2021
STAT3 polymorphisms in North Africa and its implication in breast cancer
Ziadi W, Boussetta S, Elkamel S, Pakstis AJ, Kidd KK, Medimegh I, Elgaaied A, Cherni L. STAT3 polymorphisms in North Africa and its implication in breast cancer. Molecular Genetics & Genomic Medicine 2021, 9: e1744. PMID: 34251094, PMCID: PMC8404238, DOI: 10.1002/mgg3.1744.Peer-Reviewed Original ResearchConceptsNorth African populationsAfrican populationsSTAT3 regionSingle nucleotide polymorphismsRare haplotypesHsa-mirMiR databaseMajor haplotypesGenesNucleotide polymorphismsHaplotypesSNPsSTAT3Allele frequenciesRs7211777Tunisian populationPolymorphismPopulationDiversityNorth AfricaAllelesSignificant frequencyRecombinationAssaysCancer
2020
The distinctive geographic patterns of common pigmentation variants at the OCA2 gene
Kidd KK, Pakstis AJ, Donnelly MP, Bulbul O, Cherni L, Gurkan C, Kang L, Li H, Yun L, Paschou P, Meiklejohn KA, Haigh E, Speed WC. The distinctive geographic patterns of common pigmentation variants at the OCA2 gene. Scientific Reports 2020, 10: 15433. PMID: 32963319, PMCID: PMC7508881, DOI: 10.1038/s41598-020-72262-6.Peer-Reviewed Original ResearchConceptsOculocutaneous albinism type 2Genetic variationOCA2 genePopulation genetic variationGeographic patternsNormal pigmentation variationPigmentation variationSingle nucleotide polymorphismsPositive selectionHypomorphic proteinEnhancer variantsPigmentation variantsGenesNucleotide polymorphismsDistinctive geographic patternsEye colorStrong selection effectsVariant frequencyPigmentationVariantsProteinAllelesVariationDifferent patternsPolymorphism
2017
Microhaplotypes for ancestry prediction
Oldoni F, Hart R, Long K, Maddela K, Cisana S, Schanfield M, Wootton S, Chang J, Lagace R, Hasegawa R, Kidd K, Podini D. Microhaplotypes for ancestry prediction. Forensic Science International Genetics Supplement Series 2017, 6: e513-e515. DOI: 10.1016/j.fsigss.2017.09.209.Peer-Reviewed Original ResearchRandom match probabilityAncestry predictionLow mutation rateAllele frequenciesMH allelesMore SNPsParallel sequencingMutation rateAllelic combinationsIon S5Input DNAIon ChefMicrohaplotypesParental haplotypesLociMPS platformsSequencingAllelesMatch probabilityMinor contributorSTR profilesIndividual strands
2015
Genetic markers for massively parallel sequencing in forensics
Kidd K, Speed W, Wootton S, Lagace R, Langit R, Haigh E, Chang J, Pakstis A. Genetic markers for massively parallel sequencing in forensics. Forensic Science International Genetics Supplement Series 2015, 5: e677-e679. DOI: 10.1016/j.fsigss.2015.12.004.Peer-Reviewed Original ResearchShort tandem repeat polymorphismsSingle nucleotide polymorphismsParallel sequencingSingle single-nucleotide polymorphismSequence readsMore haplotypesSNP panelGenetic markersMultiple allelesAncestry inferenceNucleotide polymorphismsCodominant systemsTandem repeat polymorphismMicrohaplotypesLociSequencingIndividual identificationRepeat polymorphismPolymorphismField of forensicsDNAHaplotypesReadsPhenotypeAlleles
2013
An historical perspective on “The world-wide distribution of allele frequencies at the human dopamine D4 receptor locus”
