Fine mapping of the 1q21 breakpoint of the papillary renal cell carcinoma-associated (X;1) translocation

Weterman, Marian A. J.; Wilbrink, M.J.M.; Dijkhuizen, Trijnie; Berg, Eva van den; Kessel, A.H.M. Geurts van

doi:10.1007/s004390050153

Cited by 32 publications

(20 citation statements)

References 30 publications

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“…Our results seem to indicate that, if rodents are excepted, the position of chromosome breaks might be conserved in the evolutionary course of large mammal species, and that roughly 100-120 segments were the base of mammalian autosomal shuffling. The conserved positions of genomic rearrangements might be caused by repeated sequences, often clusters of gene families, as has been observed previously in some particular mouse/human comparisons (Amadou et al 1995;Weterman et al 1996).…”

Section: Comparative Gene Mapping Demonstrates a High Number Of Chrommentioning

confidence: 63%

“…However, in most cases, limited chromosomal regions were taken into account, matching generally only humans and mice (Amadou et al 1995;Weterman et al 1996). To our knowledge, our study is the first involving a genome-wide scan, leading to an identification of preferential breakpoints over the whole genome.…”

Section: Comparative Gene Mapping Demonstrates a High Number Of Chrommentioning

confidence: 99%

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Comparative Gene Mapping: A Fine-Scale Survey of Chromosome Rearrangements between Ruminants and Humans

Schibler¹,

Vaiman²,

Oustry³

et al. 1998

Genome Res.

159

132

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A total of 202 genes were cytogenetically mapped to goat chromosomes, multiplying by five the total number of regional gene localizations in domestic ruminants (255). This map encompasses 249 and 173 common anchor loci regularly spaced along human and murine chromosomes, respectively, which makes it possible to perform a genome-wide comparison between three mammalian orders. Twice as many rearrangements as revealed by ZOO-FISH were observed. The average size of conserved fragments could be estimated at 27 and 8 cm with humans and mice, respectively. The position of evolutionary breakpoints often correspond with human chromosome sites known to be vulnerable to rearrangement in neoplasia. Furthermore, 75 microsatellite markers, 30 of which were isolated from gene-containing bacterial artificial chromosomes (BACs), were added to the previous goat genetic map, achieving 88% genome coverage. Finally, 124 microsatellites were cytogenetically mapped, which made it possible to physically anchor and orient all the linkage groups. We believe that this comprehensive map will speed up positional cloning projects in domestic ruminants and clarify some aspects of mammalian chromosomal evolution.[The sequence data described in this paper have been submitted to the GenBank data library under accession nos. G40978–G41020,AF083170–AF083184, AF088286, AF08287, AF083401–AF083406, AF082884, and AF082885.]

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Section: Comparative Gene Mapping Demonstrates a High Number Of Chrommentioning

confidence: 63%

Section: Comparative Gene Mapping Demonstrates a High Number Of Chrommentioning

confidence: 99%

Comparative Gene Mapping: A Fine-Scale Survey of Chromosome Rearrangements between Ruminants and Humans

Schibler¹,

Vaiman²,

Oustry³

et al. 1998

Genome Res.

159

132

View full text Add to dashboard Cite

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“…However it was possible that we failed to detect MET mutations located outside the tyrosine kinase domain. Therefore, the cysteine-rich extracellular domain (exons 5 and 7), the transmembrane region (exon 13) and intracellular portion of the protein (exons 14 ± 20), were sequenced in their entirety Independent studies suggest that sporadic papillary renal carcinoma is genetically heterogeneous, and may also be caused by mutations in the TFE3 and PPRC genes (Sidhar et al, 1996;Weterman et al, 1996).…”

