Zhang X, Vuolteenaho R, Tryggvason K
Division of Matrix Biology, Department of Medical Biochemistry and Biophysics, Karolinska Institute, S-171 77 Stockholm, Sweden.
J Biol Chem. 1996 Nov 1;271(44):27664-9. doi: 10.1074/jbc.271.44.27664.
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.
我们已经确定了人类层粘连蛋白α2链基因（LAMA2）的结构和完整外显子大小模式，该基因已被证明在先天性肌营养不良中受到影响（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）。该基因超过260,000个碱基对，包含64个外显子。确定了所有外显子-内含子边界的序列。其中两个外显子，即外显子43和52，尺寸极小，分别为6个和12个碱基对。将人类LAMA2基因的外显子模式与果蝇LAMA基因的外显子模式进行比较，结果显示人类基因5'端的63个内含子位置中只有2个与果蝇基因（包含14个内含子）的内含子位置匹配。
