2022
Ancient DNA reveals five streams of migration into Micronesia and matrilocality in early Pacific seafarers
Liu YC, Hunter-Anderson R, Cheronet O, Eakin J, Camacho F, Pietrusewsky M, Rohland N, Ioannidis A, Athens JS, Douglas MT, Ikehara-Quebral RM, Bernardos R, Culleton BJ, Mah M, Adamski N, Broomandkhoshbacht N, Callan K, Lawson AM, Mandl K, Michel M, Oppenheimer J, Stewardson K, Zalzala F, Kidd K, Kidd J, Schurr TG, Auckland K, Hill AVS, Mentzer AJ, Quinto-Cortés CD, Robson K, Kennett DJ, Patterson N, Bustamante CD, Moreno-Estrada A, Spriggs M, Vilar M, Lipson M, Pinhasi R, Reich D. Ancient DNA reveals five streams of migration into Micronesia and matrilocality in early Pacific seafarers. Science 2022, 377: 72-79. PMID: 35771911, PMCID: PMC9983687, DOI: 10.1126/science.abm6536.Peer-Reviewed Original ResearchConceptsEast Asian sourcesStreams of migrationSouthwest Pacific populationsPapuan ancestryRemote OceaniaGenome-wide dataAncient DNAModern individualsNew BritainAsian sourcesMariana ArchipelagoNew GuineansMicronesiaEast AsiansPacific populationsMale migrantsAncestryBritainMatrilocalityOceanianPolynesiansOceaniaCommunityArchipelagoSeafarers
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
2019
Genetic relationships of European, Mediterranean, and SW Asian populations using a panel of 55 AISNPs
Pakstis AJ, Gurkan C, Dogan M, Balkaya HE, Dogan S, Neophytou PI, Cherni L, Boussetta S, Khodjet-El-Khil H, Ben Ammar ElGaaied A, Salvo NM, Janssen K, Olsen GH, Hadi S, Almohammed EK, Pereira V, Truelsen DM, Bulbul O, Soundararajan U, Rajeevan H, Kidd JR, Kidd KK. Genetic relationships of European, Mediterranean, and SW Asian populations using a panel of 55 AISNPs. European Journal Of Human Genetics 2019, 27: 1885-1893. PMID: 31285530, PMCID: PMC6871633, DOI: 10.1038/s41431-019-0466-6.Peer-Reviewed Original ResearchMixture deconvolution by massively parallel sequencing of microhaplotypes
Bennett L, Oldoni F, Long K, Cisana S, Madella K, Wootton S, Chang J, Hasegawa R, Lagacé R, Kidd KK, Podini D. Mixture deconvolution by massively parallel sequencing of microhaplotypes. International Journal Of Legal Medicine 2019, 133: 719-729. PMID: 30758713, DOI: 10.1007/s00414-019-02010-7.Peer-Reviewed Original Research
2014
Inferring population structure and demographic history using Y-STR data from worldwide populations
Xu H, Wang CC, Shrestha R, Wang LX, Zhang M, He Y, Kidd JR, Kidd KK, Jin L, Li H. Inferring population structure and demographic history using Y-STR data from worldwide populations. Molecular Genetics And Genomics 2014, 290: 141-150. PMID: 25159112, DOI: 10.1007/s00438-014-0903-8.Peer-Reviewed Original ResearchConceptsEffective population sizeLarge genetic distancePopulation structureDemographic historyGenetic distanceLarge effective population sizesSmall effective population sizePopulation sizeLow genetic diversitySmall geographical rangesWorldwide population structureOrigin of populationsPopulation genetic studiesClose genetic affinityRecent common ancestorNon-African populationsSerial founder modelGood genetic materialClear geographic patternWorldwide populationEvolutionary historyGenetic diversityCommon ancestorEurasian populationsFuture forensic applicationsMaritime route of colonization of Europe
Paschou P, Drineas P, Yannaki E, Razou A, Kanaki K, Tsetsos F, Padmanabhuni SS, Michalodimitrakis M, Renda MC, Pavlovic S, Anagnostopoulos A, Stamatoyannopoulos JA, Kidd KK, Stamatoyannopoulos G. Maritime route of colonization of Europe. Proceedings Of The National Academy Of Sciences Of The United States Of America 2014, 111: 9211-9216. PMID: 24927591, PMCID: PMC4078858, DOI: 10.1073/pnas.1320811111.Peer-Reviewed Original ResearchConceptsSouthern European coastsGene flowGenome-wide DNA polymorphismsEuropean coastsWest clineDNA polymorphismsNeolithic farmersCoastal routeMediterranean SeaNetwork analysisMediterranean coastMainland EuropeNeolithic populationsCentral EuropeClineCoastGenesColonizationNear EastStriking structurePolymorphismPopulationAnatoliaHypothesisIslandsA Form of the Metabolic Syndrome Associated with Mutations in DYRK1B
