The Hairless (Hr) Gene Is Involved in the Congenital Hypotrichosis of Valle Del Belice Sheep

The study investigated the role of the hairless (hr) gene in congenital hypotrichosis in Valle del Belice sheep, a condition characterized by partial or complete absence of hair at birth. Blood samples from 50 sheep (30 normal and 20 hypotrichotic) were analyzed, revealing mutations in exon 3 of the hr gene associated with the hypotrichotic phenotype. Specifically, nucleotide changes at positions 739 and 823 were linked to amino acid substitutions in the protein. These findings suggested that the hr gene played a role in the genetic control of this condition, although the identified mutations might not be the direct cause but rather closely linked to the causative mutations. Further research was needed to fully understand the pathogenic mechanism.