OMIA:002718-9913 : Epidermolysis bullosa, junctional, ITGA6-related in Bos taurus (taurine cattle) |
Categories: Integument (skin) phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 619817 (trait) , 147556 (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: 2023
Molecular basis: Boussaha et al. (2023): "Homozygosity mapping followed by analysis of the whole-genome sequences of two [affected Charolais] cases and 5031 control individuals enabled us to prioritize a splice donor site of ITGA6 (c.2160 + 1G > T; Chr2 g.24112740C > A) as the most compelling candidate variant. ... RT-PCR analyses revealed increased retention of introns 14 and 15 of the ITGA6 gene in a heterozygous mutant cow compared with a matched control. The mutant mRNA is predicted to cause a frameshift (ITGA6 p.I657Mfs1) that affects the assembly of the integrin α6β4 dimer and its correct anchoring to the cell membrane."
Genetic engineering:
Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: Boussaha et al. (2023) reported skin fragility in three Charolais calves. Clinical signs were milder compared to another form of epidermolysis bullosa in Charolais cattle (see: OMIA:001948-9913 : Epidermolysis bullosa, junctionalis, ITGB4-related in Bos taurus).
Breed:
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
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| ITGA6 | integrin subunit alpha 6 | Bos taurus | 2 | NC_037329.1 (24179353..24091592) | ITGA6 | Homologene, Ensembl , NCBI gene |
Variants
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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1577 | Charolais (Cattle) | Epidermolysis bullosa, junctional, ITGA6-related | ITGA6 | splicing | Naturally occurring variant | ARS-UCD1.2 | 2 | g.24112740C>A | c.2160+1G>T | p.(I657Mfs) | NM_001109981.1 | 2023 | 37308849 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002718-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2023 | Boussaha, M., Boulling, A., Wolgust, V., Bourgeois-Brunel, L., Michot, P., Grohs, C., Gaiani, N., Grivaud, P.Y., Leclerc, H., Danchin-Burge, C., Vilotte, M., Rivière, J., Boichard, D., Gourreau, J.M., Capitan, A. : |
| Integrin alpha 6 homozygous splice-site mutation causes a new form of junctional epidermolysis bullosa in Charolais cattle. Genet Sel Evol 55:40, 2023. Pubmed reference: 37308849. DOI: 10.1186/s12711-023-00814-1. |
Edit History
- Created by Imke Tammen2 on 15 Jun 2023
- Changed by Imke Tammen2 on 15 Jun 2023