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Irene Netchine - One of the best experts on this subject based on the ideXlab platform.
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formation of upd 7 mat by trisomic rescue snp array typing provides new insights in chromosomal nondisjunction
Molecular Cytogenetics, 2017Co-Authors: Sandra Chantotbastaraud, Svea Stratma, Frederic Ioude, Matthias Egema, Miriam Elbrach, Luitgard Graulneuma, Madeleine D Harbiso, Irene NetchineAbstract:Maternal uniparental disomy (UPD) of chromosome 7 (upd(7)mat) accounts for approximately 10% of patients with Silver-Russell syndrome (SRS). For upd(7)mat and Trisomy 7, a significant number of mechanisms have been proposed to explain the postzygotic formation of these chromosomal compositions, but all have been based on as small number of cases. To obtain the ratio of isodisomy and heterodisomy in UPDs (hUPD, iUPD) and to determine the underlying formation mechanisms, we analysed a large cohort of upd(7)mat patients (n = 73) by SNP array typing. Based on these data, we discuss the UPDs and their underlying Trisomy 7 formation mechanisms. A whole chromosome 7 maternal iUPD was confirmed in 28.8%, a mixture or complete maternal hUPD in 71.2% of patients. We could demonstrate that nondisjunction mechanism affecting chromosome 7 are similar to that of the chromosomes more frequently involved in Trisomy (and/or UPD), and that mechanisms other than trisomic rescue have a lower significance than previously suspected. Furthermore, we suggest SNP array typing for future parent- and cell-stage-of origin studies in human aneuploidies as they allow the definite classification of trisomies and UPDs, and provide information on recombinational events and their suggested association with aneuploidy formation.
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Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction
BMC, 2017Co-Authors: Sandra Chantot-bastaraud, Svea Stratma, Frederic Ioude, Matthias Egema, Miriam Elbrach, Madeleine D Harbiso, Irene Netchine, Luitgard Graul-neuma, Thomas EggermaAbstract:Abstract Background Maternal uniparental disomy (UPD) of chromosome 7 (upd(7)mat) accounts for approximately 10% of patients with Silver-Russell syndrome (SRS). For upd(7)mat and Trisomy 7, a significant number of mechanisms have been proposed to explain the postzygotic formation of these chromosomal compositions, but all have been based on as small number of cases. To obtain the ratio of isodisomy and heterodisomy in UPDs (hUPD, iUPD) and to determine the underlying formation mechanisms, we analysed a large cohort of upd(7)mat patients (n = 73) by SNP array typing. Based on these data, we discuss the UPDs and their underlying Trisomy 7 formation mechanisms. Results A whole chromosome 7 maternal iUPD was confirmed in 28.8%, a mixture or complete maternal hUPD in 71.2% of patients. Conclusions We could demonstrate that nondisjunction mechanism affecting chromosome 7 are similar to that of the chromosomes more frequently involved in Trisomy (and/or UPD), and that mechanisms other than trisomic rescue have a lower significance than previously suspected. Furthermore, we suggest SNP array typing for future parent- and cell-stage-of origin studies in human aneuploidies as they allow the definite classification of trisomies and UPDs, and provide information on recombinational events and their suggested association with aneuploidy formation
Irina A Lubensky - One of the best experts on this subject based on the ideXlab platform.
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Trisomy 7 harbouring non random duplication of the mutant met allele in hereditary papillary renal carcinomas
The Journal of Urology, 1999Co-Authors: Zhengping Zhuang, W S Park, Svetlana Pack, L Schmidt, A O Vortmeyer, E Pak, Thu Pham, Robert J Weil, S Candidus, Irina A LubenskyAbstract:The gene defect for hereditary papillary renal carcinoma 1 (HPRC) has recently been mapped to chromosome 7q, and germline mutations of MET (also known as c-met) at 7q31 have been detected in patients with HPRC (ref. 2). Tumours from these patients commonly show Trisomy of chromosome 7 when analysed by cytogenetic studies and comparative genomic hybridization 3 (CGH). However, the relationship between Trisomy 7 and MET germline mutations is not clear. We studied 16 renal tumours from two patients with documented germline mutations in exon 16 of MET. Flourescent in situ hybridization (FISH) analysis showed Trisomy 7 in all tumours. To determine whether the chromosome bearing the mutant or wild-type MET gene was duplicated, we performed duplex PCR and phosphoimage densitometry using polymorphic microsatellite markers D7S1801 and D7S1822, which were linked to the disease gene locus, and D1S1646 as an internal control. We determined the parental origin of chromosome alleles by genotyping parental DNA. In all 16 tumours there was an increased signal intensity (2:1 ratio) of the microsatellite allele from the chromosome bearing the mutant MET compared with the allele from the chromosome bearing the wild-type MET. Our study demonstrates a non-random duplication of the chromosome bearing the mutated MET in HPRC and implicates this event in tumorigenesis. All tumours analysed using FISH were trisomic for chromosome 7 using chromosome 7-specific painting and centromeric α-satellite probes (Fig. 1d). In addition, three copies of the MET gene were consistently detected in the tumour cells using cosmid c182b3 (which contains MET) as a probe (Fig. 1b). In contrast,
