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
Minisatellite diversity supports a recent African origin for modern humans
Armour J, Anttinen T, May C, Vega E, Sajantila A, Kidd J, Kidd K, Bertranpetit J, Pääbo S, Jeffreys A. Minisatellite diversity supports a recent African origin for modern humans. Nature Genetics 1996, 13: 154-160. PMID: 8640220, DOI: 10.1038/ng0696-154.Peer-Reviewed Original ResearchConceptsRecent African originNon-African populationsModern human diversityAllelic diversityMinisatellite diversityVariable lociAncestral relationshipsHuman chromosomesAllelic structureAfrican originGreat diversityDiversityHuman diversityAfrican chromosomesChromosomesAllele familiesLociModern humansDifferent populations