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Chang et al. 11 (7): 1145
.
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Research
:
Heterogeneous polymerase fidelity and mismatch repair bias genome variation and composition
Scott A. Lujan
,
Anders R. Clausen
,
Alan B. Clark
,
Heather K. MacAlpine
,
David M. MacAlpine
,
Ewa P. Malc
,
Piotr A. Mieczkowski
,
Adam B. Burkholder
,
David C. Fargo
,
Dmitry A. Gordenin
,
and
Thomas A. Kunkel
Genome Res.
November 2014
24
:
1751
-
1764
;
Published in Advance
September 12, 2014
,
doi:
10.1101/gr.178335.114
...state, nucleosome proximity, and sequence context. Further, error rates and
DNA
mismatch
repair
efficiency both vary by
mismatch
type, responsible polymerase, replication time, and replication origin proximity.
Mutation
patterns implicate replication infidelity as one driver of variation in somatic...
Abstract
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Research
:
C. elegans
whole-genome sequencing reveals mutational signatures related to carcinogens and DNA repair deficiency
Bettina Meier
,
Susanna L. Cooke
,
Joerg Weiss
,
Aymeric P. Bailly
,
Ludmil B. Alexandrov
,
John Marshall
,
Keiran Raine
,
Mark Maddison
,
Elizabeth Anderson
,
Michael R. Stratton
,
Anton Gartner
,
and
Peter J. Campbell
Genome Res.
October 2014
24
:
1624
-
1636
;
Published in Advance
July 16, 2014
,
doi:
10.1101/gr.175547.114
...C. elegans whole-genome sequencing reveals
mutational
signatures related to carcinogens and
DNA
repair
deficiency Bettina Meier 1 , 6 , Susanna L. Cooke 2 , 6 , Joerg Weiss 1 , Aymeric P. Bailly 1 , 3 , Ludmil B. Alexandrov...
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LETTER
:
Microsatellites in Different Eukaryotic Genomes: Survey and Analysis
Gábor Tóth
,
Zoltán Gáspári
,
and
Jerzy Jurka
Genome Res.
July 1, 2000
10
:
967
-
981
;
doi:
10.1101/gr.10.7.967
...to be controlled at multiple steps in vivo. An active role of the
DNA
mismatch
repair
system to stabilize simple sequence repeats has been revealed in Escherichia coli , yeast, and humans (for review, see Sia et al. 1997 ). Although a number of experimental results argue in favor of the above model, homologous...
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Research
:
Long-read sequencing technology indicates genome-wide effects of non-B DNA on polymerization speed and error rate
Wilfried M. Guiblet
,
Marzia A. Cremona
,
Monika Cechova
,
Robert S. Harris
,
Iva Kejnovská
,
Eduard Kejnovsky
,
Kristin Eckert
,
Francesca Chiaromonte
,
and
Kateryna D. Makova
Genome Res.
December 2018
28
:
1767
-
1778
;
Published in Advance
November 6, 2018
,
doi:
10.1101/gr.241257.118
...polymerases and enzymes from numerous
DNA
repair
pathways (Sweasy et al. 2006). Furthermore,
mutation
occurrence is influenced by additional factors (e.g., chromatin, etc.) (Makova and Hardison 2015). Notwithstanding all these caveats, our results, together with published results of Du and colleagues (Du et...
Abstract
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LETTER
:
Abundance and length of simple repeats in vertebrate genomes are determined by their structural properties
Albino Bacolla
,
Jacquelynn E. Larson
,
Jack R. Collins
,
Jian Li
,
Aleksandar Milosavljevic
,
Peter D. Stenson
,
David N. Cooper
,
and
Robert D. Wells
Genome Res.
October 2008
18
:
1545
-
1553
;
Published in Advance
August 7, 2008
,
doi:
10.1101/gr.078303.108
...or incisions at the 3-/4-way junctions by the Holliday junction resolvase may initiate
DNA
repair
and exonucleolytic cleavage, followed by single-strand annealing ( Al-Minawi et al. 2008 ) or nonhomologous end-joining ( Inagaki et al. 2007 ), respectively. Second, cleaved hairpins may impose a
mutational
...
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Research
:
A novel quantitative trait locus implicates
Msh3
in the propensity for genome-wide short tandem repeat expansions in mice
Mikhail O. Maksimov
,
Cynthia Wu
,
David G. Ashbrook
,
Flavia Villani
,
Vincenza Colonna
,
Nima Mousavi
,
Nichole Ma
,
Lu Lu
,
Jonathan K. Pritchard
,
Alon Goren
,
Robert W. Williams
,
Abraham A. Palmer
,
and
Melissa Gymrek
Genome Res.
