OMIA 000540-9940 : Hypotrichosis in Ovis aries |
In other species:
domestic cat
,
cattle
,
dog
,
rabbit
,
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:
2003
Cross-species summary:
Also known as Hairless
Species-specific description:
Absence of all or part of the wool coat
Mapping:
Using FISH, Finocchiaro et al. (2008) physically mapped the HR locus in sheep to chromosome OAR2p21-22.
Molecular basis:
By cloning and sequencing a very likely comparative candidate gene (based on the homologous human and mouse disorder), Finocchiaro et al. (2003) discovered the causal mutation to be a nonsense mutation, namely "a C/T transition at position 1312" of the ovine HR gene, giving rise to p.Gln438Ter.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| HR | hair growth associated | Ovis aries | 2 | NC_019459.2 (43261429..43277486) | HR | Homologene, Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the required column headers
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Valle del Belice | Hypotrichosis | HR | nonsense (stop-gain) | Oar_v3.1 | 2 | g.43224867C>T | c. 1312C>T | p.Q438* | rs423413166 | 2003 | 12927087 | 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.
| 2008 | Finocchiaro, R., Castiglioni, B., Budelli, E., van Kaam, J.B., Portolano, B., Caroli, A., Pagnacco, G. : | |
| Chromosomal assignment of the ovine hairless (hr) gene by fluorescence insitu hybridization. Hereditas 145:258-61, 2008. Pubmed reference: 19076694. DOI: 10.1111/j.1601-5223.2008.02062.x. | ||
| 2003 | Finocchiaro, R., Portolano, B., Damiani, G., Caroli, A., Budelli, E., Bolla, P., Pagnacco, G. : | |
| The hairless (hr) gene is involved in the congenital hypotrichosis of Valle del Belice sheep Genetics Selection Evolution 35:S147-56, 2003. Pubmed reference: 12927087. DOI: 10.1051/gse:2003023. | ||
| 1992 | Mackie, J.T., Mcintyre, B. : | |
| Congenital Hypotrichosis in Poll Dorset Sheep Australian Veterinary Journal 69:146-147, 1992. Pubmed reference: 1642602. | ||
| 1966 | Dolling, C.H.S., Brooker, M.G. : | |
| A viable hypotrichosis in Poll Dorset sheep Journal of Heredity 57:87-90, 1966. Pubmed reference: 6006812. |
Edit History
- Created by Frank Nicholas on 15 Nov 2005
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 21 Sep 2012
- Changed by Frank Nicholas on 03 Nov 2013