Characterization of the desmosomal cadherin gene family: Genomic organization of two desmoglein genes on human chromosome 18q12

The human desmoglein genes, desmogleins 1-3, are members of the desmosomal cadherin superfamily, and encode critical components of the desmosome. Thes e genes are tightly clustered within 150-200 kb of chromosome 18q12.1 and r epresent excellent candidate genes for genetic disorders of the epidermis l inked to this region of the genome. Mutations in desmoglein 1 have already been implicated in the genetic disorder striate palmoplantar keratoderma. S imilarly, a mutation in desmoglein 3 underlies the balding mouse phenotype, although no human mutations in desmoglein 3 have been identified to date. In this study, we have characterized the genomic organization of two of the three desmoglein genes mapped to chromosome 18q12. Comparison of their exo n-intron structure reveals the high level of evolutionary conservation expe cted from these related genes. The identification of the genomic structure of the desmoglein genes will facilitate mutation detection in genodermatose s with desmosomal abnormalities resulting from underlying defects in these genes.