The gene for autosomal dominant polycystic kidney disease lies in a 750-kb CpG-rich region

Germino, Gregory G.; Weinstat-Saslow, Debra; Himmelbauer, Heinz; Gillespie, Gerald A J; Somlo, Stefan; Wirth, Brunhilde; Barton, N.J.; Harris, Karen L.; Frischauf, Anna Maria; Reeders, Stephen T.

doi:10.1016/0888-7543(92)90214-d

Cited by 74 publications

(33 citation statements)

References 22 publications

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“…The breakpoints of two der(16) chromosomes isolated in rodent-human somatic cell hybrids (N-OH1, 23HA) approximate the telomeric and centromeric boundaries of the PKD1 region (Fig. 4C) (Germino et al, 1992). Southern blot analysis revealed that the gene for ZNF174 was contained within the breakpoint interval defined by these hybrids (Fig.…”

Section: Resultsmentioning

confidence: 99%

Isolation and Characterization of a Novel Zinc-finger Protein with Transcriptional Repressor Activity

Williams

Khachigian

Shows

et al. 1995

Journal of Biological Chemistry

104

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To identify genes that can repress the expression of growth regulatory molecules, a human fetal cDNA library was screened with a degenerate oligonucleotide that corresponds to the conserved stretch of 6 amino acids connecting successive zinc-finger regions in the Wilms' tumor suppressor/Egr-1 family of DNA-binding proteins. One clone, designated zinc-finger protein 174 (ZNF174), corresponds to a putative transcription factor with three zinc fingers and a novel finger-associated domain, designated the SCAN box. The three Cys 2 -His 2 -type zinc fingers are positioned at the carboxyl terminus, while the 65-amino acid finger-associated SCAN box is located near the amino terminus. Chromosomal localization using somatic cell hybrid analysis and fluorescent in situ hybridization mapped the gene for ZNF174 to human chromosome 16p13.3. The 2.5-kilobase transcript from this gene is expressed in a variety of human organs, but most strongly in adult testis and ovary. Fusion of the upstream regulatory region of ZNF174 to the DNA-binding domain of GAL4 revealed that the gene could confer a repression function on the heterologous DNA-binding domain. ZNF174 selectively repressed reporter activity driven by the platelet-derived growth factor-B chain and transforming growth factor-␤ 1 promoters and bound to DNA in a specific manner. This member of the C 2 H 2 -type zinc-finger family is a novel transcriptional repressor.

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Section: Resultsmentioning

confidence: 99%

Isolation and Characterization of a Novel Zinc-finger Protein with Transcriptional Repressor Activity

Williams

Khachigian

Shows

et al. 1995

Journal of Biological Chemistry

104

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“…The normalization model explains a large body of otherwise unexplained physiological phenomena (6). According to the model, a cell's selectivity is attributed to summation (the linear stage) and its nonlinear behavior is attributed to division (the normalization stage).…”

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confidence: 99%

“…The locus responsible for more than 85% of ADPKD (PKD1) has been localized to human 16pl3.3 (4), and non-PKDl forms of ADPKD have been linked to additional chromosomes (5). The entire PKD1 locus has been isolated on a series of overlapping clones (6), and although at least 23 genes have been identified in this 750-kb region (7), it still remains unclear which of these genes, if any, is associated with ADPKD. Animal models of PKD that resembles the various forms of human PKD have been extremely useful for studying the pathogenesis of cystic kidney disease.…”

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confidence: 99%

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Candidate Gene Associated with a Mutation Causing Recessive Polycystic Kidney Disease in Mice

Moyer

Lee-Tischler

Kwon

et al. 1994

Science

325

303

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A line of transgenic mice was generated that contains an insertional mutation causing a phenotype similar to human autosomal recessive polycystic kidney disease. Homozygotes displayed a complex phenotype that included bilateral polycystic kidneys and an unusual liver lesion. The mutant locus was cloned and characterized through use of the transgene as a molecular marker. Additionally, a candidate polycystic kidney disease (PKD) gene was identified whose structure and expression are directly associated with the mutant locus. A complementary DNA derived from this gene predicted a peptide containing a motif that was originally identified in several genes involved in cell cycle control.

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“…We typed the markers D16S85 (3'HVR), D16S259 (pGGGI) and the dinucleotide repeats D16S291 (16AC2.5) and D16S283 (SM7) on chromosome 16. Inter-marker distances (6, 1 and 1 cM, respectively) were taken from Germino et al (1992) or were inferred from physical distances. On both chromosomes, Iod scores were calculated at intervals of I cM.…”

Section: Methodsmentioning

confidence: 99%

Refined localization of TSC1 by combined analysis of 9q34 and 16pl3 data in 14 tuberous sclerosis families

et al. 1994

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Tuberous sclerosis (TSC) is a heterogeneous trait. Since 1990, linkage studies have yielded putative TSC loci on chromosomes 9, 11, 12 and 16. Our current analysis, performed on 14 Dutch and British families, reveals only evidence for loci on chromosome 9q34 (TSC1) and chromosome 16p13 (TSC2). We have found no indication for a third locus for TSC, linked or unlinked to either of these chromosomal regions. The majority of our families shows linkage to chromosome 9. We have refined the candidate region for TSC1 to a region of approximately 5 cM between ABL and ABO. IntroductionTuberous sclerosis (TSC) is an autosomal dominant disorder, characterized by hamartomas that may affect numerous organ systems (for a review, see Gomez 1991). Positional cloning has been hampered by locus heterogeneity. Linkage was initially reported to markers on chromosome 9q34 (Fryer et al. 1987). However, these findings were subsequently disputed, until significance for locus heterogeneity was demonstrated and the existence of a chromosome-9-1inked locus (TSC!) was confirmed (Haines et al. 1991 a, b;Northrup et al. 1992).During the period 1990-1992, linkage studies in TSC were dominated by two main strategies: the development of more efficient methods for heterogeneity analysis and the search for other loci responsible for the disease. Sev-B. Janssen 9 M. van der Est 9 W. Deelen -S. Verhoef

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The gene for autosomal dominant polycystic kidney disease lies in a 750-kb CpG-rich region

Cited by 74 publications

References 22 publications

Isolation and Characterization of a Novel Zinc-finger Protein with Transcriptional Repressor Activity

Isolation and Characterization of a Novel Zinc-finger Protein with Transcriptional Repressor Activity

Candidate Gene Associated with a Mutation Causing Recessive Polycystic Kidney Disease in Mice

Refined localization of TSC1 by combined analysis of 9q34 and 16pl3 data in 14 tuberous sclerosis families

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