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
1984
Identification of a recent recombination event within the human beta-globin gene cluster.
Gerhard D, Kidd K, Kidd J, Egeland J, Housman D. Identification of a recent recombination event within the human beta-globin gene cluster. Proceedings Of The National Academy Of Sciences Of The United States Of America 1984, 81: 7875-7879. PMID: 6096866, PMCID: PMC392255, DOI: 10.1073/pnas.81.24.7875.Peer-Reviewed Original ResearchConceptsBeta-globin gene clusterHuman beta-globin gene clusterGene clusterRecombination eventsChromosome 11DNA sequence polymorphismsRecent recombination eventsGenetic recombination eventsMeiotic crossingDNA regionsDNA markersC-Ha-rasSequence polymorphismsReference pedigreesCrossover eventsOncogene c-Ha-rasPreproparathyroid hormoneSegment 12PedigreeD11S12HaplotypesInheritanceClustersRegionHot spots