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Titolo:
Polycystin-1 expression in PKD1, early-onset PKD1, and TSC2/PKD1 cystic tissue
Autore:
Ong, ACM; Harris, PC; Davies, DR; Pritchard, L; Rossetti, S; Biddolph, S; Vaux, DJT; Migone, N; Ward, CJ;
Indirizzi:
Univ Oxford, Inst Mol Med, MRC, Mol Haematol Unit, Oxford OX3 9DS, EnglandUniv Oxford Oxford England OX3 9DS aematol Unit, Oxford OX3 9DS, England John Radcliffe Hosp, Dept Cellular Pathol, Headingon, England John Radcliffe Hosp Headingon England llular Pathol, Headingon, England John Radcliffe Hosp, Dept Paediat Pathol, Headington, England John Radcliffe Hosp Headington England diat Pathol, Headington, England Univ Oxford, Sir William Dunn Sch Pathol, Oxford, England Univ Oxford Oxford England Sir William Dunn Sch Pathol, Oxford, England Univ Turin, Dipartimento Genet Biol & Biochim, Turin, Italy Univ Turin Turin Italy Dipartimento Genet Biol & Biochim, Turin, Italy CIOS, CNR, Turin, Italy CIOS Turin ItalyCIOS, CNR, Turin, Italy
Titolo Testata:
KIDNEY INTERNATIONAL
fascicolo: 4, volume: 56, anno: 1999,
pagine: 1324 - 1333
SICI:
0085-2538(199910)56:4<1324:PEIPEP>2.0.ZU;2-9
Fonte:
ISI
Lingua:
ENG
Soggetto:
KIDNEY-DISEASE; GENE-PRODUCT; POLYCYSTIC-KIDNEY-DISEASE-1 PKD1; MOLECULAR-BASIS; MUTATION; PROTEIN; IDENTIFICATION; REGION; CELLS; LOCALIZATION;
Keywords:
polycystic kidney disease; ADPKD; TSC2; gene mutations; cystogenesis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
40
Recensione:
Indirizzi per estratti:
Indirizzo: Ong, ACM Univ Oxford, Inst Mol Med, MRC, Mol Haematol Unit, Oxford OX3 9DS, England Univ Oxford Oxford England OX3 9DS nit, Oxford OX3 9DS, England
Citazione:
A.C.M. Ong et al., "Polycystin-1 expression in PKD1, early-onset PKD1, and TSC2/PKD1 cystic tissue", KIDNEY INT, 56(4), 1999, pp. 1324-1333

Abstract

Background. The mutational mechanism responsible for cyst formation in polycystic kidney disease 1 gene (PKD1) remains controversial, with data indicating a two-hit mechanism, but also evidence of polycystin-1 expression in cystic tissue. Methods. To investigate this apparent paradox, we analyzed polycystin-1 expression in cystic renal or liver tissue from 10 patients with truncating PKD1 mutations (including one early-onset cage) and 2 patients with severe disease associated with contiguous deletions of TSC2 and PKD1, using monoclonal antibodies (mAbs) to both extreme N-(7e12) and C-terminal (PKS-A) regions of the protein. Truncation of the C-terminal epitope from the putative mutant proteins in each case allowed exclusive assessment of the nontruncated protein with PKS-A. Results. In adult PKD1 tissue, the majority of cysts (approximately 80%) showed polycystin-1 expression, although staining was absent in a variable but significant minority (approximately 20%), in spite of the normal expression of marker proteins. Unlike adult PKD1, however, negative cysts were rarely found in infantile PKD1 or TSC2/PKD1 deletion cases. Conclusions. If a two-hit mutational mechanism is operational, these results suggest that the majority of somatic mutations in adult PKD1 are likely to be missense changes. The low level of polycystin-1-negative cysts in thethree "early-onset" cases, however, suggests that a somatic PKD1 mutation may not always be required for cyst formation.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/11/20 alle ore 00:01:01