2021
Genetic diversity of the North African population revealed by the typing of SNPs in the DRD2/ANKK1 genomic region
Mestiri S, Boussetta S, Pakstis AJ, Elkamel S, Elgaaied ABA, Kidd KK, Cherni L. Genetic diversity of the North African population revealed by the typing of SNPs in the DRD2/ANKK1 genomic region. Gene 2021, 777: 145466. PMID: 33524518, DOI: 10.1016/j.gene.2021.145466.Peer-Reviewed Original ResearchMeSH KeywordsAdultAfrica, NorthernAllelesBlack PeopleEthnicityFemaleGene FrequencyGenetic Predisposition to DiseaseGenetic VariationGenomicsGenotypeGenotyping TechniquesHaplotypesHeterozygoteHuman MigrationHumansLinkage DisequilibriumMaleMiddle AgedPolymorphism, Single NucleotideProtein Serine-Threonine KinasesReceptors, Dopamine D2ConceptsNorth African populationsGenetic diversitySingle nucleotide polymorphismsGenetic structureAncestral gene poolPeculiar genetic structureLowest average heterozygosityNorth African onesAfrican populationsHigh linkage disequilibriumGenetic driftGenomic regionsAverage heterozygosityGene poolSame locusLinkage disequilibriumDisequilibrium analysisGenetic componentGenesNucleotide polymorphismsLociReceptor geneDiversityHuman populationEuropean populations
2011
Hunter-gatherer genomic diversity suggests a southern African origin for modern humans
Henn BM, Gignoux CR, Jobin M, Granka JM, Macpherson JM, Kidd JM, Rodríguez-Botigué L, Ramachandran S, Hon L, Brisbin A, Lin AA, Underhill PA, Comas D, Kidd KK, Norman PJ, Parham P, Bustamante CD, Mountain JL, Feldman MW. Hunter-gatherer genomic diversity suggests a southern African origin for modern humans. Proceedings Of The National Academy Of Sciences Of The United States Of America 2011, 108: 5154-5162. PMID: 21383195, PMCID: PMC3069156, DOI: 10.1073/pnas.1017511108.Peer-Reviewed Original ResearchConceptsHunter-gatherer populationsAfrican hunter-gatherer populationsModern humansGenome-wide linkage disequilibriumModern human populationsSex-biased migrationSevere population bottleneckLinkage disequilibriumSouthern African originHuman prehistoryAfrican populationsComplex historyPopulation differentiationPopulation bottlenecksGenetic diversityGenomic diversityEastern AfricaGenetic variationAfrican originPopulation todaySouthern AfricaGeographic patternsContinent of originAfricaSouth Africa
2008
The complex global pattern of genetic variation and linkage disequilibrium at catechol-O-methyltransferase
Mukherjee N, Kidd K, Pakstis A, Speed W, Li H, Tarnok Z, Barta C, Kajuna S, Kidd J. The complex global pattern of genetic variation and linkage disequilibrium at catechol-O-methyltransferase. Molecular Psychiatry 2008, 15: 216-225. PMID: 18574484, PMCID: PMC2811226, DOI: 10.1038/mp.2008.64.Peer-Reviewed Original ResearchConceptsNon-synonymous single nucleotide polymorphismsSingle nucleotide polymorphismsGenetic variationDiverse evolutionary lineagesFuture association studiesEvolutionary lineagesPromoter regionAssociation studiesGenesLinkage disequilibriumFunctional consequencesUndetected variantsNucleotide polymorphismsCommon haplotypeComplex global patternsGlobal patternsDNA samplesHaplotypesLineagesExonsHaplotypic combinationsKbDNACOMT geneOnly variation
2004
Indications of Linkage and Association of Gilles de la Tourette Syndrome in Two Independent Family Samples: 17q25 Is a Putative Susceptibility Region
Paschou P, Feng Y, Pakstis A, Speed W, DeMille M, Kidd J, Jaghori B, Kurlan R, Pauls D, Sandor P, Barr C, Kidd K. Indications of Linkage and Association of Gilles de la Tourette Syndrome in Two Independent Family Samples: 17q25 Is a Putative Susceptibility Region. American Journal Of Human Genetics 2004, 75: 545-560. PMID: 15303240, PMCID: PMC1182043, DOI: 10.1086/424389.Peer-Reviewed Original ResearchMeSH KeywordsC-Reactive ProteinChromosome MappingChromosomes, Human, Pair 17Gene FrequencyGenetic LinkageGenetic Predisposition to DiseaseGenotypeHaplotypesHumansLinkage DisequilibriumLod