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| THE POLYCYSTIC KIDNEY-DISEASE-1 GENE ENCODES A 14-KB TRANSCRIPT AND LIES WITHIN A DUPLICATED REGION ON CHROMOSOME-16 |
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| Author(s): WARD CJ, PERAL B, HUGHES J, THOMAS S, GAMBLE V, MACCARTHY AB, SLOANESTANLEY J, BUCKLE VJ, KEARNEY L, HIGGS DR, RATCLIFFE PJ, HARRIS PC, ROELFSEMA JH, SPRUIT L, SARIS JJ, DAUWERSE HG, PETERS DJM, BREUNING MH, NELLIST M, BROOKCARTER PT, MAHESHWAR MM, CORDEIRO I, SANTOS H, CABRAL P, SAMPSON JR, JANSSEN B, HESSELINGJANSSEN ALW, VANDENOUWELAND AMW, EUSSEN B, VERHOEF S, LINDHOUT D, HALLEY DJJ |
| Source: CELL Volume: 77 Issue: 6 Pages: 881-894 Published: JUN 17 1994 |
| Times Cited: 345 References: 56 |
| Abstract: 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 APPKD 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. |
| Document Type: Article |
| Language: English |
Addresses:
1. JOHN RADCLIFFE HOSP, INST MOLEC MED, MRC, MOLEC HEMATOL UNIT, OXFORD OX3 9DU, ENGLAND
2. LEIDEN STATE UNIV, DEPT HUMAN GENET, 2333 AL LEIDEN, NETHERLANDS
3. UNIV WALES COLL MED, INST MED GENET, CARDIFF CF4 4XN, S GLAM WALES
4. HOSP SANTA MARIA, GENET UNIT, P-1699 LISBON, PORTUGAL
5. HOSP D ESTEFANIA, DEPT NEUROL, P-1699 LISBON, PORTUGAL
6. ERASMUS UNIV ROTTERDAM, DEPT CLIN GENET, 3015 GD ROTTERDAM, NETHERLANDS
7. UNIV ROTTERDAM HOSP, 3015 GD ROTTERDAM, NETHERLANDS |
| Publisher: CELL PRESS, 1050 MASSACHUSETTES AVE, CIRCULATION DEPT, CAMBRIDGE, MA 02138 |
| Subject Category: Biochemistry & Molecular Biology; Cell Biology |
| IDS Number: NT331 |
| ISSN: 0092-8674 |
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