The Experts below are selected from a list of 1113 Experts worldwide ranked by ideXlab platform
Anja Wagner - One of the best experts on this subject based on the ideXlab platform.
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a 10 mb Paracentric Inversion of chromosome arm 2p inactivates msh2 and is responsible for hereditary nonpolyposis colorectal cancer in a north american kindred
Genes Chromosomes and Cancer, 2002Co-Authors: Anja Wagner, Heleen M Van Der Klift, Patrick Franken, Juul T Wijnen, Cor Breukel, Vladimir Bezrookove, Ron Smits, Yulia Kinarsky, Alicia BarrowsAbstract:Genomic deletions of the MSH2 gene are a frequent cause of hereditary nonpolyposis colorectal cancer (HNPCC), a common hereditary predisposition to the development of tumors in several organs including the gastrointestinal and urinary tracts and endometrium. The mutation spectrum at the MSH2 gene is extremely heterogeneous because it includes nonsense and missense point mutations, small insertions and deletions leading to frameshifts, and larger genomic deletions, the latter representing approximately 25% of the total mutation burden. Here, we report the identification and molecular characterization of the first Paracentric Inversion of the MSH2 locus known to cause HNPCC. Southern blot analysis and inverse PCR showed that the centromeric and telomeric breakpoints of the Paracentric Inversion map within intron 7 and to a contig 10 Mb 3′ of MSH2, respectively. Pathogenicity of the Paracentric Inversion was demonstrated by conversion analysis. The patient's lymphocytes were employed to generate somatic cell hybrids to analyze the expression of the inverted MSH2 allele in an Msh2-deficient rodent cellular background. The Inversion was shown to abolish MSH2 expression by both northern and western analysis. This study confirms that Southern blot analysis still represents a useful and informative tool to screen for and identify complex genomic rearrangements in HNPCC. Moreover, monoallelic expression analysis represents an attractive approach to demonstrate pathogenicity of unusual mutations in autosomal dominant hereditary conditions. © 2002 Wiley-Liss, Inc.
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a 10 mb Paracentric Inversion of chromosome arm 2p inactivates msh2 and is responsible for hereditary nonpolyposis colorectal cancer in a north american kindred
Genes Chromosomes and Cancer, 2002Co-Authors: Anja Wagner, Patrick Franken, Juul T Wijnen, Cor Breukel, Vladimir Bezrookove, Ron Smits, Yulia Kinarsky, Alicia Barrows, Heleen M Van Der Klift, Barbara FranklinAbstract:Genomic deletions of the MSH2 gene are a frequent cause of hereditary nonpolyposis colorectal cancer (HNPCC), a common hereditary predisposition to the development of tumors in several organs including the gastrointestinal and urinary tracts and endometrium. The mutation spectrum at the MSH2 gene is extremely heterogeneous because it includes nonsense and missense point mutations, small insertions and deletions leading to frameshifts, and larger genomic deletions, the latter representing approximately 25% of the total mutation burden. Here, we report the identification and molecular characterization of the first Paracentric Inversion of the MSH2 locus known to cause HNPCC. Southern blot analysis and inverse PCR showed that the centromeric and telomeric breakpoints of the Paracentric Inversion map within intron 7 and to a contig 10 Mb 3' of MSH2, respectively. Pathogenicity of the Paracentric Inversion was demonstrated by conversion analysis. The patient's lymphocytes were employed to generate somatic cell hybrids to analyze the expression of the inverted MSH2 allele in an Msh2-deficient rodent cellular background. The Inversion was shown to abolish MSH2 expression by both northern and western analysis. This study confirms that Southern blot analysis still represents a useful and informative tool to screen for and identify complex genomic rearrangements in HNPCC. Moreover, monoallelic expression analysis represents an attractive approach to demonstrate pathogenicity of unusual mutations in autosomal dominant hereditary conditions.
Yves Lacassie - One of the best experts on this subject based on the ideXlab platform.
