Search results for "SLC45A2"

showing 3 items of 3 documents

The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild

2013

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License.-- et al.

0106 biological sciencesConservation geneticsMalegenotype phenotype correlationGorillaComputingMilieux_LEGALASPECTSOFCOMPUTINGarginineGenoma humà01 natural sciencesOculocutaneous albinism type 4single nucleotide polymorphismAlbinismegenetic variabilityGorillaInbreedinggenetic conservationGenetics0303 health sciencesGenomebiologyarticlecopy number variationHigh-Throughput Nucleotide SequencingSLC45A2 geneGenomicszygosityOculocutaneous albinismFloquet de neu (Goril·la)AlbinismFemaleBiotechnologyamino acid substitutionResearch ArticleSLC45A2Gorilla gorilla gorillaHeterozygoteAlbinismMolecular Sequence Datacomparative genomic hybridizationgene sequenceConservation010603 evolutionary biology03 medical and health sciencesWestern lowland gorillabiology.animalmedicineGeneticsheterozygosityAnimalsAmino Acid Sequencegene030304 developmental biologygene identificationWhole genome sequencingnonhumanGorilla gorillaMembrane Transport ProteinsSequence Analysis DNA15. Life on landbiology.organism_classificationmedicine.diseaseGenòmicaData_GENERALMutationbiology.proteinGenèticaoculocutaneous albinismglycineMicrosatellite RepeatsBMC Genomics
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Direct evidence for positive selection of skin, hair, and eye pigmentation in Europeans during the last 5,000 y

2014

Significance Eye, hair, and skin pigmentation are highly variable in humans, particularly in western Eurasian populations. This diversity may be explained by population history, the relaxation of selection pressures, or positive selection. To investigate whether positive natural selection is responsible for depigmentation within Europe, we estimated the strength of selection acting on three genes known to have significant effects on human pigmentation. In a direct approach, these estimates were made using ancient DNA from prehistoric Europeans and computer simulations. This allowed us to determine selection coefficients for a precisely bounded period in the deep past. Our results indicate t…

GeneticsSLC45A2Time FactorsMultidisciplinaryNatural selectionEye ColorbiologyMembrane Transport ProteinsSkin PigmentationBiological SciencesPolymorphism Single NucleotideEye pigmentationWhite PeopleEastern europeanGene FrequencyAntigens NeoplasmEye colorbiology.proteinHumansSelection GeneticAlleleHair ColorAllele frequencyAllelesSelection (genetic algorithm)Proceedings of the National Academy of Sciences of the U.S.A.
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Updated Field Synopsis and Systematic Meta-Analyses of Genetic Association Studies in Cutaneous Melanoma: The MelGene Database

2015

We updated a field synopsis of genetic associations of cutaneous melanoma (CM) by systematically retrieving and combining data from all studies in the field published as of August 31, 2013. Data were available from 197 studies, which included 83,343 CM cases and 187,809 controls and reported on 1,126 polymorphisms in 289 different genes. Random-effects meta-analyses of 81 eligible polymorphisms evaluated in4 data sets confirmed 20 single-nucleotide polymorphisms across 10 loci (TYR, AFG3L1P, CDK10, MYH7B, SLC45A2, MTAP, ATM, CLPTM1L, FTO, and CASP8) that have previously been published with genome-wide significant evidence for association (P5 × 10(-8)) with CM risk, with certain variants pos…

SLC45A2Skin NeoplasmsLocus (genetics)DermatologyPolymorphism Single NucleotideBiochemistryLinkage DisequilibriumGermlineStatistical significanceDatabases GeneticOdds RatioHumansGenetic Predisposition to DiseaseMelanomaGeneMolecular BiologyGerm-Line MutationGenetic associationGeneticsbiologyChromosome MappingGenetic VariationCell BiologyGene Expression Regulation NeoplasticCutaneous melanomabiology.proteinGenome-Wide Association StudyJournal of Investigative Dermatology
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