title: cDNA sequence of the horse (Equus caballus) LAMA3 gene and characterization of two intronic SNP markers.
abstract: Laminins are large heterotrimeric basement membrane glycoproteins composed of alpha, beta and gamma chains. The Laminin 5 isoform has an alpha3beta3gamma2 composition and is essential for the adhesion of basal keratinocytes to the underlying epithelial basement membrane where it is mainly located. Mutations in the genes coding for the 3 chains have been associated with a severe skin blistering disease, Herlitz's junctional epidermolysis bullosa (JEB), observed in different species as man, dog, cat and horse. In this study, we report the sequence of the 5.2 kb horse laminin alpha 3 cDNA (LAMA3) as well as the detection of two intronic SNPs. These data will be useful to further identify causal mutations for the disease in this gene.
authors.affiliation: Laboratoire de Génétique biochimique et de Cytogénétique, Département de Génétique animale, Institut National de la Recherche Agronomique, Centre de Recherches de Jouy, 78352, Jouy-en-Josas Cedex, France. dmilenko@clerment.inra.fr
authors.forename: Dragan
authors.initials: D
authors.lastname: Milenkovic
authors.forename: Xavier
authors.initials: X
authors.lastname: Mata
authors.forename: Sead
authors.initials: S
authors.lastname: Chadi
authors.forename: Gérard
authors.initials: G
authors.lastname: Guérin
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D018076:DNA, Complementary / Q000235:genetics; D005091:Exons; D006736:Horses / Q000235:genetics*; D007438:Introns; D007797:Laminin / Q000235:genetics*; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide
chemical_list: D018076:DNA, Complementary; D007797:Laminin; C095567:laminin alpha 3