OMIA:001948-9913 : Epidermolysis bullosa, junctionalis, ITGB4-related in Bos taurus (taurine cattle)
In other species: sheep
Categories: Integument (skin) phene
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: 2015
Cross-species summary: Also known as Epidermolysis bullosa, junctional, non-Herlitz type
Mapping: Searching for regions of extended homozygosity in the affacted calf enabled Peters et al. (2015) to map this disorder to "a 54.7 Mb interval from 7.6 to 62.3 Mb" on chromosome BTA19. This region contains four comparative candidate genes, including ITGB4 (see below).
Molecular basis: By whole-genome sequencing a single affected Charolais calf, and concentrating on comparative functional candidate genes based on careful diagnosis, Peters et al. (2015) identified the causative mutation to be "a 4.4 kb deletion involving exons 17 to 22" of the ITGB4 gene. The authors noted that "The transcript of the mutant allele lacked information regarding a significant part of the encoded protein since the deletion led to a frameshift and a premature stop codon. It was therefore assumed that the mutant transcripts probably underwent nonsense mediated decay so that, in the final analysis, the deletion represented a loss-of-function mutation with a non-existing integrin protein in the epidermis of the affected animal." Genotyping of 162 Charolais from the same herd confirmed the association between this deletion and the disorder.
Michot et al. (2015) independently mapped the disorder in Charolais and identified the same causal mutation.
Have human generated variants been created, e.g. through genetic engineering and gene editing
Charolais (Cattle) (VBO_0000177).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ITGB4||integrin subunit beta 4||Bos taurus||19||NC_037346.1 (55872521..55840150)||ITGB4||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|
|684||Charolais (Cattle)||Epidermolysis bullosa, junctionalis, ITGB4||ITGB4||deletion, gross (>20)||Naturally occurring variant||19||"a 4.4 kb deletion involving exons 17 to 22" of the ITGB4 gene||2015||25890340|
Cite this entry
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.
|2015||Michot, P., Fantini, O., Braque, R., Allais-Bonnet, A., Saintilan, R., Grohs, C., Barbieri, J., Genestout, L., Danchin-Burge, C., Gourreau, J.M., Boichard, D., Pin, D., Capitan, A. :|
|Whole-genome sequencing identifies a homozygous deletion encompassing exons 17 to 23 of the integrin beta 4 gene in a Charolais calf with junctional epidermolysis bullosa. Genet Sel Evol 47:37, 2015. Pubmed reference: 25935160. DOI: 10.1186/s12711-015-0110-z.|
|Peters, M., Reber, I., Jagannathan, V., Raddatz, B., Wohlsein, P., Drögemüller, C. :|
|DNA-based diagnosis of rare diseases in veterinary medicine: a 4.4 kb deletion of ITGB4 is associated with epidermolysis bullosa in Charolais cattle. BMC Vet Res 11:48, 2015. Pubmed reference: 25890340. DOI: 10.1186/s12917-015-0366-0.|
|2004||Guaguere, E,, Berg, K., Degorce-Rubioales, F. , Spadafora, A., Meneguzzi, G. :|
|FC-26 Junctional epidermolysis bullosa in a Charolais calf with deficient expression of integrin α6β4 (abstract) Veterinary Dermatology 15(Suppl. 1):28 only, 2004. DOI: 10.1111/j.1365-3164.2004.411_26.x.|
- Created by Frank Nicholas on 24 Mar 2015
- Changed by Frank Nicholas on 24 Mar 2015
- Changed by Frank Nicholas on 17 May 2015