1998
OA1 Mutations and Deletions in X-Linked Ocular Albinism
Schnur R, Gao M, Wick P, Keller M, Benke P, Edwards M, Grix A, Hockey A, Jung J, Kidd K, Kistenmacher M, Levin A, Lewis R, Musarella M, Nowakowski R, Orlow S, Pagon R, Pillers D, Punnett H, Quinn G, Tezcan K, Wagstaff J, Weleber R. OA1 Mutations and Deletions in X-Linked Ocular Albinism. American Journal Of Human Genetics 1998, 62: 800-809. PMID: 9529334, PMCID: PMC1377018, DOI: 10.1086/301776.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 mutationsIntronsAllelesConcerted evolution of the tandemly repeated genes encoding human U2 snRNA (the RNU2 locus) involves rapid intrachromosomal homogenization and rare interchromosomal gene conversion
Liao D, Pavelitz T, Kidd J, Kidd K, Weiner A. Concerted evolution of the tandemly repeated genes encoding human U2 snRNA (the RNU2 locus) involves rapid intrachromosomal homogenization and rare interchromosomal gene conversion. The EMBO Journal 1997, 16: 588-598. PMID: 9034341, PMCID: PMC1169662, DOI: 10.1093/emboj/16.3.588.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBase SequenceChromosomesCloning, MolecularDNA, SatelliteElectrophoresis, Agar GelEvolution, MolecularGenetic MarkersHaplotypesHumansLinkage DisequilibriumMolecular Sequence DataPedigreePolymorphism, GeneticPolymorphism, Restriction Fragment LengthPrimatesRecombination, GeneticRepetitive Sequences, Nucleic AcidRNA, Small NuclearSequence AnalysisConceptsU2 tandem arrayTandem arraysConcerted evolutionIntrachromosomal homogenizationU2 snRNAInterchromosomal gene conversionHuman U2 snRNARepeat unitsGenetic exchangeU2 genesGene conversionChromosome lineagesIndependent assortmentFlanking markersDiverse panelGenesMicrosatellite polymorphismSnRNACT alleleSacISacI polymorphismPolymorphismAllelesChromatid exchangesPrimary driving force