1999
Evolution of the HOXB6 intergenic region: Motif conservation at the lateral plate mesoderm (LPM) enhancer element
Deinard A, Dorit R, Castiglione C, Jiang Z, Becker D, Ruddle F, Schugart K, Kidd K. Evolution of the HOXB6 intergenic region: Motif conservation at the lateral plate mesoderm (LPM) enhancer element. Journal Of Experimental Zoology 1999, 285: 170-176. PMID: 10440728, DOI: 10.1002/(sici)1097-010x(19990815)285:2<170::aid-jez9>3.0.co;2-j.Peer-Reviewed Original ResearchEvolution of a HOXB6 intergenic region within the great apes and humans
Deinard A, Kidd K. Evolution of a HOXB6 intergenic region within the great apes and humans. Journal Of Human Evolution 1999, 36: 687-703. PMID: 10330333, DOI: 10.1006/jhev.1999.0298.Peer-Reviewed Original ResearchConceptsCommon ancestorGenetic variationGenetic dataIntraspecific genetic variationHomo-Pan cladeGreat apesNuclear lociGreat ape speciesMolecular evolutionIntraspecific dataPhylogenetic reconstructionIntergenic regionIntraspecific variationDNA sequencesNucleotide substitutionsGenetic polymorphismsHomo-PanPygmy chimpanzeesApe speciesCommon chimpanzeesCladeHomo sapiens sapiensAncestorGorillasLociAllele Frequencies in a Worldwide Survey of a CA Repeat in the First Intron of the CFTR Gene
Mateu E, Calafell F, Bonné-Tamir B, Kidd J, Casals T, Kidd K, Bertranpetit J. Allele Frequencies in a Worldwide Survey of a CA Repeat in the First Intron of the CFTR Gene. Human Heredity 1999, 49: 15-20. PMID: 9858852, DOI: 10.1159/000022834.Peer-Reviewed Original ResearchConceptsCFTR geneIntron 1Allele frequenciesMolecular varianceGenetic varianceFirst intronDinucleotide CACA repeatsGenesCF mutationsHaplotypic analysisMutationsMajor geographical areasAfrican populationsUnknown mutationsAllele distributionPolymorphismCystic fibrosisIntronsChromosomesRepeatsGeographical regionsLociHeterozygosityPopulation
1998
Evolution of a D2 Dopamine Receptor Intron Within the Great Apes and Humans
Deinard A, Kidd K. Evolution of a D2 Dopamine Receptor Intron Within the Great Apes and Humans. Mitochondrial DNA Part A 1998, 8: 289-301. PMID: 10993600, DOI: 10.3109/10425179809034074.Peer-Reviewed Original ResearchConceptsDenaturing Gradient Gel ElectrophoresisGenetic variationComparative phylogenetic analysisDNA sequence variationSequence comparative analysisCross-species comparisonsGreat apesEvolutionary relationshipsGradient gel electrophoresisPhylogenetic analysisGeographical rangeSequence variationPygmy chimpanzeesCommon chimpanzeesDNA sequencingDirect DNA sequencingIntronsGel electrophoresisSpeciesChimpanzeesApesSequencingComparative analysisHumansVariation
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 mutationsIntronsAllelesHomozygosity by descent for a rare mutation in the myophosphorylase gene is associated with variable phenotypes in a Druze family with McArdle disease.
Iyengar S, Kalinsky H, Weiss S, Korostishevsky M, Sadeh M, Zhao Y, Kidd K, Bonne-Tamir B. Homozygosity by descent for a rare mutation in the myophosphorylase gene is associated with variable phenotypes in a Druze family with McArdle disease. Journal Of Medical Genetics 1997, 34: 391. PMID: 9152836, PMCID: PMC1050946, DOI: 10.1136/jmg.34.5.391.Peer-Reviewed Original Research
1996
Distribution and frequency of a polymorphicAlu insertion at the plasminogen activator locus in humans
Tishkoff S, Ruano G, Kidd J, Kidd K. Distribution and frequency of a polymorphicAlu insertion at the plasminogen activator locus in humans. Human Genetics 1996, 97: 759-764. PMID: 8641693, DOI: 10.1007/bf02346186.Peer-Reviewed Original ResearchConceptsPlasminogen activator geneHuman populationTissue plasminogen activator geneRestriction fragment length polymorphismActivator geneActivator locusInsertion eventsFragment length polymorphismPLAT locusHuman evolutionPolymerase chain reaction analysisChain reaction analysisLength polymorphismPresence/absenceAllele frequenciesAllelesLociModern humans