Structural analysis and mutation detection strategy for the human LamC3 gene

Laminins are heterotrimeric extracellular matrix molecules, present in a wi de range of basement membranes within human tissues. They consist of a comb ination of different alpha, beta, and gamma subunits. Three different gamma subunits have been described to date. Two of them, the gamma1 and gamma2 c hains are constituents of basement membrane related laminins, while the gam ma3 chain was detected in skin, heart, lung, reproductive tract, brain, and in the retina. Unlike other laminins, the expression of the gamma3 chain w as localized to peripheral nerves and to the apical surface of ciliated epi thelial cells and in the retina. To further investigate the function and th e possible pathogenic role of laminin gamma3 in human disease, we elucidate d the structure of the corresponding LAMC3 gene which encodes this polypept ide. Here we report the genomic organization of the LAMC3 gene and a mutati on detection strategy for use in genetic studies. (C) 2001 Academic Press.