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