Kidd KK, Pakstis AJ, Yun L. An historical perspective on “The world-wide distribution of allele frequencies at the human dopamine D4 receptor locus”. Human Genetics 2013, 133: 431-433. PMID: 24162668, DOI: 10.1007/s00439-013-1386-0.Peer-Reviewed Original ResearchConceptsThousands of lociGene frequency patternsPatterns of divergenceRandom genetic driftHuman population geneticsLow-frequency allelesDopamine D4 receptor locusGenetic driftPopulation geneticsImportant genesPopulation variationWorld-wide distributionReceptor locusFrequency allelesDifferent allelesLociDistinct populationsNative American populationsEast Asian populationsAllelesAllele frequenciesSame populationAmerican populationGenesGenetics
2012
High diversity and no significant selection signal of human ADH1B gene in Tibet
Lu Y, Kang L, Hu K, Wang C, Sun X, Chen F, Kidd JR, Kidd KK, Li H. High diversity and no significant selection signal of human ADH1B gene in Tibet. Investigative Genetics 2012, 3: 23. PMID: 23176670, PMCID: PMC3528464, DOI: 10.1186/2041-2223-3-23.Peer-Reviewed Original ResearchSingle nucleotide polymorphismsSelection signalsPositive selectionSignificant positive selectionMicro-evolutionary studiesPositive selection signalsLong-range haplotypesSino-Tibetan populationsDiversification historyADH1B geneGene diversityHaplotype diversityCommon ancestorHuman genesHigh diversityTibetan populationHaplogroupsGenesPolymorphic sitesNucleotide polymorphismsSmall populationDiversityAncestorSouthwest AsiaAlleles
2011
Diversification of the ADH1B Gene during Expansion of Modern Humans
Li H, Gu S, Han Y, Xu Z, Pakstis AJ, Jin L, Kidd JR, Kidd KK. Diversification of the ADH1B Gene during Expansion of Modern Humans. Annals Of Human Genetics 2011, 75: 497-507. PMID: 21592108, PMCID: PMC3722864, DOI: 10.1111/j.1469-1809.2011.00651.x.Peer-Reviewed Original ResearchConceptsShort tandem repeat polymorphismsSingle nucleotide polymorphismsGeographic patternsAncient DNA samplesADH1B geneSelective forcesRegulatory region variantsUnusual geographic distributionMigration eventsCommon haplogroupsDistinct geographic patternsGeographic distributionGenesNucleotide polymorphismsEast Asian populationsTandem repeat polymorphismDNA samplesHaplogroupsWorldwide setAllelesModern humansRegion variantsRepeat polymorphismPolymorphismEast Asia
2004
The Genetic Architecture of Selection at the Human Dopamine Receptor D4 (DRD4) Gene Locus
Wang E, Ding Y, Flodman P, Kidd J, Kidd K, Grady D, Ryder O, Spence M, Swanson J, Moyzis R. The Genetic Architecture of Selection at the Human Dopamine Receptor D4 (DRD4) Gene Locus. American Journal Of Human Genetics 2004, 74: 931-944. PMID: 15077199, PMCID: PMC1181986, DOI: 10.1086/420854.Peer-Reviewed Original ResearchConceptsLittle linkage disequilibriumHuman dopamine receptor D4 genePolymorphic sitesDNA sequence organizationMost polymorphic sitesPatterns of recombinationObserved LD patternRare mutational eventsDRD4 locusGenetic architectureHaplotype diversityPositive selectionMore polymorphismsSequence organizationGene locusTandem repeatsMutational eventsLD patternsLinkage disequilibriumDopamine receptor D4 geneLociPhysiological differencesSame alleleReceptor variantsAlleles
