2000
Short 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
Allele 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
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 estimatesMutationsExtinctionShort 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 AsiansDifferentiationHumansPolymorphismPopulationTrees