2015
An integrated map of structural variation in 2,504 human genomes
Sudmant PH, Rausch T, Gardner EJ, Handsaker RE, Abyzov A, Huddleston J, Zhang Y, Ye K, Jun G, Hsi-Yang Fritz M, Konkel MK, Malhotra A, Stütz AM, Shi X, Paolo Casale F, Chen J, Hormozdiari F, Dayama G, Chen K, Malig M, Chaisson MJP, Walter K, Meiers S, Kashin S, Garrison E, Auton A, Lam HYK, Jasmine Mu X, Alkan C, Antaki D, Bae T, Cerveira E, Chines P, Chong Z, Clarke L, Dal E, Ding L, Emery S, Fan X, Gujral M, Kahveci F, Kidd JM, Kong Y, Lameijer EW, McCarthy S, Flicek P, Gibbs RA, Marth G, Mason CE, Menelaou A, Muzny DM, Nelson BJ, Noor A, Parrish NF, Pendleton M, Quitadamo A, Raeder B, Schadt EE, Romanovitch M, Schlattl A, Sebra R, Shabalin AA, Untergasser A, Walker JA, Wang M, Yu F, Zhang C, Zhang J, Zheng-Bradley X, Zhou W, Zichner T, Sebat J, Batzer MA, McCarroll SA, Mills R, Gerstein M, Bashir A, Stegle O, Devine S, Lee C, Eichler E, Korbel J. An integrated map of structural variation in 2,504 human genomes. Nature 2015, 526: 75-81. PMID: 26432246, PMCID: PMC4617611, DOI: 10.1038/nature15394.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceGenetic Predisposition to DiseaseGenetic VariationGenetics, MedicalGenetics, PopulationGenome, HumanGenome-Wide Association StudyGenomicsGenotypeHaplotypesHomozygoteHumansMolecular Sequence DataMutation RatePhysical Chromosome MappingPolymorphism, Single NucleotideQuantitative Trait LociSequence Analysis, DNASequence DeletionConceptsStructural variantsHuman genomeExpression quantitative trait lociGenome-wide association studiesIndividual mutational eventsQuantitative trait lociComplex structural variantsHomozygous gene knockoutsDNA sequencing dataLoci subjectTrait lociHuman genesGene knockoutIntegrated mapSequencing dataAssociation studiesMutational eventsHaplotype blocksVariant classesFunctional impactPopulation stratificationGenomeNumerous diseasesHuman populationStructural variations
2007
UmuD and RecA Directly Modulate the Mutagenic Potential of the Y Family DNA Polymerase DinB
Godoy V, Jarosz D, Simon S, Abyzov A, Ilyin V, Walker G. UmuD and RecA Directly Modulate the Mutagenic Potential of the Y Family DNA Polymerase DinB. Molecular Cell 2007, 28: 1058-1070. PMID: 18158902, PMCID: PMC2265384, DOI: 10.1016/j.molcel.2007.10.025.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceBinding SitesBlotting, Far-WesternDNA Polymerase betaDNA-Directed DNA PolymeraseEscherichia coliEscherichia coli ProteinsModels, MolecularMolecular Sequence DataMutagenesisMutationProtein BindingProtein Structure, TertiaryRec A RecombinasesSequence Homology, Amino AcidConceptsRegulatory protein-protein interactionsDNA damage-inducible proteinProtein-protein interactionsY-family DNA polymerasesFamily DNA polymerasesMutagenic phenotypeOpen active siteDinBRecAMutagenic potentialDNA polymeraseFrameshift mutagenesisProteinStructural modelingActive siteEukaryotesOrthologsArchaeaUmuDMutagenesisPolymerasePhenotypeBacteriaSitesEvolution