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
2006
Sub‐Saharan African coding sequence variation and haplotype diversity at the NAT2 gene
Patin E, Harmant C, Kidd K, Kidd J, Froment A, Mehdi S, Sica L, Heyer E, Quintana‐Murci L. Sub‐Saharan African coding sequence variation and haplotype diversity at the NAT2 gene. Human Mutation 2006, 27: 720-720. PMID: 16786516, DOI: 10.1002/humu.9438.Peer-Reviewed Original ResearchConceptsNon-synonymous mutationsNovel non-synonymous mutationsEvolutionary conservationDetailed genetic characterizationIndividuals/populationsHaplotype diversityAgriculturalist populationsSequence variationProtein activityAfrican populationsWestern PygmiesAfrican haplotypesGenetic characterizationUnknown functional effectsGenesFunctional effectsNAT2 geneHaplotype frequenciesSub-Saharan African populationsMutationsChromosomesDamaging effectsLociPopulationProtein
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
1993
Assignment of the norepinephrine transporter protein (NET1) locusto chromosome 16
Gelernter J, Kruger S, Pakstis A, Pacholczyk T, Sparkes R, Kidd K, Amara S. Assignment of the norepinephrine transporter protein (NET1) locusto chromosome 16. Genomics 1993, 18: 690-692. PMID: 7905857, DOI: 10.1016/s0888-7543(05)80375-1.Peer-Reviewed Original ResearchMeSH KeywordsCarrier ProteinsChromosome MappingChromosomes, Human, Pair 16Deoxyribonucleases, Type II Site-SpecificDNA, ComplementaryGenetic LinkageGenetic MarkersHumansNorepinephrineNorepinephrine Plasma Membrane Transport ProteinsPolymorphism, Restriction Fragment LengthRestriction MappingSymportersConceptsNorepinephrine transporter proteinSomatic cell hybrid panelCell hybrid panelHybrid panelHP locusCEPH familiesLarge multigenerational familyTransporter proteinsLinkage analysisChromosome 16Provisional assignmentLinkage dataLociMultigenerational familiesGenetic polymorphismsSite of actionPreliminary assignmentNet1FamilyProteinRFLPSitesPolymorphismPCRLocalizationA hypervariable segment in the human dopamine receptor D4 (DRD4) gene
Lichter J, Barr C, Kennedy J, Van Tol H, Kidd K, Livak K. A hypervariable segment in the human dopamine receptor D4 (DRD4) gene. Human Molecular Genetics 1993, 2: 767-773. PMID: 8353495, DOI: 10.1093/hmg/2.6.767.Peer-Reviewed Original ResearchConceptsHuman dopamine receptor D4 geneAmino acid sequenceThird cytoplasmic loopNumber of repeatsPutative third cytoplasmic loopFunctional proteinsCytoplasmic loopAcid sequenceRepeat regionDifferent repeatsHypervariable segmentDifferent haplotypesRepeatsDopamine receptor D4 geneUnrelated chromosomesNovel polymorphismsD4 geneGenesProteinHuman dopamine D4 receptorPolymorphic variantsSequencePolymorphismChromosomesReceptors
1989
The mapping of the locus for multiple endocrine neoplasia type 2A by linkage with chromosome 10 markers.
Simpson N, Kidd K. The mapping of the locus for multiple endocrine neoplasia type 2A by linkage with chromosome 10 markers. Hormone And Metabolic Research. Supplement Series 1989, 21: 5-9. PMID: 2572529.Peer-Reviewed Original ResearchConceptsDisease locusInterstitial retinol-binding proteinChromosome 10 markersTest of linkageChromosome 10Disease genesDeletion siteChromosome 20Additional family dataBinding proteinLociGenesExclusion of linkageSitu hybridizationD10S5Ultimate identificationRetinol-binding proteinType 2AMultiple endocrine neoplasia type 2AGenomeMarkersFamily dataLinkageProteinHybridization