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de novo Paracentric Inversion x q26q28 with features mimicking prader willi syndrome
American Journal of Medical Genetics Part A, 2003Co-Authors: Luisa Florez, Mary Anderson, Yves LacassieAbstract:Different genetic and non-genetic disorders, including several chromosomal abnormalities, may mimic Prader-Willi syndrome (PWS). We report on an 11-year-old girl with features reminiscent of PWS due to an unreported de novo Paracentric Inversion Xq26q28. Microdeletion 15q11-q13 and maternal uniparental disomy 15 were ruled out. The importance of chromosomal studies in addition to molecular analysis on patients with features suggestive of PWS is stressed.
Alicia Barrows - One of the best experts on this subject based on the ideXlab platform.
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a 10 mb Paracentric Inversion of chromosome arm 2p inactivates msh2 and is responsible for hereditary nonpolyposis colorectal cancer in a north american kindred
Genes Chromosomes and Cancer, 2002Co-Authors: Anja Wagner, Heleen M Van Der Klift, Patrick Franken, Juul T Wijnen, Cor Breukel, Vladimir Bezrookove, Ron Smits, Yulia Kinarsky, Alicia BarrowsAbstract:Genomic deletions of the MSH2 gene are a frequent cause of hereditary nonpolyposis colorectal cancer (HNPCC), a common hereditary predisposition to the development of tumors in several organs including the gastrointestinal and urinary tracts and endometrium. The mutation spectrum at the MSH2 gene is extremely heterogeneous because it includes nonsense and missense point mutations, small insertions and deletions leading to frameshifts, and larger genomic deletions, the latter representing approximately 25% of the total mutation burden. Here, we report the identification and molecular characterization of the first Paracentric Inversion of the MSH2 locus known to cause HNPCC. Southern blot analysis and inverse PCR showed that the centromeric and telomeric breakpoints of the Paracentric Inversion map within intron 7 and to a contig 10 Mb 3′ of MSH2, respectively. Pathogenicity of the Paracentric Inversion was demonstrated by conversion analysis. The patient's lymphocytes were employed to generate somatic cell hybrids to analyze the expression of the inverted MSH2 allele in an Msh2-deficient rodent cellular background. The Inversion was shown to abolish MSH2 expression by both northern and western analysis. This study confirms that Southern blot analysis still represents a useful and informative tool to screen for and identify complex genomic rearrangements in HNPCC. Moreover, monoallelic expression analysis represents an attractive approach to demonstrate pathogenicity of unusual mutations in autosomal dominant hereditary conditions. © 2002 Wiley-Liss, Inc.
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a 10 mb Paracentric Inversion of chromosome arm 2p inactivates msh2 and is responsible for hereditary nonpolyposis colorectal cancer in a north american kindred
Genes Chromosomes and Cancer, 2002Co-Authors: Anja Wagner, Patrick Franken, Juul T Wijnen, Cor Breukel, Vladimir Bezrookove, Ron Smits, Yulia Kinarsky, Alicia Barrows, Heleen M Van Der Klift, Barbara FranklinAbstract:Genomic deletions of the MSH2 gene are a frequent cause of hereditary nonpolyposis colorectal cancer (HNPCC), a common hereditary predisposition to the development of tumors in several organs including the gastrointestinal and urinary tracts and endometrium. The mutation spectrum at the MSH2 gene is extremely heterogeneous because it includes nonsense and missense point mutations, small insertions and deletions leading to frameshifts, and larger genomic deletions, the latter representing approximately 25% of the total mutation burden. Here, we report the identification and molecular characterization of the first Paracentric Inversion of the MSH2 locus known to cause HNPCC. Southern blot analysis and inverse PCR showed that the centromeric and telomeric breakpoints of the Paracentric Inversion map within intron 7 and to a contig 10 Mb 3' of MSH2, respectively. Pathogenicity of the Paracentric Inversion was demonstrated by conversion analysis. The patient's lymphocytes were employed to generate somatic cell hybrids to analyze the expression of the inverted MSH2 allele in an Msh2-deficient rodent cellular background. The Inversion was shown to abolish MSH2 expression by both northern and western analysis. This study confirms that Southern blot analysis still represents a useful and informative tool to screen for and identify complex genomic rearrangements in HNPCC. Moreover, monoallelic expression analysis represents an attractive approach to demonstrate pathogenicity of unusual mutations in autosomal dominant hereditary conditions.
