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Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disorder that frequently results in renal failure due to progressive cyst development. The major locus, PKD1, maps to 16p13.3. We identified a chromosome translocation associated with ADPKD that disrupts a gene (PBP) encoding a 14 kb transcript in the PKD1 candidate region. Further mutations of the PBP gene were found in PKD1 patients, two deletions (one a de novo event) and a splicing defect, confirming that PBP is the PKD1 gene. This gene is located adjacent to the TSC2 locus in a genomic region that is reiterated more proximally on 16p. The duplicate area encodes three transcripts substantially homologous to the PKD1 transcript. Partial sequence analysis of the PKD1 transcript shows that it encodes a novel protein whose function is at present unknown.

Type

Journal article

Journal

Cell

Publication Date

17/06/1994

Volume

77

Pages

881 - 894

Keywords

Adolescent, Adult, Amino Acid Sequence, Base Sequence, Cells, Cultured, Chromosome Mapping, Chromosomes, Human, Pair 16, DNA, Female, Humans, Hybrid Cells, Male, Middle Aged, Molecular Sequence Data, Multigene Family, Mutation, Pedigree, Polycystic Kidney, Autosomal Dominant, Proteins, RNA Splicing, RNA, Messenger, TRPP Cation Channels, Transcription, Genetic, Translocation, Genetic