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Volume 271, Number 44, Issue of November 1, 1996 pp. 27664-27669
©1996 by The American Society for Biochemistry and Molecular Biology, Inc.

Structure of the Human Laminin alpha 2-Chain Gene (LAMA2), Which Is Affected in Congenital Muscular Dystrophy

(Received for publication, June 12, 1996)

Xu Zhang Dagger § , Reetta Vuolteenaho § and Karl Tryggvason Dagger §

From the Dagger  Division of Matrix Biology, Department of Medical Biochemistry and Biophysics, Karolinska Institute, S-171 77 Stockholm, Sweden and the § Biocenter and Department of Biochemistry, University of Oulu, FIN-90570 Oulu, Finland

We have determined the structure and complete exon size pattern of the human laminin alpha 2-chain gene (LAMA2), which has been shown to be affected in congenital muscular dystrophy (Helbling-Leclerc, A., Zhang, X., Topaloglu, H., Cruaud, C., Tesson, F., Weissenbach, J., Tomé, F. M. S., Schwartz, K., Fardeau, M., Tryggvason, K., and Guicheney, P. (1995) Nat. Genet. 11, 216-218). The gene is over 260,000 base pairs and contains 64 exons. The sequence of all exon-intron borders was determined. Two of the exons, i.e. exons 43 and 52, are extremely small in size, 6 and 12 base pairs, respectively. Comparison of the exon pattern of the human LAMA2 gene with that of the Drosophila LAMA gene revealed that only 2 of 63 intron locations in the 5'-end of the human gene match the intron locations in the Drosophila gene, which contains 14 introns.


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