Section: Discussionmentioning

confidence: 99%

Novel mutations of the MET proto-oncogene in papillary renal carcinomas

et al. 1999

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Hereditary papillary renal carcinoma (HPRC) is characterized by multiple, bilateral papillary renal carcinomas. Previously, we demonstrated missense mutations in the tyrosine kinase domain of the MET proto-oncogene in HPRC and a subset of sporadic papillary renal carcinomas. In this study, we screened a large panel of sporadic papillary renal carcinomas and various solid tumors for mutations in the MET protooncogene. Summarizing these and previous results, mutations of the MET proto-oncogene were detected in 17/129 sporadic papillary renal carcinomas but not in other solid tumors. We detected ®ve novel missense mutations; three of ®ve mutations were located in the ATP-binding region of the tyrosine kinase domain of MET. One novel mutation in MET, V1110I, was located at a codon homologous to an activating mutation in the c-erbB proto-oncogene. These mutations caused constitutive phosphorylation of MET when transfected into NIH3T3 cells. Molecular modeling studies suggest that these activating mutations interfere with the intrasteric mechanism of tyrosine kinase autoinhibition and facilitate transition to the active form of the MET kinase. The low frequency of MET mutations in noninherited papillary renal carcinomas (PRC) suggests that noninherited PRC may develop by a dierent mechanism than hereditary papillary renal carcinoma.

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“…Growth arrest was observed after 1 ± 2 weeks for all transfected cells except for those transfected with PRCCTFE3. After approximately 3 weeks, marked changes in morphology occurred in all (Weterman et al, 1996b), t(X;1)-positive CL89-17872 renal carcinoma cells (41) (Weterman et al, 1996a), and a human embryonal kidney cell line (293) (42) transfected cells except for the PRCCTFE3 transfectants as illustrated in Figure 6. PRCCTFE3 transfected cells (Figure 6a,b) were relatively large and irregular in shape and grew partially on top of each other whereas in all other transfectants the cells showed epithelial-like morphology, and formed elongated, rounded and nicely aligned structures (Figure 6c ± h).…”

Section: In Vivo Tumor Formation By Transfected Nih3t3 Cellsmentioning

confidence: 99%

Transformation capacities of the papillary renal cell carcinoma-associated PRCCTFE3 and TFE3PRCC fusion genes

Weterman

Groningen²,

Hartog

et al. 2001

Oncogene

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A recurrent chromosomal abnormality associated with a subset of papillary renal cell carcinomas is t(X;1)(p11;q21). This translocation leads to the formation of two fusion genes, TFE3PRCC and the reciprocal product PRCCTFE3. Both fusion genes are expressed in t(X;1)-positive renal cell carcinomas and contain major parts of the coding regions of the parental transcription factor PRCC and TFE3 genes, respectively. To ®nd out whether these fusion genes possess transforming capacity, we transfected NIH3T3 and rat-1 cells with the fusion products, either separately or combined. When using soft agar assays, we observed colony formation in all cases. NIH3T3 cells transfected with PRCCTFE3 or PRCCTFE3 together with TFE3PRCC yielded the highest colony forming capacities. Examination of other characteristics associated with malignant transformation, i.e., growth under low-serum conditions and formation of tumors in athymic nude mice, revealed that cells transfected with PRCCTFE3 exhibited all these transformation-associated characteristics. Upon transfection of the fusion products into conditionally immortalized kidney cells, derived from the proximal tubules of an H2Kb-tsA58 transgenic mouse, and consecutive incubation under non-permissive conditions, growth arrest was observed, followed by di erentiation except for those cells transfected with PRCCTFE3. Therefore, we conclude that PRCCTFE3 may be the t(X;1)-associated fusion product that is most critical for the development of papillary renal cell carcinomas.

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Fine mapping of the 1q21 breakpoint of the papillary renal cell carcinoma-associated (X;1) translocation

Cited by 32 publications

References 30 publications

Comparative Gene Mapping: A Fine-Scale Survey of Chromosome Rearrangements between Ruminants and Humans

Comparative Gene Mapping: A Fine-Scale Survey of Chromosome Rearrangements between Ruminants and Humans

Novel mutations of the MET proto-oncogene in papillary renal carcinomas

Transformation capacities of the papillary renal cell carcinoma-associated PRCCTFE3 and TFE3PRCC fusion genes

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