysis reveals that all PIC values are less than 0.1619, implying that the Hin6I locus within PROP1 gene possesses low genetic diversity in goat. Furthermore, nucleotide sequence analysis shows that AF453512:g.1795C>T results in a missense amino acid (A79V). But, association analysis demonstrates no significant differences between different genotypes and production traits (such as body weight, cashmere yield, fiber length and wool thickness) of Inner Mongolia White Cashmere goat (P > 0.05), as well as no significant relationship between different genotypes and average milk yield (P > 0.05). Although Hin6I polymorphism can not be used as a molecular marker for production traits in MAS, the present work presents preliminary novel missense mutation which extends the spectrum of genetic variations of goat PROP1 gene and may benefit for considering its association with other biophysical and biochemical indexes.