2003
Selective Pressure has not Acted Against Hypercoagulability Alleles in High‐Altitude Amerindians
Rupert J, Monsalve M, Kidd K, Tan C, Hochachka P, Devine D. Selective Pressure has not Acted Against Hypercoagulability Alleles in High‐Altitude Amerindians. Annals Of Human Genetics 2003, 67: 426-432. PMID: 12940916, DOI: 10.1046/j.1469-1809.2003.00043.x.Peer-Reviewed Original Research
1999
Global variation in the frequencies of functionally different catechol-O-methyltransferase alleles
Palmatier M, Kang A, Kidd K. Global variation in the frequencies of functionally different catechol-O-methyltransferase alleles. Biological Psychiatry 1999, 46: 557-567. PMID: 10459407, DOI: 10.1016/s0006-3223(99)00098-0.Peer-Reviewed Original ResearchConceptsRestriction site polymorphismsSingle nucleotide polymorphismsAllele frequenciesDifferent population frequenciesControl allele frequenciesEnzyme activity levelsAncestral alleleCandidate genesPopulation-based association studyAssociation studiesSite polymorphismFirst global surveyNucleotide polymorphismsAllelesEnzyme activityPopulation frequencyPolymorphismDifferent populationsCOMT enzyme activityActivity alleleLow-activity alleleGenesProteinGlobal variationPopulation
1998
Short tandem repeat polymorphism evolution in humans
Calafell F, Shuster A, Speed W, Kidd J, Kidd K. Short tandem repeat polymorphism evolution in humans. European Journal Of Human Genetics 1998, 6: 38-49. PMID: 9781013, DOI: 10.1038/sj.ejhg.5200151.Peer-Reviewed Original ResearchConceptsDinucleotide short tandem repeat polymorphismsStepwise mutation modelSet of populationsPrivate allelesShort tandem repeat polymorphismsGenetic distanceHigh heterozygosityGenetic variationLinkage analysisMutation modelPolymorphism evolutionTandem repeat polymorphismEuropean populationsModern humansHeterozygosityAllelesRepeat polymorphismAfrican sampleReplacement hypothesisEast AsiansDifferentiationHumansPolymorphismPopulationTreesAnalyses of Cross Species Polymerase Chain Reaction Products to Infer the Ancestral State of Human Polymorphisms
Iyengar S, Seaman M, Deinard A, Rosenbaum H, Sirugo G, Castiglione C, Kidd J, Kidd K. Analyses of Cross Species Polymerase Chain Reaction Products to Infer the Ancestral State of Human Polymorphisms. Mitochondrial DNA Part A 1998, 8: 317-327. PMID: 10993602, DOI: 10.3109/10425179809034076.Peer-Reviewed Original ResearchConceptsSingle-strand conformational polymorphismSequence dataUntranslated regionHuman polymorphismsSingle ancestral allelePolymorphic allelesRestriction enzyme sitesAncestral stateExtant populationsGenomic regionsAncestral statusAncestral onesAncestral alleleHuman sequenceHuman allelesStrand conformational polymorphismPCR-RFLPsRestriction fragment length analysisPolymorphic sitesNumerous populationsEnzyme sitesAllelesSpeciesConformational polymorphismPolymerase chain reaction products
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
1996
Dynamics of the haplotype frequencies in populations: study using the Monte Carlo method.
