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- Title
Genomic structure and eight novel exonic polymorphisms of the human N-cadherin gene.
- Authors
Harada, H.; Kimura, A.; Fukino, K.; Yasunaga, S.; Nishi, H.; Emi, M.
- Abstract
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.
- Subjects
GENOMES; GENETIC polymorphisms; HUMAN genetics
- Publication
Journal of Human Genetics, 2002, Vol 47, Issue 6, p330
- ISSN
1434-5161
- Publication type
Article
- DOI
10.1007/s100380200045