2024
Weakened tanning ability is an important mechanism for evolutionary skin lightening in East Asians
Pu Y, Pu S, Chen Y, Kong Q, Liu X, Zhao Q, Xu K, Liu J, Li M, Xu X, Qiao X, Su B, Chen J, Yang Z. Weakened tanning ability is an important mechanism for evolutionary skin lightening in East Asians. Journal Of Genetics And Genomics 2024, 51: 703-713. PMID: 38461943, DOI: 10.1016/j.jgg.2024.03.001.Peer-Reviewed Original ResearchBinding activity of transcription factorsActivation of transcription factorsEast AsiansTranscription factor binding assaysBinding to Smad2Zebrafish embryosHan Chinese individualsEnhanced activityAdaptive allelesAssociated with skin colorAncestral alleleHigh-latitude environmentsHan Chinese malesPigment genesIntronic mutationTanning abilityTranscription factorsGenetic mechanismsSelection signalsT alleleUltraviolet radiation responsesNatural selectionLight skin pigmentationMelanin productionBinding activity
2017
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O’Grady G, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, O’Donnell-Luria A, Birnbaum D, Sarkozy A, Hu Y, Gonorazky H, Claeys K, Joshi H, Bournazos A, Oates EC, Ghaoui R, Davis MR, Laing NG, Topf A, Consortium G, Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bönnemann CG, MacArthur DG. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Science Translational Medicine 2017, 9 PMID: 28424332, PMCID: PMC5548421, DOI: 10.1126/scitranslmed.aal5209.Peer-Reviewed Original ResearchConceptsTranscriptome sequencingRNA-seqCurrent diagnostic ratePrior genetic analysisTranscript level changesTriple-helical domainDeep intronic regionsWhole-genome sequencingSplice-altering variantsInterpretation of variantsRepeat motifsGenomic analysisHelical domainMendelian disease diagnosisGenetic analysisMendelian diseasesIntronic regionsSkeletal muscle samplesSequencingRare disease diagnosisIntronic mutationOverall diagnosis rateStandard diagnostic approachRare muscle disorderComplementary diagnostic tool
2008
Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3
Santoro A, Cannella S, Trizzino A, Bruno G, De Fusco C, Notarangelo L, Pende D, Griffiths G, Aricò M. Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3. Haematologica 2008, 93: 1086-1090. PMID: 18492689, DOI: 10.3324/haematol.12622.Peer-Reviewed Original ResearchConceptsDeep intronic mutationsIntronic mutationSplicing errorsFamilial hemophagocytic lymphohistiocytosisFamilial hemophagocytic lymphohistiocytosis type 3Hemophagocytic lymphohistiocytosisMRNA splicingRegulatory sequencesAberrant splicingImpaired splicingSplicing mutationSplicingAcceptor sitesExon 11Secretory granulesMunc13-4 proteinMolecular defectsMutationsFunctional impactUNC13D mutationsCellular cytotoxicityUNC13DClinical pictureLymphohistiocytosisMunc13
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