OMIA 001677-9615 : Epidermolysis bullosa, junctionalis, LAMA3-related in Canis lupus familiaris

In other species: horse , cattle

Possibly relevant human trait(s) and/or gene(s) (MIM number): 226700

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2005

Cross-species summary: Blisters in and around the mouth and on the limbs, leading in the latter case to separation of the hoof from the corium (dermis), resulting in inability to stand.

Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Capt et al. (2005) were able to report that "The condition is associated with reduced expression of laminin 5 caused by a homozygous insertion (4818+207ins6.5 kb) of repetitive satellite DNA within intron 35 of the gene (LAMA3) for the laminin alpha3 chain. The intronic mutation interferes with maturation of the alpha3 pre-messenger RNA resulting in the coexpression of a transcript with a 227 nucleotide insertion and a wild-type mRNA that encodes scant amounts of the alpha3 polypeptide."

Breed: German pointer.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
LAMA3 laminin, alpha 3 Canis lupus familiaris 7 NC_006589.3 (64654910..64405719) LAMA3 Homologene, Ensembl, NCBI gene

Variants

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 required column headers

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
German pointer Epidermolysis bullosa, junctionalis, LAMA3 LAMA3 insertion, gross (>20) "insertion (4818+207ins6.5 kb) of repetitive satellite DNA within intron 35 of the gene (LAMA3)" 2005 15737193

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.
2005 Capt, A., Spirito, F., Guaguere, E., Spadafora, A., Ortonne, J.P., Meneguzzi, G. :
Inherited junctional epidermolysis bullosa in the German Pointer: establishment of a large animal model. J Invest Dermatol 124:530-5, 2005. Pubmed reference: 15737193. DOI: 10.1111/j.0022-202X.2004.23584.x.
2003 Guaguere, E., Capt, A., Spirito, F., Meneguzzi, G. :
Junctional epidermolysis bullosa in the german shorthaired pointer: a spontaneous model for junctional epidermolysis bullosa in man Bull Acad Vet France 157:47-51, 2003.
1997 Nagata, M., Iwasaki, T., Masuda, H., Shimizu, H. :
Non-lethal junctional epidermolysis bullosa in a dog British Journal of Dermatology 137:445-449, 1997. Pubmed reference: 9349347.
Olivry, T., Poujadedelverdier, A., Dunston, S.M., Fine, J.D., Ortonne, J.P. :
Absent expression of collagen xvii (BPAG2, BP180) in canine familial localized junctional epidermolysis bullosa Veterinary Dermatology 8:203-212, 1997.

Edit History


  • Created by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 21 Oct 2012