Featured Publications
Isolated polycystic liver disease genes define effectors of polycystin-1 function
Besse W, Dong K, Choi J, Punia S, Fedeles SV, Choi M, Gallagher AR, Huang EB, Gulati A, Knight J, Mane S, Tahvanainen E, Tahvanainen P, Sanna-Cherchi S, Lifton RP, Watnick T, Pei YP, Torres VE, Somlo S. Isolated polycystic liver disease genes define effectors of polycystin-1 function. Journal Of Clinical Investigation 2017, 127: 1772-1785. PMID: 28375157, PMCID: PMC5409105, DOI: 10.1172/jci90129.Peer-Reviewed Original ResearchMeSH KeywordsAdultAnimalsCalcium-Binding ProteinsCell Line, TransformedCystsEndoplasmic ReticulumFemaleGenome-Wide Association StudyGlucosidasesGlucosyltransferasesHeterozygoteHumansIntracellular Signaling Peptides and ProteinsLiver DiseasesMaleMembrane ProteinsMiceMolecular ChaperonesMutationRNA-Binding ProteinsSEC Translocation ChannelsTRPP Cation ChannelsConceptsPolycystin-1 functionPolycystin-1Protein biogenesis pathwaysGenome-wide basisPolycystic liver diseaseLoss-of-function mutationsWhole-exome sequencingHeterozygous loss-of-function mutationsBiogenesis pathwayLoss of functionAdditional genesDisease genesGene productsCell line modelsCandidate genesExome sequencingEndoplasmic reticulumCausative genesFunction mutationsGenesAutosomal dominant polycystic kidney diseaseDominant polycystic kidney diseaseSec63Defective maturationKidney cystsGenetic Analysis of Severe Polycystic Liver Disease in Japan
Mizuno H, Besse W, Sekine A, Long K, Kurihara S, Oba Y, Yamanouchi M, Hasegawa E, Suwabe T, Sawa N, Ubara Y, Somlo S, Hoshino J. Genetic Analysis of Severe Polycystic Liver Disease in Japan. Kidney360 2024, 5: 1106-1115. PMID: 38689396, PMCID: PMC11371350, DOI: 10.34067/kid.0000000000000461.Peer-Reviewed Original ResearchSevere polycystic liver diseaseAutosomal dominant polycystic kidney diseaseDisease genesPolycystic liver diseasePKD2 patientsGenetic analysisWhole-exome sequencingSuspected pathogenic variantsLiver diseaseSpectrum of phenotypesPKD2 variantsExome sequencingAutosomal dominant polycystic kidney disease cohortPathogenic variantsPKD2PKD1Genetic etiologyDominant polycystic kidney diseaseGenesPolycystic kidney diseaseKidney cystsNo significant differenceKidney volumePLD patientsKidney disease
2008
Ectopic expression of peripheral-tissue antigens in the thymic epithelium: Probabilistic, monoallelic, misinitiated
Villaseñor J, Besse W, Benoist C, Mathis D. Ectopic expression of peripheral-tissue antigens in the thymic epithelium: Probabilistic, monoallelic, misinitiated. Proceedings Of The National Academy Of Sciences Of The United States Of America 2008, 105: 15854-15859. PMID: 18836079, PMCID: PMC2572966, DOI: 10.1073/pnas.0808069105.Peer-Reviewed Original ResearchConceptsPeripheral-tissue antigensMedullary epithelial cellsPeripheral tissue antigensPta geneSelf-tolerant T cell repertoireTranscription start sitePeripheral cellsThymic medullary epithelial cellsCoexpression of genesT cell repertoireRepertoire of antigensEpithelial cell lineagesStart siteTranscriptional regulationBiallelic transcriptionThymic epitheliumPresenting antigensEctopic expressionCell repertoireGenesAIRE functionEpithelial cellsAntigenSingle-cell PCRCell lineages
2007
Signatures of strong population differentiation shape extended haplotypes across the human CD28, CTLA4, and ICOS costimulatory genes
Butty V, Roy M, Sabeti P, Besse W, Benoist C, Mathis D. Signatures of strong population differentiation shape extended haplotypes across the human CD28, CTLA4, and ICOS costimulatory genes. Proceedings Of The National Academy Of Sciences Of The United States Of America 2007, 104: 570-575. PMID: 17197413, PMCID: PMC1766426, DOI: 10.1073/pnas.0610124104.Peer-Reviewed Original ResearchMeSH KeywordsAntigens, CDAntigens, DifferentiationAntigens, Differentiation, T-LymphocyteAutoimmunityCD28 AntigensChromosomes, Human, Pair 2CTLA-4 AntigenEthnicityGenetic VariationGenetics, PopulationHaplotypesHumansInducible T-Cell Co-Stimulator ProteinLinkage DisequilibriumLymphocyte ActivationPolymorphism, Single NucleotidePromoter Regions, GeneticT-LymphocytesConceptsLong-range linkage disequilibriumShort genomic intervalsGenomic intervalsCourse of human migrationsDemographic eventsDNA panelLinkage disequilibriumReceptor familyHuman CD28T cell activationMicrobial challengeAllelic variantsHuman populationHaplotypesDifferentiation shapeGenesLociCell activationHuman migrationUnusual differencesCostimulatory genesExtended haplotypesVariantsGeographic regionsCTLA-4
2005
Variation in IL-1β gene expression is a major determinant of genetic differences in arthritis aggressivity in mice
Ohmura K, Johnsen A, Ortiz-Lopez A, Desany P, Roy M, Besse W, Rogus J, Bogue M, Puech A, Lathrop M, Mathis D, Benoist C. Variation in IL-1β gene expression is a major determinant of genetic differences in arthritis aggressivity in mice. Proceedings Of The National Academy Of Sciences Of The United States Of America 2005, 102: 12489-12494. PMID: 16113081, PMCID: PMC1194932, DOI: 10.1073/pnas.0504325102.Peer-Reviewed Original ResearchConceptsInbred strainsWhole-genome scanQuantitation of transcriptsInterleukin-1 gene familyConventional inbred strainsWild-derived strainsComplex genetic controlSequence haplotypesGenomic regionsGenetic lociNoncoding polymorphismsCandidate genesGenetic analysisGenetic differencesBALB/c haplotypeGenetic controlGene expressionIL-1B gene expressionBreeding strategiesBreeding schemesIL1B geneGenesSerum-transfer arthritisStrainHigh-responder BALB/c