ScoreMicrosatellite RepeatsMicrotubule-Associated ProteinsNerve Tissue ProteinsPedigreePolymorphism, Single NucleotideTourette SyndromeWhite PeopleConceptsSingle nucleotide polymorphismsLinkage disequilibriumSusceptibility regionsThree-site haplotypesPutative susceptibility regionsBackground linkage disequilibriumSignificant association resultsIndication of linkageNonparametric LOD scoreGenomic regionsThree-marker haplotypeComplex genetic backgroundAdditional microsatellite markersFine mappingGenetic basisHigher LD valuesMicrosatellite markersExpression profilesAssociation resultsTransmission/disequilibrium testChromosome 17Genetic componentGenetic backgroundGenesLOD scoreThe 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
2000
Worldwide Genetic Analysis of the CFTR Region
Mateu E, Calafell F, Lao O, Bonné-Tamir B, Kidd J, Pakstis A, Kidd K, Bertranpetit J. Worldwide Genetic Analysis of the CFTR Region. American Journal Of Human Genetics 2000, 68: 103-117. PMID: 11104661, PMCID: PMC1234903, DOI: 10.1086/316940.Peer-Reviewed Original ResearchConceptsCystic fibrosis transmembrane conductance regulator (CFTR) geneShort tandem repeat polymorphismsSingle nucleotide polymorphismsLinkage disequilibriumHaplotype backgroundTransmembrane conductance regulator geneWorldwide population samplesModern human populationsHaplotype variationHigh heterozygosityCFTR regionOut of AfricaRegulator geneSevere genetic disorderGenetic analysisMutation rateDifferent haplotypesAncestral haplotypeAllele sizeOutcome of differencesSNP haplotypesLD analysisNon-AfricansHaplotypesLD measuresShort Tandem-Repeat Polymorphism/Alu Haplotype Variation at the PLAT Locus: Implications for Modern Human Origins
Tishkoff S, Pakstis A, Stoneking M, Kidd J, Destro-Bisol G, Sanjantila A, Lu R, Deinard A, Sirugo G, Jenkins T, Kidd K, Clark A. Short Tandem-Repeat Polymorphism/Alu Haplotype Variation at the PLAT Locus: Implications for Modern Human Origins. American Journal Of Human Genetics 2000, 67: 901-925. PMID: 10986042, PMCID: PMC1287905, DOI: 10.1086/303068.Peer-Reviewed Original ResearchMeSH KeywordsAfrica South of the SaharaAllelesAlu ElementsAnimalsChromosomes, Human, Pair 8Dinucleotide RepeatsEvolution, MolecularGene FrequencyGenetic VariationHaplotypesHominidaeHumansLinkage DisequilibriumMicronesiaPapua New GuineaPhylogenyPolymorphism, GeneticSequence DeletionTandem Repeat SequencesConceptsNon-African populationsHaplotype variationGene flowLinkage disequilibriumShort tandem repeat polymorphismsHaplotype diversityPLAT locusLarge effective population sizesAncient gene flowEffective population sizeDinucleotide short tandem repeat polymorphismsRecent common ancestryAlu insertion/deletion polymorphismHuman evolutionary historyDiverse human populationsModern human originsEvolutionary historyCommon ancestryAfrican populationsPopulation substructureAlu elementsPolymorphic Alu elementsPopulation sizeRare haplotypesDinucleotide repeats
1999
Linkage Disequilibrium at the ADH2 and ADH3 Loci and Risk of Alcoholism
Osier M, Pakstis A, Kidd J, Lee J, Yin S, Ko H, Edenberg H, Lu R, Kidd K. Linkage Disequilibrium at the ADH2 and ADH3 Loci and Risk of Alcoholism. American Journal Of Human Genetics 1999, 64: 1147-1157. PMID: 10090900, PMCID: PMC1377839, DOI: 10.1086/302317.Peer-Reviewed Original ResearchMeSH KeywordsAlcohol DehydrogenaseAlcoholismAllelesBase SequenceChinaChromosomes, Human, Pair 4Cloning, MolecularGene FrequencyGenetic Predisposition to DiseaseGenetic VariationHaplotypesHumansIndians, Central AmericanLinkage DisequilibriumMexicoMolecular Sequence DataMultigene FamilyNative Hawaiian or Other Pacific IslanderPolymorphism, Single NucleotideRacial GroupsTaiwanConceptsProportion of chromosomesAlcohol dehydrogenase geneDehydrogenase geneChromosome 4Functional variantsChromosomesLinkage disequilibriumADH2Functional polymorphismsADH3Allele frequenciesPairwise disequilibriumGenesIntronic polymorphismDisequilibriumPolymorphismDifferent efficienciesRisk of alcoholismHigher VmaxClass I alcohol dehydrogenase (ADH) genesVariantsLociKbHaplotypesPopulation
