A Nonsense Variant in Hephaestin Like 1 (HEPHL1) Is Responsible for Congenital Hypotrichosis in Belted Galloway Cattle

Figures

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  Figure 1. Congenital hypotrichosis in a Swiss Belted Galloway cattle. (a) Note the multiple areas of alopecia on the limbs and the dorsal part of the head. (b) Note the large alopecic lesions located on the neck and the dorsal aspect of the fetlock and carpal joints. Note also the excoriations on the dorsal aspect of the fetlock and carpal joints.

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  Figure 2. A region on chromosome 29, including the HEPHL1 gene, is associated with recessive congenital hypotrichosis in Belted Galloway cattle. (a) Manhattan plot for the GWAS using 12 HY-suspected calves and 61 control cattle is shown and indicates a signal with multiple associated SNPs on chromosome 29. Each chromosome is represented along the X-axis. The Y-axis represents the −log10 of the corrected empirical p-value. The red line indicates the Bonferroni-corrected significance with a −log10p = 5.88 (α = 0.05). (b) The quantile-quantile plots showing the observed vs. expected log p-values are shown. (c) Schematic representing the haplotypes of 12 HY-suspected calves on chromosome 29. The exact positions of the SNP markers are indicated above. (d) Gene content of the 1.5 Mb-sized critical regions located at the proximal end of the chromosome. Screenshot of NCBI Genome Data Viewer (ARS-UCD1.2 assembly, Bos taurus annotation release 106) shows the annotated genes and loci including HEPHL1 (red arrow).

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  Figure 3. HEPHL1 nonsense variant in Belted Galloway cattle affected by congenital hypotrichosis. (a) HEPHL1 gene structure showing the location of the exon 9 variant on cattle chromosome 29. (b) Electropherograms showing the different genotypes identified via Sanger sequencing. (c) Schematic representation of HEPHL1 wild-type protein with its functional domains and the mutant protein. The wild-type protein is 1157 amino acid residues in length. The mutant protein is expected to be 562 amino acid residues in length due to the premature induction of a stop codon. D, domain.