Rasmus Nielsen - One of the best experts on this subject based on the ideXlab platform.
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ral ssBioMed CentBMC Bioinformatics Open AcceResearch article Dependence of Paracentric Inversion rate on tract length
2016Co-Authors: Thomas L York, Rick Durrett, Rasmus NielsenAbstract:Background: We develop a Bayesian method based on MCMC for estimating the relative rates of pericentric and Paracentric Inversions from marker data from two species. The method also allows estimation of the distribution of Inversion tract lengths. Results: We apply the method to data from Drosophila melanogaster and D. yakuba. We find that pericentric Inversions occur at a much lower rate compared to Paracentric Inversions. The average Paracentric Inversion tract length is approx. 4.8 Mb with small Inversions being more frequent than large Inversions. If the two breakpoints defining a Paracentric Inversion tract are uniformly and independently distributed over chromosome arms there will be more short tract-length Inversions than long; we find an even greater preponderance of short tract lengths than this would predict. Thus there appears to be a correlation between the positions of breakpoints which favors shorter tract lengths. Conclusion: The method developed in this paper provides the first statistical estimator for estimating the distribution of Inversion tract lengths from marker data. Application of this metho
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dependence of Paracentric Inversion rate on tract length
BMC Bioinformatics, 2007Co-Authors: Thomas L York, Rick Durrett, Rasmus NielsenAbstract:We develop a Bayesian method based on MCMC for estimating the relative rates of pericentric and Paracentric Inversions from marker data from two species. The method also allows estimation of the distribution of Inversion tract lengths. We apply the method to data from Drosophila melanogaster and D. yakuba. We find that pericentric Inversions occur at a much lower rate compared to Paracentric Inversions. The average Paracentric Inversion tract length is approx. 4.8 Mb with small Inversions being more frequent than large Inversions. If the two breakpoints defining a Paracentric Inversion tract are uniformly and independently distributed over chromosome arms there will be more short tract-length Inversions than long; we find an even greater preponderance of short tract lengths than this would predict. Thus there appears to be a correlation between the positions of breakpoints which favors shorter tract lengths. The method developed in this paper provides the first statistical estimator for estimating the distribution of Inversion tract lengths from marker data. Application of this method for a number of data sets may help elucidate the relationship between the length of an Inversion and the chance that it will get accepted.
Barbara Franklin - One of the best experts on this subject based on the ideXlab platform.
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a 10 mb Paracentric Inversion of chromosome arm 2p inactivates msh2 and is responsible for hereditary nonpolyposis colorectal cancer in a north american kindred
Genes Chromosomes and Cancer, 2002Co-Authors: Anja Wagner, Patrick Franken, Juul T Wijnen, Cor Breukel, Vladimir Bezrookove, Ron Smits, Yulia Kinarsky, Alicia Barrows, Heleen M Van Der Klift, Barbara FranklinAbstract:Genomic deletions of the MSH2 gene are a frequent cause of hereditary nonpolyposis colorectal cancer (HNPCC), a common hereditary predisposition to the development of tumors in several organs including the gastrointestinal and urinary tracts and endometrium. The mutation spectrum at the MSH2 gene is extremely heterogeneous because it includes nonsense and missense point mutations, small insertions and deletions leading to frameshifts, and larger genomic deletions, the latter representing approximately 25% of the total mutation burden. Here, we report the identification and molecular characterization of the first Paracentric Inversion of the MSH2 locus known to cause HNPCC. Southern blot analysis and inverse PCR showed that the centromeric and telomeric breakpoints of the Paracentric Inversion map within intron 7 and to a contig 10 Mb 3' of MSH2, respectively. Pathogenicity of the Paracentric Inversion was demonstrated by conversion analysis. The patient's lymphocytes were employed to generate somatic cell hybrids to analyze the expression of the inverted MSH2 allele in an Msh2-deficient rodent cellular background. The Inversion was shown to abolish MSH2 expression by both northern and western analysis. This study confirms that Southern blot analysis still represents a useful and informative tool to screen for and identify complex genomic rearrangements in HNPCC. Moreover, monoallelic expression analysis represents an attractive approach to demonstrate pathogenicity of unusual mutations in autosomal dominant hereditary conditions.
