OMIA 001948-9940 : Epidermolysis bullosa, junctionalis, ITGB4-related in Ovis aries |
In other species:
cattle
Possibly relevant human trait(s) and/or gene(s) (MIM number):
147557
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Recessive
Considered a defect:
yes
Key variant known:
yes
Year key variant first reported:
2015
Cross-species summary:
Also known as Epidermolysis bullosa, junctional, non-Herlitz type
Mapping:
By conducting a GWAS on 20 affected, 28 related normal and 48 unrelated normal Churra sheep, each of which had been genotyped with the Illumina OvineSNP50 BeadChip (yielding 44,785 informative SNPs), Suárez-Vega et al. (2015) mapped this disorder to chromosome OAR11, in the vicinity of marker rs410387229 at 54,939,690 bp (OARv3.1). Subsequent homozygosity mapping narrowed the region to "an 868-kb homozygous segment, from 54,632,309–55,500,100 bp". This implicated a very likely comparative locational candidate gene, namely ITGB4.
Molecular basis:
Small deletion: "a 4-bp deletion within exon 33 of the ITGB4 gene (c.4412_4415del;[ OAR11:54,849,767–54,849,770 bp; Oar v3.1]). The c.4412_4415del mutation causes a frameshift resulting in a premature stop codon at position 1472 of the integrin β4 protein" (Suárez-Vega et al., 2015)
Breed:
Churra.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| ITGB4 | integrin beta 4 | Ovis aries | 11 | NC_019468.2 (54816348..54785666) | ITGB4 | Homologene, Ensembl, NCBI gene |
Variants
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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Churra | Epidermolysis bullosa, junctionalis, ITGB4 | ITGB4 | deletion, small (<=20) | Oar_v3.1 | 11 | g.54849767-54849770 | c.4412_4415del | 2015 | 25955497 |
Reference
| 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. |
Edit History
- Created by Frank Nicholas on 17 May 2015
- Changed by Frank Nicholas on 17 May 2015