Keramati AR, Fathzadeh M, Go GW, Singh R, Choi M, Faramarzi S, Mane S, Kasaei M, Sarajzadeh-Fard K, Hwa J, Kidd KK, Babaee Bigi MA, Malekzadeh R, Hosseinian A, Babaei M, Lifton RP, Mani A. A Form of the Metabolic Syndrome Associated with Mutations in DYRK1B. New England Journal Of Medicine 2014, 370: 1909-1919. PMID: 24827035, PMCID: PMC4069260, DOI: 10.1056/nejmoa1301824.Peer-Reviewed Original ResearchConceptsKinase-like domainMapping susceptibility genesHistidine 90Disease-causing genesFunctional characterizationDisease genesDYRK1BKey gluconeogenic enzymesGenetic analysisCardiovascular risk traitsWhole-exome sequencingDistinct familiesLinkage analysisSecond mutationPosition 102Susceptibility genesFamily membersLarge familyGenesCausative mutationsUnaffected family membersMutationsFunction activityAffected family membersGluconeogenic enzymes
2012
Genome-wide association study of Tourette's syndrome
Scharf JM, Yu D, Mathews CA, Neale BM, Stewart SE, Fagerness JA, Evans P, Gamazon E, Edlund CK, Service SK, Tikhomirov A, Osiecki L, Illmann C, Pluzhnikov A, Konkashbaev A, Davis LK, Han B, Crane J, Moorjani P, Crenshaw AT, Parkin MA, Reus VI, Lowe TL, Rangel-Lugo M, Chouinard S, Dion Y, Girard S, Cath DC, Smit JH, King RA, Fernandez TV, Leckman JF, Kidd KK, Kidd JR, Pakstis AJ, State MW, Herrera LD, Romero R, Fournier E, Sandor P, Barr CL, Phan N, Gross-Tsur V, Benarroch F, Pollak Y, Budman CL, Bruun RD, Erenberg G, Naarden AL, Lee PC, Weiss N, Kremeyer B, Berrío GB, Campbell DD, Cardona Silgado JC, Ochoa WC, Mesa Restrepo SC, Muller H, Valencia Duarte AV, Lyon GJ, Leppert M, Morgan J, Weiss R, Grados MA, Anderson K, Davarya S, Singer H, Walkup J, Jankovic J, Tischfield JA, Heiman GA, Gilbert DL, Hoekstra PJ, Robertson MM, Kurlan R, Liu C, Gibbs JR, Singleton A, Hardy J, Strengman E, Ophoff R, Wagner M, Moessner R, Mirel D, Posthuma D, Sabatti C, Eskin E, Conti D, Knowles J, Ruiz-Linares A, Rouleau G, Purcell S, Heutink P, Oostra B, McMahon W, Freimer N, Cox N, Pauls D. Genome-wide association study of Tourette's syndrome. Molecular Psychiatry 2012, 18: 721-728. PMID: 22889924, PMCID: PMC3605224, DOI: 10.1038/mp.2012.69.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAttention Deficit Disorder with HyperactivityCase-Control StudiesChromosomes, Human, Pair 9FemaleFibrillar CollagensGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansInternational CooperationMaleMeta-Analysis as TopicObsessive-Compulsive DisorderPolymorphism, Single NucleotideTourette SyndromeWhite PeopleYoung AdultConceptsGenome-wide association studiesFirst genome-wide association studyAssociation studiesTop signalsFull genetic architectureAncestry-matched controlsEuropean ancestry samplesGenetic architectureGWAS dataComplex inheritanceEuropean-derived populationsSusceptibility variantsSusceptibility genesEventual identificationEuropean ancestryCosta RicaChromosome 9q32Familial recurrence rateNorth AmericaComplete understandingAmerican populationCentral ValleyNeuropsychiatric diseasesDevelopmental disordersGenes
2011
High altitude adaptation in Daghestani populations from the Caucasus
Pagani L, Ayub Q, MacArthur DG, Xue Y, Baillie JK, Chen Y, Kozarewa I, Turner DJ, Tofanelli S, Bulayeva K, Kidd K, Paoli G, Tyler-Smith C. High altitude adaptation in Daghestani populations from the Caucasus. Human Genetics 2011, 131: 423-433. PMID: 21904933, PMCID: PMC3312735, DOI: 10.1007/s00439-011-1084-8.Peer-Reviewed Original ResearchAn Application of the Elastic Net for an Endophenotype Analysis
Palejev D, Hwang W, Landi N, Eastman M, Frost SJ, Fulbright RK, Kidd JR, Kidd KK, Mason GF, Mencl WE, Yrigollen C, Pugh KR, Grigorenko EL. An Application of the Elastic Net for an Endophenotype Analysis. Behavior Genetics 2011, 41: 120-124. PMID: 21229297, PMCID: PMC3613288, DOI: 10.1007/s10519-011-9443-8.Peer-Reviewed Original Research
1999
Many human endogenous retrovirus K (HERV-K) proviruses are unique to humans
