The novel missense mutation of goat LHX4 gene

As a member of the LIM homeobox gene family, LHX4 gene plays a critical role in pituitary gland and nervous system development. Mutations in the LHX4 gene are associated with CPHD diseases in human and animal models. To date, no polymorphisms of LHX4 gene in goats have been reported. Herein, PCR-SSCP and DNA sequencing methods were employed to screen the genetic variation within goat LHX4 gene in 1275 Chinese indigenous goats. The results revealed a novel mutation: XM_613195.3:m.1053G>A, which identified a missense mutation at LHX4 locus: GTT (Val)>ATT (Ile) at position 280 aa of the LHX4 (390 aa). Moreover, frequencies of LHX4-A allele in the analyzed populations were 0.662, 0.553, 0.912, 0.957, 0.846, 0.693, 0.950 and 0.757 for Inner Mongolia white cashmere, Shaanbei white cashmere, Laoshan, Xinong Sannen, Guanzhong, Boer, Haimen and Xuhuai populations, respectively. Gene homozygosity varied from 0.506 to 0.917. Significant statistical differences of genotypic frequencies for exon 6 of LHX4 locus implied that the V280I locus significantly associated with goat breeds by χ2-test (P < 0.001).