OMIA 000540-9913 : Hypotrichosis in Bos taurus

In other species: domestic cat , dog , rabbit , sheep , American mink , meadow voles , golden hamster , macaques , domestic guinea pig , Mongolian gerbil , pig , bottlenosed dolphin , long-beaked common dolphin , beluga whale , Indo-Pacific finless porpoise , Yangtze River dolphin , minke whale , Omura's baleen whale

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 146520 , 146550 , 183849 , 211370 , 246500 , 250460 , 278200

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

Molecular basis: 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."

Genetic testing: A DNA test is available for this disorder. For further information, see http://www.agrigenomicsinc.com/species.html

Breed: Belted Galloway.

Associated gene:

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

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Belted Galloway Hypotrichosis HEPHL1 nonsense (stop-gain) UMD 3.1 29 g.695072A>T c.1684A>T p.K562* 2012 Reference not in PubMed; see OMIA 000540-9913 for reference details Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

References


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.
2018 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 :, 2018. Pubmed reference: 30014197. DOI: 10.1007/s11250-018-1655-y.
2016 Reinartz, S., Schwittlick, U., Seehusen, F., Distl, O. :
[Congenital and lethal semi-hairlessness in an Angler-Holstein crossbred calf]. Berl Munch Tierarztl Wochenschr 129:177-84, 2016. Pubmed reference: 27169157.
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.
2008 Jolly, RD., Wills, JL., Kenny, JE., Cahill, JI., Howe, L. :
Coat-colour dilution and hypotrichosis in Hereford crossbred calves. N Z Vet J 56:74-7, 2008. Pubmed reference: 18408794. DOI: 10.1080/00480169.2008.36812.
1995 Stober, M., Weitze, K.F., Hoedemaker, M., Pohlenz, J., Liebler, E., Wurm, S., Harlizius, B., Treviranus, A., Sissoko, J. :
Congenital hypotrichosis in Holstein-Friesian calves Tierarztliche Umschau 50:224, 1995.
1984 Bracho, GA., Beeman, K., Johnson, JL., Leipold, HW. :
Further studies of congenital hypotrichosis in Hereford cattle. Zentralbl Veterinarmed A 31:72-80, 1984. Pubmed reference: 6426206.
1979 Jayasekara, MU., Leipold, HW., Cook, JE. :
Pathological changes in congenital hypotrichosis in Hereford cattle. Zentralbl Veterinarmed A 26:744-53, 1979. Pubmed reference: 119384.
1967 Schleger, AV., Thompson, BJ., Hewetson, RW. :
Histopathology of hypotrichosis in calves. Aust J Biol Sci 20:661-8, 1967. Pubmed reference: 6067904.
1965 Maijala, K., Lindstrom, G. :
On the relation between blood group genes and a lethal gene for hairlessness and prolonged gestation Proceedings of the Ninth European Animal Blood Grouping Conference, Prague :461-462, 1965.
1963 Hutt, F.B. :
A note on six kinds of genetic hypotrichosis in cattle Journal of Heredity 54:186-187, 1963.
1953 Young, J.G. :
A note on the occurrence of an epithelial defect in a grade Hereford herd Australian Veterinary Journal 29:298-300, 1953.
1950 Drieuz, H. :
Hypotrichose congenitale avec anodontie acerie et marcoglossie chez le veau Recueil de Medecine Veterinaire 126:385-399, 1950. Pubmed reference: 14781414.
1934 Craft, W.A., Blizzard, W.L. :
The inheritance of semihairlessness in cattle Journal of Heredity 25:285-290, 1934.
Hutt, F.B. :
Inherited lethal characters in domestic animals Cornell Veterinarian 24:1-25, 1934.

Edit History


  • Created by Frank Nicholas on 30 Mar 2011
  • Changed by Frank Nicholas on 19 Jan 2012