Structure of the human laminin alpha2-chain gene (LAMA2), which is affected in congenital muscular dystrophy.
We have determined the structure and complete exon size pattern of the human laminin alpha2-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.
Zhang
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Division of Matrix Biology, Department of Medical Biochemistry and Biophysics, Karolinska Institute, S-171 77 Stockholm, Sweden. Karl.Tryggvason@mbb.ki.se
Vuolteenaho
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Tryggvason
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D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D004330:Drosophila; D005091:Exons; D015723:Gene Library; D006801:Humans; D007438:Introns; D007797:Laminin / Q000737:chemistry / Q000235:genetics*; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000235:genetics*; D015183:Restriction Mapping
D007797:Laminin