Grigorenko E, Shikanian A, Kidd D, Dorig R, Kidd K. Dynamics of the haplotype frequencies in populations: study using the Monte Carlo method. Genetika 1996, 32: 1705-13. PMID: 9102365.Peer-Reviewed Original ResearchConceptsNatural selectionEffective population sizeRandom genetic driftMonte Carlo methodHaplotype frequenciesGenetic driftRandom matingEvolutionary dynamicsCarlo methodPopulation sizeRecurrent mutationsMutation processHarmonic meanFrequency dynamicsDifferent populationsSimulation resultsExperimental dataDynamicsMatingPopulationMutationsHaplotypesAllelesColonizationNew World colonizationDistribution 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 humansDRD2 Haplotypes Containing the TaqI A1 Allele: Implications for Alcoholism Research
Kidd K, Pakstis A, Castiglione C, Kidd J, Speed W, Goldman D, Knowler W, Lu R, Bonne‐Tamir B. DRD2 Haplotypes Containing the TaqI A1 Allele: Implications for Alcoholism Research. Alcohol Clinical And Experimental Research 1996, 20: 697-705. PMID: 8800387, DOI: 10.1111/j.1530-0277.1996.tb01674.x.Peer-Reviewed Original ResearchMeSH KeywordsAlcoholismAllelesAnimalsChromosome MappingDeoxyribonucleases, Type II Site-SpecificEthnicityGene FrequencyGenetics, PopulationHaplotypesHumansPolymerase Chain ReactionPolymorphism, GeneticPolymorphism, Restriction Fragment LengthReceptors, Dopamine D2Repetitive Sequences, Nucleic AcidResearchConceptsGenetic variationAssociation studiesUnrelated control samplesDopamine D2 receptor locusDiversity of haplotypesShort tandem repeat polymorphismsDRD2 locusEvolutionary historyRestriction fragment length polymorphismPopulation geneticsPhylogenetic originFragment length polymorphismAncestral originReceptor locusHomologous regionsIntron 2LociAllelic systemHigher primatesHaplotypesTandem repeat polymorphismAllelesConsiderable diversityDRD2 haplotypesPolymorphismThe world-wide distribution of allele frequencies at the human dopamine D4 receptor locus
Chang F, Kidd J, Livak K, Pakstis A, Kidd K. The world-wide distribution of allele frequencies at the human dopamine D4 receptor locus. Human Genetics 1996, 98: 91-101. PMID: 8682515, DOI: 10.1007/s004390050166.Peer-Reviewed Original ResearchConceptsImperfect tandem repeatsAllele frequenciesDifferent populationsActual allele frequenciesDopamine D4 receptor locusSelective forcesEvolutionary significanceWorld-wide distributionAssociation studiesReceptor locusTandem repeatsThird exonBase pairsAmino acidsFunctional relevanceRepeatsReceptor geneAllelesLociModern humansPolymorphismD4 receptor geneDopamine D4 receptor geneRepeat polymorphismExons
1995
Apparent monomorphism of ALDH2 in seven American Indian populations
Novoradovsky A, Kidd J, Kidd K, Goldman D. Apparent monomorphism of ALDH2 in seven American Indian populations. Alcohol 1995, 12: 163-167. PMID: 7772269, DOI: 10.1016/0741-8329(94)00086-7.Peer-Reviewed Original ResearchConceptsNew World populationsSouth American Indian populationsALDH2 geneMitochondrial aldehyde dehydrogenaseNorth American populationsALDH2 cDNAALDH2 functionRestriction endonucleasesAldehyde dehydrogenaseConformation polymorphism techniqueSouth American IndiansGenesAllele-specific amplificationAllelesStudied individualsPolymorphism techniquePolymorphismAmerican populationFragmentsAmerican Indian populationsCDNAALDH2EndonucleaseVariantsPopulation
1993
Alleles at the dopamine D4 receptor locus do not contribute to the genetic susceptibility to schizophrenia in a large Swedish kindred
Barr C, Kennedy J, Lichter J, Van Tol H, Wetterberg L, Livak K, Kidd K. Alleles at the dopamine D4 receptor locus do not contribute to the genetic susceptibility to schizophrenia in a large Swedish kindred. American Journal Of Medical Genetics 1993, 48: 218-222. PMID: 8135305, DOI: 10.1002/ajmg.1320480409.Peer-Reviewed Original ResearchConceptsChromosome 11p15.5Receptor geneImperfect direct repeatsDopamine D4 receptor locusD4 receptor geneTyrosine hydroxylase locusDopamine D4 receptor geneSingle haplotypeFirst intronSequence variationCandidate genesG nucleotidesDirect repeatsReceptor locusGenetic markersThird exonLinkage analysisPolymorphic markersGenetic susceptibilityGenesLociClose linkageDRD4 locusAllelesRepeats