Identification of the polycystic kidney disease 1 (PKD1)
- John Radcliffe Hospital, Oxford (United Kingdom)
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic disorders, affecting 1/1000 individuals, and a major cause of renal failure. The PKD1 locus, which is in chromosome region 16p13.3, accounts for {approximately}85% of ADPKD. We have identified a chromosome translocation associated with ADPKD which disrupts a gene in the PKD1 candidate region. Three additional mutations of this gene have been identified in PKD1 patients, including a de novo mutation, showing that this is the PKD1 gene. This gene encodes an {approximately}14 transcript and is located adjacent to the tuberous sclerosis 2 gene in a genomic region that is duplicated elsewhere on chromosome 16: the duplicate area encodes three transcripts which are partially homologous to the PKD1 transcript. Duplication of this region has made characterization of the gene particularly difficult, but {approximately}6 kb of the transcript has been cloned and sequenced. No significant homologies with known proteins have been detected. Studies are underway to clone and characterize a full length transcript and to determine the normal role of the PKD1 protein.
- OSTI ID:
- 133310
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-0037
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
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