title: Mapping of the human CP49 gene and identification of an intragenic polymorphic marker to allow genetic linkage analysis in autosomal dominant congenital cataract.
abstract: The CP49 protein is an intermediate filament protein expressed specifically in the lens fibre cells of the lens, where it is an important cytoplasmic structural component. Dominant-negative mutations in other intermediate filament proteins, such as keratins, cause disorders characterised by dense cytoplasmic aggregates in specific cell types. The CP49 gene is therefore a good candidate for dominantly inherited forms of cataract. To allow genetic linkage analysis of families with autosomal dominant cataract with respect to CP49, a highly polymorphic intragenic microsatellite marker for this gene has been developed. In addition, both low and high resolution radiation hybrid mapping of the CP49 gene has been completed, placing it very close to microsatellite marker D3S1290 on human chromosome 3q. Furthermore, using the intragenic CP49 microsatellite, linkage was excluded in four families with genetically uncharacterized forms of autosomal dominant congenital cataract.
authors.affiliation: Department of Biochemistry, University of Dundee, Dundee, DD1 5EH, United Kingdom.
authors.forename: J M
authors.initials: JM
authors.lastname: Carter
authors.forename: W H
authors.initials: WH
authors.lastname: McLean
authors.forename: S
authors.initials: S
authors.lastname: West
authors.forename: R A
authors.initials: RA
authors.lastname: Quinlan
mesh_terms: D001483:Base Sequence; D002386:Cataract / Q000151:congenital / Q000235:genetics*; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D017931:DNA Primers; D005136:Eye Proteins / Q000235:genetics*; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D010375:Pedigree; D011110:Polymorphism, Genetic
chemical_list: D017931:DNA Primers; D005136:Eye Proteins; D005819:Genetic Markers; D007381:Intermediate Filament Proteins; C084808:phakinin