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Trisomy 7 harbouring non random duplication of the mutant met allele in hereditary papillary renal carcinomas
Nature Genetics, 1998Co-Authors: Zhengping Zhuang, W S Park, Svetlana Pack, L Schmidt, A O Vortmeyer, E Pak, Thu Pham, Robert J Weil, S Candidus, Irina A LubenskyAbstract:The gene defect for hereditary papillary renal carcinoma1 (HPRC) has recently been mapped to chromosome 7q, and germline mutations of MET (also known as c-met) at 7q31 have been detected in patients with HPRC (ref. 2). Tumours from these patients commonly show Trisomy of chromosome 7 when analysed by cytogenetic studies and comparative genomic hybridization3 (CGH). However, the relationship between Trisomy 7 and MET germline mutations is not clear. We studied 16 renal tumours from two patients with documented germline mutations in exon 16 of MET. Flourescent in situ hybridization (FISH) analysis showed Trisomy 7 in all tumours. To determine whether the chromosome bearing the mutant or wild-type MET gene was duplicated, we performed duplex PCR and phosphoimage densitometry using polymorphic microsatellite markers D7S1801 and D7S1822, which were linked to the disease gene locus, and D1S1646 as an internal control. We determined the parental origin of chromosome alleles by genotyping parental DNA. In all 16 tumours there was an increased signal intensity (2:1 ratio) of the microsatellite allele from the chromosome bearing the mutant MET compared with the allele from the chromosome bearing the wild-type MET. Our study demonstrates a non-random duplication of the chromosome bearing the mutated MET in HPRC and implicates this event in tumorigenesis.
Zhengping Zhuang - One of the best experts on this subject based on the ideXlab platform.
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Trisomy 7 harbouring non random duplication of the mutant met allele in hereditary papillary renal carcinomas
The Journal of Urology, 1999Co-Authors: Zhengping Zhuang, W S Park, Svetlana Pack, L Schmidt, A O Vortmeyer, E Pak, Thu Pham, Robert J Weil, S Candidus, Irina A LubenskyAbstract:The gene defect for hereditary papillary renal carcinoma 1 (HPRC) has recently been mapped to chromosome 7q, and germline mutations of MET (also known as c-met) at 7q31 have been detected in patients with HPRC (ref. 2). Tumours from these patients commonly show Trisomy of chromosome 7 when analysed by cytogenetic studies and comparative genomic hybridization 3 (CGH). However, the relationship between Trisomy 7 and MET germline mutations is not clear. We studied 16 renal tumours from two patients with documented germline mutations in exon 16 of MET. Flourescent in situ hybridization (FISH) analysis showed Trisomy 7 in all tumours. To determine whether the chromosome bearing the mutant or wild-type MET gene was duplicated, we performed duplex PCR and phosphoimage densitometry using polymorphic microsatellite markers D7S1801 and D7S1822, which were linked to the disease gene locus, and D1S1646 as an internal control. We determined the parental origin of chromosome alleles by genotyping parental DNA. In all 16 tumours there was an increased signal intensity (2:1 ratio) of the microsatellite allele from the chromosome bearing the mutant MET compared with the allele from the chromosome bearing the wild-type MET. Our study demonstrates a non-random duplication of the chromosome bearing the mutated MET in HPRC and implicates this event in tumorigenesis. All tumours analysed using FISH were trisomic for chromosome 7 using chromosome 7-specific painting and centromeric α-satellite probes (Fig. 1d). In addition, three copies of the MET gene were consistently detected in the tumour cells using cosmid c182b3 (which contains MET) as a probe (Fig. 1b). In contrast,
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Trisomy 7 harbouring non random duplication of the mutant met allele in hereditary papillary renal carcinomas
Nature Genetics, 1998Co-Authors: Zhengping Zhuang, W S Park, Svetlana Pack, L Schmidt, A O Vortmeyer, E Pak, Thu Pham, Robert J Weil, S Candidus, Irina A LubenskyAbstract:The gene defect for hereditary papillary renal carcinoma1 (HPRC) has recently been mapped to chromosome 7q, and germline mutations of MET (also known as c-met) at 7q31 have been detected in patients with HPRC (ref. 2). Tumours from these patients commonly show Trisomy of chromosome 7 when analysed by cytogenetic studies and comparative genomic hybridization3 (CGH). However, the relationship between Trisomy 7 and MET germline mutations is not clear. We studied 16 renal tumours from two patients with documented germline mutations in exon 16 of MET. Flourescent in situ hybridization (FISH) analysis showed Trisomy 7 in all tumours. To determine whether the chromosome bearing the mutant or wild-type MET gene was duplicated, we performed duplex PCR and phosphoimage densitometry using polymorphic microsatellite markers D7S1801 and D7S1822, which were linked to the disease gene locus, and D1S1646 as an internal control. We determined the parental origin of chromosome alleles by genotyping parental DNA. In all 16 tumours there was an increased signal intensity (2:1 ratio) of the microsatellite allele from the chromosome bearing the mutant MET compared with the allele from the chromosome bearing the wild-type MET. Our study demonstrates a non-random duplication of the chromosome bearing the mutated MET in HPRC and implicates this event in tumorigenesis.
