BMC Genetics, 2001 Background Genomic instability has been reported at microsatellite tracts in few coding sequences. We have shown that the Bloom syndrome BLM gene may be a target of microsatelliteinstability (MSI) in a short poly-adenine repeat located in its coding ...
Matei Irina +6 more
doaj +3 more sources
Alternative oxidase causes cell type- and tissue-specific responses in mutator mice
Life Science Alliance, 2023 Expression of the alternative oxidase in mtDNA mutator mice improves their blood phenotype but enhances inflammatory and stress responses in skeletal muscle.
Lilli Ikonen +5 more
doaj +1 more source
Phenotypic Evolution by Neutral Mutation [PDF]
Evolution, 1986 A general model is developed for predicting the genetic variance within populations and the rate of divergence of population mean phenotypes for quantitative traits under the joint operation of random sampling drift and mutation in the absence of selection.
Michael, Lynch, William G, Hill
openaire +2 more sources
Post-translational decrease in respiratory chain proteins in the Polg mutator mouse brain. [PDF]
PLoS ONE, 2014 Mitochondrial DNA damage is thought to be a causal contributor to aging as mice with inactivating mutations in polymerase gamma (Polg) develop a progeroid phenotype.
David N Hauser +4 more
doaj +1 more source
Incompatibilities involving yeast mismatch repair genes: a role for genetic modifiers and implications for disease penetrance and variation in genomic mutation rates. [PDF]
PLoS Genetics, 2008 Genetic background effects underlie the penetrance of most genetically determined phenotypes, including human diseases. To explore how such effects can modify a mutant phenotype in a genetically tractable system, we examined an incompatibility involving ...
Ann Demogines +3 more
doaj +1 more source
Mutator suppression and escape from replication error-induced extinction in yeast. [PDF]
PLoS Genetics, 2011 Cells rely on a network of conserved pathways to govern DNA replication fidelity. Loss of polymerase proofreading or mismatch repair elevates spontaneous mutation and facilitates cellular adaptation.
Alan J Herr +7 more
doaj +1 more source
Phenotypic variant of CLN3 mutation
American Journal of Ophthalmology Case Reports, 2022 To report a case of bilateral chorioretinal scarring due to CLN3 heterozygous deletion in an asymptomatic patient.A 63 year-old patient with a history of well-controlled diabetes presented as a referral for diabetic retinopathy. He was asymptomatic with 20/20 visual acuity in both eyes.
Avinash Honasoge, Bradley T. Smith
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Phenotypic and genetic consequences of protein damage. [PDF]
PLoS Genetics, 2013 Although the genome contains all the information necessary for maintenance and perpetuation of life, it is the proteome that repairs, duplicates and expresses the genome and actually performs most cellular functions.
Anita Krisko, Miroslav Radman
doaj +1 more source
Clinical Phenotype of FASTKD2 Mutation
Journal of Pediatric Neurosciences, 2021 Mitochondrial disorders (MIDs) are frequently multisystemic in nature and cause significant morbidity and mortality. Accurate assessment of mitochondrial disease prevalence has been difficult in the past. Primary MIDs are due to mutations in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA)-located genes.
Shah, Ritesh, Balasubramaniam, Seema
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dnaX36 mutator of Escherichia coli: effects of the tau subunit of the DNA polymerase III holoenzyme on chromosomal DNA replication fidelity. [PDF]
, 2011 The Escherichia coli dnaX36 mutant displays a mutator effect, reflecting a fidelity function of the dnaX-encoded τ subunit of the DNA polymerase III (Pol III) holoenzyme.
Jonczyk, Piotr +7 more
core +1 more source