1998
A Global Haplotype Analysis of the Myotonic Dystrophy Locus: Implications for the Evolution of Modern Humans and for the Origin of Myotonic Dystrophy Mutations
Tishkoff S, Goldman A, Calafell F, Speed W, Deinard A, Bonne-Tamir B, Kidd J, Pakstis A, Jenkins T, Kidd K. A Global Haplotype Analysis of the Myotonic Dystrophy Locus: Implications for the Evolution of Modern Humans and for the Origin of Myotonic Dystrophy Mutations. American Journal Of Human Genetics 1998, 62: 1389-1402. PMID: 9585589, PMCID: PMC1377140, DOI: 10.1086/301861.Peer-Reviewed Original ResearchMeSH KeywordsAllelesAnimalsEvolution, MolecularGene FrequencyHaplotypesHumansLinkage DisequilibriumMutationMyotonic DystrophyPrimatesTrinucleotide RepeatsConceptsNon-African populationsHaplotype diversityMyotonic dystrophy locusRecent African origin modelLinkage disequilibriumMyotonic dystrophy mutationModern human evolutionModern humansGlobal haplotype analysisMutation eventsStrong linkage disequilibriumNonhuman primate speciesPrimate speciesHuman evolutionHuman populationShared patternLong CAG/CTG repeats in mice
King B, Sirugo G, Nadeau J, Hudson T, Kidd K, Kacinski B, Schalling M. Long CAG/CTG repeats in mice. Mammalian Genome 1998, 9: 392-393. PMID: 9545500, DOI: 10.1007/s003359900778.Peer-Reviewed Original Research
1997
A Novel, Heritable, Expanding CTG Repeat in an Intron of the SEF2-1 Gene on Chromosome 18q21.1
Breschel T, McInnis M, Margolis R, Sirugo G, Corneliussen B, Simpson S, McMahon F, MacKinnon D, Xu J, Pleasant N, Huo Y, Ashworth R, Grundstrom C, Grundstrom T, Kidd K, DePaulo J, Ross C. A Novel, Heritable, Expanding CTG Repeat in an Intron of the SEF2-1 Gene on Chromosome 18q21.1. Human Molecular Genetics 1997, 6: 1855-1863. PMID: 9302263, DOI: 10.1093/hmg/6.11.1855.Peer-Reviewed Original ResearchMeSH KeywordsAllelesBase SequenceBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsBipolar DisorderBlotting, SouthernCell LineChromosomes, Human, Pair 18Cloning, MolecularDNA-Binding ProteinsFemaleGene FrequencyHelix-Loop-Helix MotifsHumansIntronsMaleMolecular Sequence DataPedigreeSequence AnalysisTCF Transcription FactorsTrans-ActivatorsTranscription Factor 4Transcription Factor 7-Like 2 ProteinTranscription FactorsTrinucleotide RepeatsConceptsCEPH reference pedigreesSouthern blot analysisReference pedigreesUnstable alleleDNA binding proteinTriplet repeat mutationBlot analysisCTG repeatsTranscriptional regulationGenomic digestsHuman chromosomesKb cloneStable allelesCandidate genesAbnormal phenotypeBinding proteinRepeatsRepeat lociBipolar pedigreesGenesChromosome 18q21.1Repeat mutationsSomatic mutationsIntronsAllelesDetection of a large CTG/CAG trinucleotide repeat expansion in a Danish schizophrenia kindred
Sirugo G, Pakstis A, Kidd K, Matthysse S, Levy D, Holzman P, Párnas J, McInnis M, Breschel T, Ross C. Detection of a large CTG/CAG trinucleotide repeat expansion in a Danish schizophrenia kindred. American Journal Of Medical Genetics 1997, 74: 546-548. PMID: 9342210, DOI: 10.1002/(sici)1096-8628(19970919)74:5<546::aid-ajmg19>3.0.co;2-c.Peer-Reviewed Original ResearchAllelesChromosomes, Human, Pair 18DenmarkGenetic MarkersHumansPedigreeSchizophreniaTrinucleotide RepeatsSurvey of Maximum CTG/CAG Repeat Lengths in Humans and Non-Human Primates: Total Genome Scan in Populations Using the Repeat Expansion Detection Method
Sirugo G, Deinard A, Kidd J, Kidd K. Survey of Maximum CTG/CAG Repeat Lengths in Humans and Non-Human Primates: Total Genome Scan in Populations Using the Repeat Expansion Detection Method. Human Molecular Genetics 1997, 6: 403-408. PMID: 9147643, DOI: 10.1093/hmg/6.3.403.Peer-Reviewed Original ResearchConceptsCTG/CAGPygmy chimpanzeesCommon chimpanzeesRepeat lengthRandom genetic driftOrang-utansHuman populationDisease association studiesGenetic driftHuman genomeOverall mutation rateGenome scanAssociation studiesMutation rateBiaka PygmiesExpansion mutationRepeat expansionTotal genome scanPopulation differencesPopulation stratificationNon-human primatesRepeat expansion detection (RED) methodExpansion detectionChimpanzeesMutations
1996
Chromosomal localization of long trinucleotide repeats in the human genome by fluorescence in situ hybridization
Haaf T, Sirugo G, Kidd K, Ward D. Chromosomal localization of long trinucleotide repeats in the human genome by fluorescence in situ hybridization. Nature Genetics 1996, 12: 183-185. PMID: 8563757, DOI: 10.1038/ng0296-183.Peer-Reviewed Original ResearchConceptsLong trinucleotide repeatsChromosomal localizationTrinucleotide repeatsHuman genomeNormal human genomeSitu hybridizationDifferent genetic diseasesUnstable trinucleotide repeatsChromosomal distributionTrinucleotide microsatellitesLarge repeatsAGG repeatsCCG repeatsRepeatsGenetic diseasesRepeat lociLarge CTG expansionsGenomeCTG expansionHybridizationPathological significanceMyotonic dystrophyMicrosatellitesLocalizationLoci