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

    January 2002 in “ Agritrop (Cirad) ”
    R. Finocchiaro, Baldassare Portolano, Giuseppe Damiani, A. Caroli, E. Budelli, P. Bolla, P. Pagnacco
    TLDR The hr gene is linked to hair loss in Valle del Belice sheep.
    The study investigated the involvement 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, a transversion A/T at position 739 and a transition G/A at position 823 were identified, leading to amino acid substitutions at positions 247 and 275. These nucleotide changes were highly correlated with the hypotrichotic alleles, suggesting the hr gene's role in the genetic control of this disorder. However, these mutations might not be causative but closely linked to the actual mutations responsible for the condition. Further research was needed to fully understand the pathogenic mechanism.
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