Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies

2005 ◽  
Vol 45 (4) ◽  
pp. 375-382 ◽  
Author(s):  
Emanuela Maserati ◽  
Antonella Minelli ◽  
Barbara Pressato ◽  
Roberto Valli ◽  
Barbara Crescenzi ◽  
...  
Keyword(s):  
Mutator Phenotype ◽  
Karyotype Instability ◽  
Shwachman Syndrome

scholarly journals The Tyr-265-to-Cys mutator mutant of DNA polymerase beta induces a mutator phenotype in mouse LN12 cells

1999 ◽  
Vol 96 (17) ◽  
pp. 9580-9585 ◽  
Author(s):  
C. A. Clairmont ◽  
L. Narayanan ◽  
K.-W. Sun ◽  
P. M. Glazer ◽  
J. B. Sweasy
Keyword(s):  
Dna Polymerase ◽  
Dna Polymerase Beta ◽  
Mutator Phenotype ◽  
Polymerase Beta

scholarly journals Molecular cloning of the cDNA for a mutant mouse ribonucleotide reductase M1 that produces a dominant mutator phenotype in mammalian cells.

1988 ◽  
Vol 8 (7) ◽  
pp. 2698-2704 ◽  
Author(s):  
I W Caras ◽  
D W Martin
Keyword(s):  
Ribonucleotide Reductase ◽  
Mammalian Cells ◽  
Mutant Mouse ◽  
Chinese Hamster Ovary Cells ◽  
Spontaneous Mutation ◽  
Single Point ◽  
Chinese Hamster ◽  
Fold Increase ◽  
Single Point Mutation ◽  
Mutator Phenotype

Mammalian ribonucleotide reductase is regulated by the binding of dATP and other nucleotide effectors to allosteric sites on subunit M1. Using mRNA from a mutant mouse T-lymphoma (S49) cell line, we have isolated a cDNA which encodes an altered, dATP feedback-resistant subunit M1. The mutant cDNA contains a single point mutation (a G-to-A transition) at codon 57, converting aspartic acid to asparagine. Proof that this mutation is responsible for the phenotype of dATP feedback resistance is provided by the following evidence. (i) The mutation was detected only in mutant S49 cells containing dATP feedback-resistant ribonucleotide reductase and not in wild-type or other mutant S49 cells. (ii) Transfection of Chinese hamster ovary cells with an expression plasmid containing the mutant M1 cDNA resulted in the production of dATP feedback-resistant ribonucleotide reductase. Transfected CHO cells expressing the mutant M1 cDNA exhibited a 15- to 25-fold increase in the frequency of spontaneous mutation to 6-thioguanine resistance, confirming that dATP feedback-resistant ribonucleotide reductase produces a mutator phenotype in mammalian cells. The availability of a cDNA which encodes dATP feedback-resistant subunit M1 thus provides a means of manipulating by transfection the frequency of spontaneous mutation in mammalian cells.

Gastrointestinal cancer of the microsatellite mutator phenotype pathway

2002 ◽  
Vol 37 (3) ◽  
pp. 153-163 ◽  
Author(s):  
Hiroyuki Yamamoto ◽  
Kohzoh Imai ◽  
Manuel Perucho
Keyword(s):  
Gastrointestinal Cancer ◽  
Mutator Phenotype

scholarly journals Disruption of the RAD52 gene alters the spectrum of spontaneous SUP4-o mutations in Saccharomyces cerevisiae.

Genetics ◽  
1989 ◽  
Vol 122 (3) ◽  
pp. 535-542 ◽  
Author(s):  
B A Kunz ◽  
M G Peters ◽  
S E Kohalmi ◽  
J D Armstrong ◽  
M Glattke ◽  
...  
Keyword(s):  
Saccharomyces Cerevisiae ◽  
Base Pair ◽  
Type Strain ◽  
Wild Type Strain ◽  
Wild Type ◽  
Yeast Saccharomyces Cerevisiae ◽  
Mutator Phenotype ◽  
In The Wild ◽  
Single Base Pair ◽  
Almost All

Abstract Defects in the RAD52 gene of the yeast Saccharomyces cerevisiae confer a mutator phenotype. To characterize this effect in detail, a collection of 238 spontaneous SUP4-o mutations arising in a strain having a disrupted RAD52 gene was analyzed by DNA sequencing. The resulting mutational spectrum was compared to that derived from an examination of 222 spontaneous mutations selected in a nearisogenic wild-type (RAD52) strain. This comparison revealed that the mutator phenotype was associated with an increase in the frequency of base-pair substitutions. All possible types of substitution were detected but there was a reduction in the relative fraction of A.T----G.C transitions and an increase in the proportion of G.C----C.G transversions. These changes were sufficient to cause a twofold greater preference for substitutions at G.C sites in the rad52 strain despite a decrease in the fraction of G.C----T.A transversions. There were also considerable differences between the distributions of substitutions within the SUP4-o gene. Base-pair changes occurred at fewer sites in the rad52 strain but the mutated sites included several that were not detected in the RAD52 background. Only two of the four sites that were mutated most frequently in the rad52 strain were also prominent in the wild-type strain and mutation frequencies at almost all sites common to both strains were greater for the rad52 derivative. Although single base-pair deletions occurred in the two strains with similar frequencies, several classes of mutation that were recovered in the wild-type background including multiple base-pair deletions, insertions of the yeast transposable element Ty, and more complex changes, were not detected in the rad52 strain.(ABSTRACT TRUNCATED AT 250 WORDS)

MP39-12 P63 REGULATES DNA REPAIR AND MUTATOR PHENOTYPE OF BLADDER CANCER CELLS

2014 ◽  
Vol 191 (4S) ◽  
Author(s):  
Hsiang-Tsui Wang ◽  
Hyun-Wook Lee ◽  
Mao-wen Weng ◽  
Josephine Kuo ◽  
William C. Huang ◽  
...  
Keyword(s):  
Bladder Cancer ◽  
Dna Repair ◽  
Cancer Cells ◽  
Mutator Phenotype ◽  
Bladder Cancer Cells

scholarly journals Overexpression of DNA polymerase   in cell results in a mutator phenotype and a decreased sensitivity to anticancer drugs

1998 ◽  
Vol 95 (21) ◽  
pp. 12586-12590 ◽  
Author(s):  
Y. Canitrot ◽  
C. Cazaux ◽  
M. Frechet ◽  
K. Bouayadi ◽  
C. Lesca ◽  
...  
Keyword(s):  
Anticancer Drugs ◽  
Dna Polymerase ◽  
Mutator Phenotype
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