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
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 measures