Barbulescu M, Turner G, Seaman M, Deinard A, Kidd K, Lenz J. Many human endogenous retrovirus K (HERV-K) proviruses are unique to humans. Current Biology 1999, 9: 861-s1. PMID: 10469592, DOI: 10.1016/s0960-9822(99)80390-x.Peer-Reviewed Original ResearchConceptsOpen reading frameFull-length open reading frameHuman genome todayReading frameFull length HERVGenome todayGenomes of humansCis-acting sequencesHERV-K provirusesViral open reading framesGorilla genomeHuman genomePrimate evolutionMouse mammary tumor virusComplete sequencingHost genomePreintegration siteHuman endogenous retrovirus KGenomeHERV-K proteinsEndogenous retrovirusesMammary tumor virusTumor virusProvirusMultiple provirusesGlobal 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 variationPopulationGenome scan for linkage to Gilles de la Tourette syndrome
Barr C, Wigg K, Pakstis A, Kurlan R, Pauls D, Kidd K, Tsui L, Sandor P. Genome scan for linkage to Gilles de la Tourette syndrome. American Journal Of Medical Genetics 1999, 88: 437-445. PMID: 10402514, DOI: 10.1002/(sici)1096-8628(19990820)88:4<437::aid-ajmg24>3.0.co;2-e.Peer-Reviewed Original ResearchNo Association Between DRD2 Locus and Alcoholism After Controlling the ADH and ALDH Genotypes in Chinese Han Population
Lee J, Lu R, Ko H, Chang F, Yin S, Pakstis A, Kidd K. No Association Between DRD2 Locus and Alcoholism After Controlling the ADH and ALDH Genotypes in Chinese Han Population. Alcohol Clinical And Experimental Research 1999, 23: 592-599. PMID: 10235293, DOI: 10.1111/j.1530-0277.1999.tb04159.x.Peer-Reviewed Original ResearchY‐chromosome specific YCAII, DYS19 and YAP polymorphisms in human populations: a comparative study
QUINTANA‐MURCI L, SEMINO O, POLONI E, LIU A, VAN GIJN M, PASSARINO G, BREGA A, NASIDZE I, MACCIONI L, COSSU G, AL‐ZAHERY N, KIDD J, KIDD K, SANTACHIARA‐BENERECETTI A. Y‐chromosome specific YCAII, DYS19 and YAP polymorphisms in human populations: a comparative study. Annals Of Human Genetics 1999, 63: 153-166. PMID: 10738527, DOI: 10.1046/j.1469-1809.1999.6320153.x.Peer-Reviewed Original ResearchConceptsY Alu PolymorphismGenetic structureGenetic affinityStrong genetic structurePopulation genetic structureAlu polymorphismsY markersHuman populationYCAIIDifferent populationsRelated groupsPolymorphismSpecific markersPopulationMarkersDYS19Geographic locationDifferent statistical analysesFrequency distributionSTRAffinityGenealogy reconstruction from short tandem repeat genotypes in an Amazonian population
Calafell F, Shuster A, Speed W, Kidd J, Black F, Kidd K. Genealogy reconstruction from short tandem repeat genotypes in an Amazonian population. American Journal Of Biological Anthropology 1999, 108: 137-146. PMID: 9988377, DOI: 10.1002/(sici)1096-8644(199902)108:2<137::aid-ajpa1>3.0.co;2-k.Peer-Reviewed Original Research
1998
Network Analyses of Y-Chromosomal Types in Europe, Northern Africa, and Western Asia Reveal Specific Patterns of Geographic Distribution
Malaspina P, Cruciani F, Ciminelli B, Terrenato L, Santolamazza P, Alonso A, Banyko J, Brdicka R, García O, Gaudiano C, Guanti G, Kidd K, Lavinha J, Avila M, Mandich P, Moral P, Qamar R, Mehdi S, Ragusa A, Stefanescu G, Caraghin M, Tyler-Smith C, Scozzari R, Novelletto A. Network Analyses of Y-Chromosomal Types in Europe, Northern Africa, and Western Asia Reveal Specific Patterns of Geographic Distribution. American Journal Of Human Genetics 1998, 63: 847-860. PMID: 9718330, PMCID: PMC1377388, DOI: 10.1086/301999.Peer-Reviewed Original ResearchConceptsExtant human populationsTotal diversityChromosomal lineagesLength variantsDinucleotide microsatellitesY chromosomeCommon descentPhenetic relationshipsGeographic distributionNorthern AfricaHaplotypesHuman populationLineagesDinucleotide unitsRapid generationDiversityWestern AsiaNetwork analysisChromosomesMicrosatellitesSpecific patternsOptimal markerReliable frequency estimatesMutationsExtinctionOA1 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 mutationsIntronsAllelesDifferential Structuring of Human Populations for Homologous X and Y Microsatellite Loci
Scozzari R, Cruciani F, Malaspina P, Santolamazza P, Ciminelli B, Torroni A, Modiano D, Wallace D, Kidd K, Olckers A, Moral P, Terrenato L, Akar N, Qamar R, Mansoor A, Mehdi S, Meloni G, Vona G, Cole D, Cai W, Novelletto A. Differential Structuring of Human Populations for Homologous X and Y Microsatellite Loci. American Journal Of Human Genetics 1997, 61: 719-733. PMID: 9326337, PMCID: PMC1715969, DOI: 10.1086/515500.Peer-Reviewed Original Research