Frederic Ioude - One of the best experts on this subject based on the ideXlab platform.
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formation of upd 7 mat by trisomic rescue snp array typing provides new insights in chromosomal nondisjunction
Molecular Cytogenetics, 2017Co-Authors: Sandra Chantotbastaraud, Svea Stratma, Frederic Ioude, Matthias Egema, Miriam Elbrach, Luitgard Graulneuma, Madeleine D Harbiso, Irene NetchineAbstract:Maternal uniparental disomy (UPD) of chromosome 7 (upd(7)mat) accounts for approximately 10% of patients with Silver-Russell syndrome (SRS). For upd(7)mat and Trisomy 7, a significant number of mechanisms have been proposed to explain the postzygotic formation of these chromosomal compositions, but all have been based on as small number of cases. To obtain the ratio of isodisomy and heterodisomy in UPDs (hUPD, iUPD) and to determine the underlying formation mechanisms, we analysed a large cohort of upd(7)mat patients (n = 73) by SNP array typing. Based on these data, we discuss the UPDs and their underlying Trisomy 7 formation mechanisms. A whole chromosome 7 maternal iUPD was confirmed in 28.8%, a mixture or complete maternal hUPD in 71.2% of patients. We could demonstrate that nondisjunction mechanism affecting chromosome 7 are similar to that of the chromosomes more frequently involved in Trisomy (and/or UPD), and that mechanisms other than trisomic rescue have a lower significance than previously suspected. Furthermore, we suggest SNP array typing for future parent- and cell-stage-of origin studies in human aneuploidies as they allow the definite classification of trisomies and UPDs, and provide information on recombinational events and their suggested association with aneuploidy formation.
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Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction
BMC, 2017Co-Authors: Sandra Chantot-bastaraud, Svea Stratma, Frederic Ioude, Matthias Egema, Miriam Elbrach, Madeleine D Harbiso, Irene Netchine, Luitgard Graul-neuma, Thomas EggermaAbstract:Abstract Background Maternal uniparental disomy (UPD) of chromosome 7 (upd(7)mat) accounts for approximately 10% of patients with Silver-Russell syndrome (SRS). For upd(7)mat and Trisomy 7, a significant number of mechanisms have been proposed to explain the postzygotic formation of these chromosomal compositions, but all have been based on as small number of cases. To obtain the ratio of isodisomy and heterodisomy in UPDs (hUPD, iUPD) and to determine the underlying formation mechanisms, we analysed a large cohort of upd(7)mat patients (n = 73) by SNP array typing. Based on these data, we discuss the UPDs and their underlying Trisomy 7 formation mechanisms. Results A whole chromosome 7 maternal iUPD was confirmed in 28.8%, a mixture or complete maternal hUPD in 71.2% of patients. Conclusions We could demonstrate that nondisjunction mechanism affecting chromosome 7 are similar to that of the chromosomes more frequently involved in Trisomy (and/or UPD), and that mechanisms other than trisomic rescue have a lower significance than previously suspected. Furthermore, we suggest SNP array typing for future parent- and cell-stage-of origin studies in human aneuploidies as they allow the definite classification of trisomies and UPDs, and provide information on recombinational events and their suggested association with aneuploidy formation
Svetlana Pack - One of the best experts on this subject based on the ideXlab platform.
