Titre du document / Document title

Cloning of the β3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa

Auteur(s) / Author(s)

PULLKINEN L. ⁽¹⁾ ; GERECKE D. R. ; CHRISTIANO A. M. ⁽¹⁾ ; WAGMAN D. W. ; BURGESON R. E. ; UITTO J. ⁽¹⁾ ;

Affiliation(s) du ou des auteurs / Author(s) Affiliation(s)

⁽¹⁾ Thomas Jefferson univ., Jefferson inst. molecular medicine, dep. dermatology, Philadelphia PA 19107, ETATS-UNIS

Résumé / Abstract

Laminin 5 consists of three polypeptides, α3, β3, and γ2, encoded by the genes LAMA3, LAMB3, and LAMC2, respectively. In this study, we have elucidated the exon-intron organization of the human LAMB3 gene. Characterization of five overlapping λ phage DNA clones revealed that the gene was approximately 29 kb in size. Subsequent sequence data revealed that the gene consisted of 23 exons that varied from 64 to 379 bp in size, accounting for the full-length cDNA with an open reading frame of 3516 bp encoding 1172 amino acids. Comparison of the LAMB3 gene structure with the previously characterized LAMB1 gene revealed that LAMB3 was considerably more compact. Knowledge of the exon-intron organization of the LAMB3 gene will facilitate elucidation of mutations in patients with the junctional forms of epidermolysis bullosa, some of which have been associated with mutations in the laminin 5 genes

Revue / Journal Title

Genomics   ISSN 0888-7543 

Source / Source

1995, vol. 25, n^o1, pp. 192-198 (1 p.)

Langue / Language

Anglais

Editeur / Publisher

Elsevier, San Diego, CA, ETATS-UNIS  (1987) (Revue)

Mots-clés anglais / English Keywords

Human ; Laminin ; Gene ; Chromosome DNA ; Nucleotide sequence ; Gene organization ; Homology ; Epidermolysis bullosa ; Glycoproteins ; Skin disease ; Bullous dermatosis ; Autoimmune disease ; Immunopathology ;

Mots-clés français / French Keywords

Homme ; Laminine ; Gène ; DNA chromosomique ; Séquence nucléotide ; Organisation gène ; Homologie ; Epidermolyse bulleuse ; Glycoprotéine ; Peau pathologie ; Dermatose bulleuse ; Maladie autoimmune ; Immunopathologie ;

Mots-clés espagnols / Spanish Keywords

Hombre ; Laminina ; Gen ; DNA cromosómico ; Secuencia nucleótido ; Organización gene ; Homología ; Epidermólisis bulosa ; Glicoproteina ; Piel patología ; Dermatosis bulosa ; Enfermedad autoinmune ; Inmunopatología ;

Localisation / Location

INIST-CNRS, Cote INIST : 21389, 35400005963708.0230