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. These genes are tightly clustered within 150--200 kb of chromosome 18q12.1 and represent excellent candidate genes for genetic disorders of the epidermis linked to this region of the genome. Mutations in desmoglein 1 have already been implicated in the genetic disorder striate palmoplantar keratoderma. Similarly, 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 exon-intron structure reveals the high level of evolutionary conservation expected from these related genes. The identification of the genomic structure of the desmoglein genes will facilitate mutation detection in genodermatoses with desmosomal abnormalities resulting from underlying defects in these genes.
Frank
J
J
Department of Dermatology, Columbia University, New York, NY 10032, USA.
Cserhalmi-Friedman
P B
PB
Ahmad
W
W
Panteleyev
A A
AA
Aita
V M
VM
Christiano
A M
AM
D000818:Animals; D015820:Cadherins / Q000235:genetics*; D002417:Cattle; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D003598:Cytoskeletal Proteins / Q000235:genetics; D051183:Desmoglein 1; D051184:Desmoglein 3; D051182:Desmogleins; D051180:Desmoplakins; D003896:Desmosomes / Q000737:chemistry*; D019143:Evolution, Molecular; D005091:Exons / Q000235:genetics; D005796:Genes; D016147:Genes, Tumor Suppressor; D006201:Hair Diseases / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics; D019656:Loss of Heterozygosity; D051379:Mice; D005810:Multigene Family; D009260:Nail Diseases / Q000235:genetics; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012871:Skin Diseases / Q000235:genetics
D015820:Cadherins; D003598:Cytoskeletal Proteins; C495297:DSG1 protein, human; C071894:DSG3 protein, human; D051183:Desmoglein 1; D051184:Desmoglein 3; D051182:Desmogleins; D051180:Desmoplakins; C495299:Dsg1a protein, mouse; C495300:Dsg3 protein, mouse