P0559 A Mutation in Hephaestin-Like 1 (HEPHL1) is Responsible for Hypotrichosis in Belted Galloway Cattle

Brandy Marron , University of Illinois, Urbana, IL
Jonathan E. Beever , University of Illinois, Urbana, IL
Congenital hypotrichosis has been reported in several breeds of cattle including the Belted Galloway.  The hairless phenotype can vary in severity and is often observed on the face, legs and head.  Some animals may also exhibit reduced growth rates.  Affected calves are generally identified at birth or shortly thereafter.  DNA samples from 12 affected calves and 21 phenotypically normal individuals were genotyped using the Illumina® Bovine SNP50 BeadChip.  Both single locus and haplotype whole genome association analysis showed that SNPs located on bovine chromosome 29 (BTA29) were significantly associated with the hypotrichosis phenotype.  Homozygosity analysis revealed a critical region spanning approximately 770 Kb at the top of BTA29.  Possible candidate genes were sequenced to determine the causative mutation.  Sequence analysis revealed an A1684T substitution in exon 9 of hephaestin-like 1 (HEPHL1) resulting in a premature stop codon (K562X).  Subsequent genotyping showed all affected calves were homozygous for the point mutation.  Hephaestin-like 1 is responsible for copper ion transport.  Copper deficiency has been shown to cause anemia, poor immune function, slower growth rates and discolored or poor hair coats in cattle.  Currently, over 300 animals have been assayed with no phenotypically normal animals exhibiting the homozygous mutant genotype.