1998
A Global Haplotype Analysis of the Myotonic Dystrophy Locus: Implications for the Evolution of Modern Humans and for the Origin of Myotonic Dystrophy Mutations
Tishkoff S, Goldman A, Calafell F, Speed W, Deinard A, Bonne-Tamir B, Kidd J, Pakstis A, Jenkins T, Kidd K. A Global Haplotype Analysis of the Myotonic Dystrophy Locus: Implications for the Evolution of Modern Humans and for the Origin of Myotonic Dystrophy Mutations. American Journal Of Human Genetics 1998, 62: 1389-1402. PMID: 9585589, PMCID: PMC1377140, DOI: 10.1086/301861.Peer-Reviewed Original ResearchConceptsNon-African populationsHaplotype diversityMyotonic dystrophy locusRecent African origin modelLinkage disequilibriumMyotonic dystrophy mutationModern human evolutionModern humansGlobal haplotype analysisMutation eventsStrong linkage disequilibriumNonhuman primate speciesPrimate speciesHuman evolutionHuman populationShared pattern
1996
Global Patterns of Linkage Disequilibrium at the CD4 Locus and Modern Human Origins
Tishkoff S, Dietzsch E, Speed W, Pakstis A, Kidd J, Cheung K, Bonné-Tamir B, Santachiara-Benerecetti A, Moral P, Krings M, Pääbo S, Watson E, Risch N, Jenkins T, Kidd K. Global Patterns of Linkage Disequilibrium at the CD4 Locus and Modern Human Origins. Science 1996, 271: 1380-1387. PMID: 8596909, DOI: 10.1126/science.271.5254.1380.Peer-Reviewed Original Research
1990
The locus for the medium-chain acyl-CoA dehydrogenase gene on chromosome 1 is highly polymorphic
Kidd J, Matsubara Y, Castiglione C, Tanaka K, Kidd K. The locus for the medium-chain acyl-CoA dehydrogenase gene on chromosome 1 is highly polymorphic. Genomics 1990, 6: 89-93. PMID: 1968047, DOI: 10.1016/0888-7543(90)90451-y.Peer-Reviewed Original ResearchConceptsRestriction fragment length polymorphismMedium-chain acyl-CoA dehydrogenase (MCAD) geneAcyl-CoA dehydrogenase geneSomatic cell studiesMedium-chain acyl-CoA dehydrogenaseSignificant linkage disequilibriumAcyl-CoA dehydrogenaseLinkage mappingDehydrogenase geneRegional assignmentChromosome 1Fragment length polymorphismGenetic studiesLinkage analysisLinkage disequilibriumSitu hybridizationLength polymorphismLinkage studiesPGM1Clinical genetic studiesACADMGenesLociCell localizationRFLP systems
1988
The human “interferon-β2/hepatocyte stimulating factor/interleukin-6” gene: DNA polymorphism studies and localization to chromosome 7p21
Bowcock A, Kidd J, Lathrop G, Daneshvar L, May L, Ray A, Sehgal P, Kidd K, Cavalli-Sforza L. The human “interferon-β2/hepatocyte stimulating factor/interleukin-6” gene: DNA polymorphism studies and localization to chromosome 7p21. Genomics 1988, 3: 8-16. PMID: 2906047, DOI: 10.1016/0888-7543(88)90152-8.Peer-Reviewed Original ResearchConceptsHybridoma growth factorChromosome 7 markersPolymorphic MspI siteDNA polymorphism studiesBase pair substitutionsDNA replicationDNA insertionFifth exonGene productsProtein responseEnzyme MspIAT dinucleotidesVariety of haplotypesBglI polymorphismFactor/interleukinGenesLinkage disequilibriumMspI sitePolymorphic sitesPair substitutionsMspILinkage studiesFactor 2Polymorphism studiesKbD10S20, a previously unmapped RFLP (OS-3), is located on 10q near D10S4
Miki T, Nishisho I, Tateishi H, Chen Y, Kidd J, Wu J, Pravtcheva D, Pakstis A, Takai S, Ruddle F, Kidd K. D10S20, a previously unmapped RFLP (OS-3), is located on 10q near D10S4. Genomics 1988, 3: 78-81. PMID: 2906046, DOI: 10.1016/0888-7543(88)90163-2.Peer-Reviewed Original ResearchConceptsSomatic cell hybrid DNAsCell hybrid DNAsComparative mapping studiesTaqI RFLPMouse genomic DNASouthern blot analysisCM distalHybrid DNAChromosome 10Genomic DNARsaI RFLPGenetic linkageStrong linkage disequilibriumHuman cloneLinkage disequilibriumLong armBlot analysisRFLPMapping studiesLociDNAClonesBanIIDisequilibriumProbe