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 mutationsIntronsAlleles
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