TY - JOUR
T1 - Cloning of the β3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa
AU - Pulkkinen, Leena
AU - Gerecke, Donald R.
AU - Christiano, Angela M.
AU - Wagman, D. Wolfe
AU - Burgeson, Robert E.
AU - Uitto, Jouni
N1 - Funding Information:
This study was supported by USPHWNIH Grants POl-AR38923 and T32-07561 and by the Dermatology Foundation. Sequence data from this article have been deposited in GenBank under Accession Nos. U1774PU17760.
Funding Information:
We thank Tamara Alexander for skillful secreterial help. Dr. Christian0 is the recipient of the Society for Investigative Dermatology Research Career Development Award from the Dermatology Foundation.
PY - 1995/1/1
Y1 - 1995/1/1
N2 - 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.
AB - 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.
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U2 - 10.1016/0888-7543(95)80125-6
DO - 10.1016/0888-7543(95)80125-6
M3 - Article
C2 - 7774918
AN - SCOPUS:0028985542
SN - 0888-7543
VL - 25
SP - 192
EP - 198
JO - Genomics
JF - Genomics
IS - 1
ER -