OMIA:002229-9940 : Hypotrichosis, HR-related in Ovis aries
In other species: domestic cat , bottlenosed dolphin , long-beaked common dolphin , beluga whale , Indo-Pacific finless porpoise , Yangtze River dolphin , minke whale , Omura's baleen whale , pig
Categories: Integument (skin) phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 203655 (trait) , 602302 (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: 2003
Cross-species summary: Also known as Hairless
Species-specific name: 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 likely causal variant to be a nonsense mutation, namely "a C/T transition at position 1312" of the ovine HR gene, giving rise to p.Gln438Ter.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|HR||hair growth associated||Ovis aries||2||NC_056055.1 (43477833..43494705)||HR||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|
|319||Valle del Belice, Italy (Sheep)||Hypotrichosis||HR||nonsense (stop-gain)||Naturally occurring variant||Oar_rambouillet_v1.0||2||g.45703202C>T||c.1312C>T||p.(Q438*)||Oar_v3.1 position is g.43224867C>T||rs423413166||2003||12927087||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool. The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager, EMAI, NSW Department of Primary Industries.|
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.|
- Created by Frank Nicholas on 27 Jan 2020
- Changed by Frank Nicholas on 27 Jan 2020