title: The gene for autosomal dominant polycystic kidney disease lies in a 750-kb CpG-rich region.
abstract: PKD1, the locus most commonly affected by mutations that produce autosomal dominant polycystic kidney disease (ADPKD), has previously been localized to chromosome 16p13.3. Since no cytogenetic abnormalities have been found in association with ADPKD, flanking genetic markers have been required to define an interval--the PKD1 region--that contains the PKD1 gene. In this report we demonstrate, through the construction of a long-range restriction map that links the flanking genetic markers GGG1 (D16S84) and 26.6PROX (D16S125), that the PKD1 gene lies within an extremely CpG-rich 750-kb segment of chromosome 16p13.3. Approximately 90% of this region has been cloned in three extensive cosmid/bacteriophage contigs. The cloned DNA is a valuable resource for identifying new closer flanking genetic markers and for isolating candidate genes from the region.
authors.affiliation: Department of Internal Medicine, Yale University School of Medicine, New Haven, Connecticut 06510.
authors.forename: G G
authors.initials: GG
authors.lastname: Germino
authors.forename: D
authors.initials: D
authors.lastname: Weinstat-Saslow
authors.forename: H
authors.initials: H
authors.lastname: Himmelbauer
authors.forename: G A
authors.initials: GA
authors.lastname: Gillespie
authors.forename: S
authors.initials: S
authors.lastname: Somlo
authors.forename: B
authors.initials: B
authors.lastname: Wirth
authors.forename: N
authors.initials: N
authors.lastname: Barton
authors.forename: K L
authors.initials: KL
authors.lastname: Harris
authors.forename: A M
authors.initials: AM
authors.lastname: Frischauf
authors.forename: S T
authors.initials: ST
authors.lastname: Reeders
mesh_terms: D002885:Chromosomes, Human, Pair 16; D003001:Cloning, Molecular; D015342:DNA Probes / Q000235:genetics; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D015226:Dinucleoside Phosphates / Q000032:analysis*; D016521:Electrophoresis, Gel, Pulsed-Field; D005799:Genes, Dominant / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics*; D006801:Humans; D006822:Hybrid Cells; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics*; D015183:Restriction Mapping
chemical_list: D015342:DNA Probes; D015252:Deoxyribonucleases, Type II Site-Specific; D015226:Dinucleoside Phosphates; D005819:Genetic Markers; C015772:CpG dinucleotide; C038565:GCGGCCGC-specific type II deoxyribonucleases