title: Genomic organization, amplification, fine mapping, and intragenic polymorphisms of the human hemidesmosomal tetraspanin CD151 gene.
abstract: CD151 is a member of the tetraspanin family that is involved in cellular processes including cell adhesion. The protein is expressed in a variety of tissues including vascular endothelium and epidermis, and has been shown to be a component of hemidesmosomes. Mutations in genes encoding other hemidesmosomal proteins give rise to a range of human disorders, characterized by fragility of the skin and/or mucous membranes. It is, therefore, plausible that inherited or acquired mutations in the gene encoding CD151 may be fundamental to the integrity and maturation of basal cell keratinocytes. To aid mutation analysis, we have characterized the intron-exon organization of the CD151 gene which comprises 8 exons spanning approximately 4.3 kb, and have developed a comprehensive PCR-based mutation detection strategy. In addition, to aid linkage analysis of CD151 in genetic disease we have fine-mapped the gene by radiation-hybrid methodology to 11p15.5, and detected a number of intragenic polymorphisms.
authors.affiliation: Epithelial Genetics Group, Human Genetics Unit, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, United Kingdom. nwhittoc@hgmp.mrc.ac.uk
authors.forename: N V
authors.initials: NV
authors.lastname: Whittock
authors.forename: W H
authors.initials: WH
authors.lastname: McLean
mesh_terms: D015703:Antigens, CD / Q000235:genetics*; D001483:Base Sequence; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons; D005787:Gene Frequency; D005796:Genes / Q000235:genetics*; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D021101:Radiation Hybrid Mapping; D017422:Sequence Analysis, DNA; D060185:Tetraspanin 24
chemical_list: D015703:Antigens, CD; C554715:CD151 protein, human; D060185:Tetraspanin 24; D004247:DNA