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.

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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
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