OMIA 001948-9940 : Epidermolysis bullosa, junctionalis, ITGB4-related in Ovis aries
Fabre et al. (2020) conducted whole genome sequencing of 2 unrelated affected French Mouton Vendeen lambs and 1 unaffected fullsib. Analysis of variants identified in 13 candidate genes “identified a novel SNP (OAR11_v4.0, g.54799925G>A) in exon 23 of the ITGB4 gene … whose variant allele causes a premature stop codon (p.Arg885*).” The variant segregated with the junctional epidermolysis bullosa phenotype in six affected lambs, 7 parents and 4 unaffected full-sib lambs (Fabre et al., 2020).Prevalence: Genotyping for the g.54799925G>A variant in the French Mouton Vendeen meat sheep breed identified estimated allele frequencies of 6.3% in renewal ewe lambs, 5.2% for service rams and 6% in adult ewes (Fabre et al., 2020). Breeds: Churra, Mouton Vendeen. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ITGB4||integrin beta 4||Ovis aries||11||NC_040262.1 (7395216..7427544)||ITGB4||Homologene, Ensembl, NCBI gene|
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 second, third etc relevant column headers.
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.
|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|
|Churra||Epidermolysis bullosa, junctionalis, ITGB4||ITGB4||deletion, small (<=20)||Oar_v3.1||11||g.54849767_54849770del||c.4412_4415del||2015||25955497|
|Mouton Vendeen||Epidermolysis bullosa, junctionalis, ITGB4||ITGB4||nonsense (stop-gain)||Oar_v4.0||11||g.54799925G>A||c.2653C>T||p.(Arg885*)||c.2653C>T position is based on mRNA XM_015098951.1||2020||33225458|
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.
|2020||Fabre, S., Chantepie, L., Plisson-Petit, F., Sarry, J., Woloszyn, F., Genet, C., Drouilhet, L., Tosser-Klopp, G. :|
|A novel homozygous nonsense mutation in ITGB4 gene causes epidermolysis bullosa in Mouton Vendéen sheep. Anim Genet :, 2020. Pubmed reference: 33225458. DOI: 10.1111/age.13026.|
|2015||Suárez-Vega, A., Gutiérrez-Gil, B., Benavides, J., Perez, V., Tosser-Klopp, G., Klopp, C., Keennel, S.J., Arranz, J.J. :|
|Combining GWAS and RNA-Seq Approaches for Detection of the Causal Mutation for Hereditary Junctional Epidermolysis Bullosa in Sheep. PLoS One 10:e0126416, 2015. Pubmed reference: 25955497. DOI: 10.1371/journal.pone.0126416.|
- Created by Frank Nicholas on 17 May 2015
- Changed by Frank Nicholas on 17 May 2015
- Changed by Imke Tammen2 on 30 Nov 2020