OMIA:002230-9913 : Hypotrichosis, HEPHL1-related in Bos taurus
Categories: Integument (skin) phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 261990 (trait) , 618455 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2012
Cross-species summary: Also known as Hairless
Mapping: Kuca et al. (2021): "A genome-wide association study using Swiss and US Belted Galloway cattle encompassing 12 cases and 61 controls revealed an association signal on chromosome 29".
Molecular basis: In a conference abstract, Marron and Beever (2012) reported the causal mutation of hypotrichosis in Belted Galloway cattle to be "an A1684T substitution in exon 9 of hephaestin-like 1 (HEPHL1) resulting in a premature stop codon (K562X)". They further noted that "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."
A full account of the discovery by Kuca et al. (2021) included details of the likely causal variant, namely chr29: g.721234A>T; c.1684A>T; p.Lys562*.
Clinical features: Kuca et al. (2021): "On clinical examination, the Swiss calf was found to be clinically healthy except for the skin abnormalities. Particular clinical examination of the cardiovascular, respiratory, genitourinary, musculoskeletal, and nervous systems showed no abnormalities. Moreover, no abnormalities in dentition were noticed as previously seen in cattle affected by ectodermal dysplasia characterized by sparse hair and abnormal teeth . . . . The integumentary system examination revealed multiple small to large areas of alopecia on the limbs and the dorsal part of the head, neck, and back . . . . The largest alopecic lesions were located on the lateral and medial aspects of the tarsal joints and the dorsal aspect of the fetlock and carpal joints. Moderate scaling was also present on the dorsal aspect of the head and neck. Excoriations were also present on the dorsal aspect of the fetlock and carpal joints and the lateral aspect of the tarsal joints. There was no evidence of erythema, pruritus, crusting, or thickening of the skin."
Breed: Belted Galloway (Cattle) (VBO_0000142).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|HEPHL1||hephaestin like 1||Bos taurus||29||NC_037356.1 (770614..679014)||HEPHL1||Homologene, Ensembl , NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|296||Belted Galloway (Cattle)||Hypotrichosis||HEPHL1||nonsense (stop-gain)||Naturally occurring variant||ARS-UCD1.2||29||g.721234T>A||c.1684A>T||p.(K562*)||NC_037356.1 (ARS-UCD1.2 assembly, chromosome 29): g.721234A>T; NM_001192511.2 c.1684A>T; NP_001179440.1: p.Lys562* (Kuca et al., 2021)||2021||33926013|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2021||Kuca, T., Marron, B.M., Jacinto, J.G.P., Paris, J.M., Gerspach, C., Beever, J.E., Drögemüller, C. :|
|A nonsense variant in Hephaestin Like 1 (HEPHL1) is responsible for congenital hypotrichosis in Belted Galloway cattle. Genes (Basel) 12:643, 2021. Pubmed reference: 33926013 . DOI: 10.3390/genes12050643.|
|2019||Zepeda-Batista, J.L., Parra-Bracamonte, G.M., Núñez-Domínguez, R., Ramírez-Valverde, R., Ruíz-Flores, A., Zepeda-Batista, J.L., Parra-Bracamonte, G.M., Núñez-Domínguez, R., Ramírez-Valverde, R., Ruíz-Flores, A. :|
|Screening genetic diseases prevalence in Braunvieh cattle. Trop Anim Health Prod 51:25-31, 2019. Pubmed reference: 30014197 . DOI: 10.1007/s11250-018-1655-y.|
|2012||Marron, B., Beever, J.E. :|
|A mutation in Hephaestin-Like 1 (HEPHL1) is responsible for hypotrichosis in Belted Galloway cattle. Plant & Animal Genome (PAG) XX :Abstract P0559, 2012.|
- Created by Frank Nicholas on 28 Jan 2020
- Changed by Frank Nicholas on 21 May 2021