Expanding the phenotype of GMPPB mutations [PDF]
Brain, 2015 Dystroglycanopathies are a heterogeneous group of diseases with a broad phenotypic spectrum ranging from severe disorders with congenital muscle weakness, eye and brain structural abnormalities and intellectual delay to adult-onset limb-girdle muscular dystrophies without mental retardation.
Cabrera-Serrano, M. +16 more
openaire +2 more sources
Defective interaction between Pol2p and Dpb2p, subunits of DNA polymerase epsilon, contributes to a mutator phenotype in Saccharomyces cerevisiae. [PDF]
, 2009 Most of the prokaryotic and eukaryotic replicative polymerases are multi-subunit complexes. There are several examples indicating that noncatalytic subunits of DNA polymerases may function as fidelity factors during replication process.
Flis, Krzysztof +7 more
core +1 more source
Proofreading deficiency of Pol I increases the levels of spontaneous rpoB mutations in E. coli [PDF]
, 2011 The fidelity role of DNA polymerase I in chromosomal DNA replication in E. coli was investigated using the rpoB forward target. These experiments indicated that in a strain carrying a proofreading-exonuclease-defective form of Pol I (polAexo mutant) the ...
Jonczyk, Piotr +7 more
core +1 more source
Functional Analysis of Cancer-Associated DNA Polymerase ε Variants in Saccharomyces cerevisiae
G3: Genes, Genomes, Genetics, 2018 DNA replication fidelity relies on base selectivity of the replicative DNA polymerases, exonucleolytic proofreading, and postreplicative DNA mismatch repair (MMR). Ultramutated human cancers without MMR defects carry alterations in the exonuclease domain
Stephanie R. Barbari +3 more
doaj +1 more source
Ultra-deep sequencing of mouse mitochondrial DNA: mutational patterns and their origins. [PDF]
PLoS Genetics, 2011 Somatic mutations of mtDNA are implicated in the aging process, but there is no universally accepted method for their accurate quantification. We have used ultra-deep sequencing to study genome-wide mtDNA mutation load in the liver of normally- and ...
Adam Ameur +6 more
doaj +1 more source
Frontiers in Genetics, 2022 Background: The role of long-chain noncoding RNA (lncRNA) in genomic instability has been demonstrated to be increasingly importance. Therefore, in this study, lncRNAs associated with genomic instability were identified and kidney renal papillary cell ...
Jian Li +10 more
doaj +1 more source
Activation of Dun1 in response to nuclear DNA instability accounts for the increase in mitochondrial point mutations in Rad27/FEN1 deficient S. cerevisiae. [PDF]
PLoS ONE, 2017 Rad27/FEN1 nuclease that plays important roles in the maintenance of DNA stability in the nucleus has recently been shown to reside in mitochondria. Accordingly, it has been established that Rad27 deficiency causes increased mutagenesis, but decreased ...
Aneta Kaniak-Golik +3 more
doaj +1 more source
Mechanisms of glycosylase induced genomic instability. [PDF]
PLoS ONE, 2017 Human alkyladenine DNA glycosylase (AAG) initiates base excision repair (BER) to guard against mutations by excising alkylated and deaminated purines. Counterintuitively, increased expression of AAG has been implicated in increased rates of spontaneous ...
Daniel E Eyler +3 more
doaj +1 more source
Polymorphisms, Chromosomal Rearrangements, and Mutator Phenotype Development during Experimental Evolution of Lactobacillus rhamnosus GG. [PDF]
Appl Environ Microbiol, 2016 Lactobacillus rhamnosus GG is a lactic acid bacterium widely marketed by the food industry. Its genomic analysis led to the identification of a gene cluster encoding mucus-binding SpaCBA pili, which is located in a genomic island enriched in insertion ...
Douillard FP +8 more
europepmc +2 more sources
Evolution and adaptation in Pseudomonas aeruginosa biofilms driven by mismatch repair system-deficient mutators. [PDF]
PLoS ONE, 2011 Pseudomonas aeruginosa is an important opportunistic pathogen causing chronic airway infections, especially in cystic fibrosis (CF) patients. The majority of the CF patients acquire P.
Adela M Luján +5 more
doaj +1 more source