Structural analysis and mutation detection strategy for the human LAMC3 gene.
Laminins are heterotrimeric extracellular matrix molecules, present in a wide range of basement membranes within human tissues. They consist of a combination of different alpha, beta, and gamma subunits. Three different gamma subunits have been described to date. Two of them, the gamma1 and gamma2 chains are constituents of basement membrane related laminins, while the gamma3 chain was detected in skin, heart, lung, reproductive tract, brain, and in the retina. Unlike other laminins, the expression of the gamma3 chain was localized to peripheral nerves and to the apical surface of ciliated epithelial cells and in the retina. To further investigate the function and the possible pathogenic role of laminin gamma3 in human disease, we elucidated the structure of the corresponding LAMC3 gene which encodes this polypeptide. Here we report the genomic organization of the LAMC3 gene and a mutation detection strategy for use in genetic studies.
Cserhalmi-Friedman
P B
PB
Department of Dermatology, Columbia University, 630 West 168th Street VC-1526, New York, New York 10032, USA.
Olson
P F
PF
Koch
M
M
Champliaud
M F
MF
Brunken
W J
WJ
Burgeson
R E
RE
Christiano
A M
AM
D019943:Amino Acid Substitution; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D017931:DNA Primers; D005091:Exons; D006801:Humans; D007438:Introns; D007797:Laminin / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid
D017931:DNA Primers; C504218:LAMC3 protein, human; D007797:Laminin; D004247:DNA