May 2023
33
:
689
-
702
;
Published in Advance
May 1, 2023
,
doi:
10.1101/gr.277576.122
...
repair
(Cmya5 and Zcchc9), but it is unclear how those would contribute to an STR
mutator
phenotype.Msh3 is well known to be involved in regulating STR stability. Msh3 is one of multiple homologs of the Escherichia coli MutS MMR protein, which recognizes
mismatched
bases in
DNA
that arise during
DNA
...
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Research
:
Telomerase-independent survival leads to a mosaic of complex subtelomere rearrangements in
Chlamydomonas reinhardtii
Frédéric Chaux
,
Nicolas Agier
,
Clotilde Garrido
,
Gilles Fischer
,
Stephan Eberhard
,
and
Zhou Xu
Genome Res.
September 2023
33
:
1582
-
1598
;
Published in Advance
August 14, 2023
,
doi:
10.1101/gr.278043.123
...to
repair
attempts and bypass of the checkpoint arrest through the adaptation to
DNA
damage process (Blasco et al. 1997; Lee et al. 1998; Chin et al. 1999; Artandi et al. 2000; Hackett et al. 2001; Hackett and Greider 2003; Maciejowski et al. 2015; Coutelier et al. 2018; Henninger and Teixeira 2020...
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Research
:
Whole-exome sequencing of human pancreatic cancers and characterization of genomic instability caused by
MLH1
haploinsufficiency and complete deficiency
Linghua Wang
,
Shuichi Tsutsumi
,
Tokuichi Kawaguchi
,
Koichi Nagasaki
,
Kenji Tatsuno
,
Shogo Yamamoto
,
Fei Sang
,
Kohtaro Sonoda
,
Minoru Sugawara
,
Akio Saiura
,
Seiko Hirono
,
Hiroki Yamaue
,
Yoshio Miki
,
Minoru Isomura
,
Yasushi Totoki
,
Genta Nagae
,
Takayuki Isagawa
,
Hiroki Ueda
,
Satsuki Murayama-Hosokawa
,
Tatsuhiro Shibata
,
Hiromi Sakamoto
,
Yae Kanai
,
Atsushi Kaneda
,
Tetsuo Noda
,
and
Hiroyuki Aburatani
Genome Res.
February 2012
22
:
208
-
219
;
Published in Advance
December 7, 2011
,
doi:
10.1101/gr.123109.111
...). Its molecular basis iswell understood inhereditary cancers, inwhich it has been linked to
mutations
in
DNA
mismatch
repair
(MMR) genes. One of the best-documented examples is the hereditary nonpolyposis colon cancer (HNPCC). In general, MMR defects are the result of a germline
mutation
in one...
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LETTER
:
Unexpected complexity at breakpoint junctions in phenotypically normal individuals and mechanisms involved in generating balanced translocations t(1;22)(p36;q13)
Marzena Gajecka
,
Andrew J. Gentles
,
Albert Tsai
,
David Chitayat
,
Katherine L. Mackay
,
Caron D. Glotzbach
,
Michael R. Lieber
,
and
Lisa G. Shaffer
Genome Res.
November 2008
18
:
1733
-
1742
;
Published in Advance
September 2, 2008
,
doi:
10.1101/gr.077453.108
...of chromosome 22, and the microhomology is extended by polymerase μ or λ, which accidently polymerizes a G–T
mismatch
during the process. The
mismatch
is aberrantly
repaired
, resulting in a one-base
mutation
. The remaining 3′ overhang end of chromosome 1 has some microhomology in the 5′ overhang end...
Abstract
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Research
:
Chromatin structure influences rate and spectrum of spontaneous mutations in
Neurospora crassa
Mariana Villalba de la Peña
,
Pauliina A.M. Summanen
,
Martta Liukkonen
,
and
Ilkka Kronholm
Genome Res.
April 2023
33
:
599
-
611
;
Published in Advance
March 15, 2023
,
doi:
10.1101/gr.276992.122
...why heterochromatic regions have a higher
mutation
rate. In yeast, actively transcribed regions contain acetylation at H3K56, which suppresses spontaneous
mutations
(Kadyrova et al. 2013). Moreover, analyses based on human tumors suggest that
DNA
mismatch
repair
works more efficiently in euchromatin...
Abstract
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