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map kinase and jak stat pathways dysregulation in plasmablastic lymphoma
Haematologica, 2021Co-Authors: Joan Enric Ramiszaldivar, Svetlana Pack, Blanca Gonzalezfarre, Alina Nicolae, Guillem Clot, Ferran Nadeu, Anja Mottok, Heike Horn, Joo Y Song, George E WrightAbstract:Plasmablastic lymphoma (PBL) is an aggressive B-cell lymphoma with an immunoblastic/large cell morphology and plasmacytic differentiation. The differential diagnosis with Burkitt lymphoma (BL), plasma cell myeloma (PCM) and some variants of diffuse large B-cell lymphoma (DLBCL) may be challenging due to the overlapping morphological, genetic and immunophenotypic features. Furthermore, the genomic landscape in PBL is not well known. To characterize the genetic and molecular heterogeneity of these tumors, we investigated thirty-four PBL using an integrated approach, including fluorescence in situ hybridization, targeted sequencing of 94 B-cell lymphoma related genes, and copy-number arrays. PBL were characterized by high genetic complexity including MYC translocations (87%), gains of 1q21.1-q44, Trisomy 7, 8q23.2-q24.21, 11p13-p11.2, 11q14.2-q25, 12p and 19p13.3-p13.13, losses of 1p33, 1p31.1-p22.3, 13q and 17p13.3-p11.2, and recurrent mutations of STAT3 (37%), NRAS and TP53 (33%), MYC and EP300 (19%) and CARD11, SOCS1 and TET2 (11%). Pathway enrichment analysis suggested a cooperative action between MYC alterations and MAPK (49%) and JAK-STAT (40%) signaling pathways. Of note, EBVnegative PBL cases had higher mutational and copy-number load and more frequent TP53, CARD11 and MYC mutations, whereas EBV-positive PBL tended to have more mutations affecting the JAK-STAT pathway. In conclusion, these findings further unravel the distinctive molecular heterogeneity of PBL identifying novel molecular targets and the different genetic profile of these tumors related to EBV infection.
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Trisomy 7 harbouring non random duplication of the mutant met allele in hereditary papillary renal carcinomas
The Journal of Urology, 1999Co-Authors: Zhengping Zhuang, W S Park, Svetlana Pack, L Schmidt, A O Vortmeyer, E Pak, Thu Pham, Robert J Weil, S Candidus, Irina A LubenskyAbstract:The gene defect for hereditary papillary renal carcinoma 1 (HPRC) has recently been mapped to chromosome 7q, and germline mutations of MET (also known as c-met) at 7q31 have been detected in patients with HPRC (ref. 2). Tumours from these patients commonly show Trisomy of chromosome 7 when analysed by cytogenetic studies and comparative genomic hybridization 3 (CGH). However, the relationship between Trisomy 7 and MET germline mutations is not clear. We studied 16 renal tumours from two patients with documented germline mutations in exon 16 of MET. Flourescent in situ hybridization (FISH) analysis showed Trisomy 7 in all tumours. To determine whether the chromosome bearing the mutant or wild-type MET gene was duplicated, we performed duplex PCR and phosphoimage densitometry using polymorphic microsatellite markers D7S1801 and D7S1822, which were linked to the disease gene locus, and D1S1646 as an internal control. We determined the parental origin of chromosome alleles by genotyping parental DNA. In all 16 tumours there was an increased signal intensity (2:1 ratio) of the microsatellite allele from the chromosome bearing the mutant MET compared with the allele from the chromosome bearing the wild-type MET. Our study demonstrates a non-random duplication of the chromosome bearing the mutated MET in HPRC and implicates this event in tumorigenesis. All tumours analysed using FISH were trisomic for chromosome 7 using chromosome 7-specific painting and centromeric α-satellite probes (Fig. 1d). In addition, three copies of the MET gene were consistently detected in the tumour cells using cosmid c182b3 (which contains MET) as a probe (Fig. 1b). In contrast,
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Trisomy 7 harbouring non random duplication of the mutant met allele in hereditary papillary renal carcinomas
Nature Genetics, 1998Co-Authors: Zhengping Zhuang, W S Park, Svetlana Pack, L Schmidt, A O Vortmeyer, E Pak, Thu Pham, Robert J Weil, S Candidus, Irina A LubenskyAbstract:The gene defect for hereditary papillary renal carcinoma1 (HPRC) has recently been mapped to chromosome 7q, and germline mutations of MET (also known as c-met) at 7q31 have been detected in patients with HPRC (ref. 2). Tumours from these patients commonly show Trisomy of chromosome 7 when analysed by cytogenetic studies and comparative genomic hybridization3 (CGH). However, the relationship between Trisomy 7 and MET germline mutations is not clear. We studied 16 renal tumours from two patients with documented germline mutations in exon 16 of MET. Flourescent in situ hybridization (FISH) analysis showed Trisomy 7 in all tumours. To determine whether the chromosome bearing the mutant or wild-type MET gene was duplicated, we performed duplex PCR and phosphoimage densitometry using polymorphic microsatellite markers D7S1801 and D7S1822, which were linked to the disease gene locus, and D1S1646 as an internal control. We determined the parental origin of chromosome alleles by genotyping parental DNA. In all 16 tumours there was an increased signal intensity (2:1 ratio) of the microsatellite allele from the chromosome bearing the mutant MET compared with the allele from the chromosome bearing the wild-type MET. Our study demonstrates a non-random duplication of the chromosome bearing the mutated MET in HPRC and implicates this event in tumorigenesis.
