Genomic structure and eight novel exonic polymorphisms of the human N-cadherin gene.
Analysis of the detailed genomic structure of human N-cadherin revealed that the 16-exon gene is more than 72 kb in length and that it consists of a mosaic of exons. Five repeated cadherin domains, a transmembrane domain, and a cytoplasmic domain are encoded by exons 4 to 13, 13 and 14, and 14 to 16, respectively. A search for molecular variants in the entire coding region in 96 Japanese individuals resulted in the identification of eight sequence polymorphisms including three CCT- or GCC-type trinucleotide repeat polymorphisms adjacent to the initiation codon and five other novel single-nucleoticle polymorphisms (SNPs) in the coding region. Three of the five SNPs accompanied an amino acid substitution: Ala118Thr, Ala826Thr, and Asn845Ser. Knowlege of the fine gene structure and eight novel polymorphisms will be useful for the genetic study of the role of N-cadherin in diseases involving cell adhesion in the brain and in cardiomyocytes.
Harada
Haruhito
H
Department of Molecular Biology, Institute of Gerontology, Nippon Medical School, 1-396 Kosugi-cho, Nakahara-ku, Kawasaki 211-8533, Japan. memi@nms.ac.jp
Kimura
Akinori
A
Fukino
Koichi
K
Yasunaga
Seikoh
S
Nishi
Hirofumi
H
Emi
Mitsuru
M
D001932:Brain Neoplasms / Q000235:genetics*; D015820:Cadherins / Q000235:genetics*; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D016022:Case-Control Studies; D017931:DNA Primers; D005091:Exons / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007564:Japan / Q000453:epidemiology; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D018911:Trinucleotide Repeats / Q000235:genetics*
D015820:Cadherins; D017931:DNA Primers