2019
Aberrant splicing contributes to severe α-spectrin-linked congenital hemolytic anemia
Gallagher PG, Maksimova Y, Lezon-Geyda K, Newburger PE, Medeiros D, Hanson RD, Rothman J, Israels S, Wall DA, Sidonio RF, Sieff C, Gowans LK, Mittal N, Rivera-Santiago R, Speicher DW, Baserga SJ, Schulz VP. Aberrant splicing contributes to severe α-spectrin-linked congenital hemolytic anemia. Journal Of Clinical Investigation 2019, 129: 2878-2887. PMID: 31038472, PMCID: PMC6597203, DOI: 10.1172/jci127195.Peer-Reviewed Original ResearchConceptsRecessive hereditary spherocytosisSplice acceptor siteHuman genetic diseasesMRNA stability studiesAberrant splicing contributesSplicing contributesWhole-genome sequencingSplicing analysisHereditary pyropoikilocytosisTermination codonNull allelesGenome sequencingWhole-exome sequencingBranch pointsNumerous mutationsGenetic diseasesLinkage disequilibriumMRNA transcriptsΑ-spectrinMinigene studiesAcceptor sitesMutationsExome sequencingNew targets
2007
A complex splicing defect associated with homozygous ankyrin-deficient hereditary spherocytosis
Edelman EJ, Maksimova Y, Duru F, Altay C, Gallagher PG. A complex splicing defect associated with homozygous ankyrin-deficient hereditary spherocytosis. Blood 2007, 109: 5491-5493. PMID: 17327413, PMCID: PMC1890827, DOI: 10.1182/blood-2006-09-046573.Peer-Reviewed Original Research
2005
A novel splicing mutation of the α-spectrin gene in the original hereditary pyropoikilocytosis kindred
Costa DB, Lozovatsky L, Gallagher PG, Forget BG. A novel splicing mutation of the α-spectrin gene in the original hereditary pyropoikilocytosis kindred. Blood 2005, 106: 4367-4369. PMID: 16150946, PMCID: PMC1895230, DOI: 10.1182/blood-2005-05-1813.Peer-Reviewed Original ResearchConceptsFrame premature termination codonsRed blood cell membrane skeletonCell membrane skeletonΑ-spectrin geneHereditary pyropoikilocytosisPremature termination codonConsensus splice sitesTissue culture cellsNovel splicing mutationMembrane skeletonIntronic fragmentTermination codonGene transcriptsAlpha-spectrinAbnormal splicingSplice siteStructural variantsGene transferMolecular defectsSplicing mutationCulture cellsAllelesExon 22TranscriptsMutationsMultiple isoforms of the KC1 cotransporter are expressed in sickle and normal erythroid cells
Crable SC, Hammond SM, Papes R, Rettig RK, Zhou GP, Gallagher PG, Joiner CH, Anderson KP. Multiple isoforms of the KC1 cotransporter are expressed in sickle and normal erythroid cells. Experimental Hematology 2005, 33: 624-631. PMID: 15911086, DOI: 10.1016/j.exphem.2005.02.006.Peer-Reviewed Original ResearchConceptsErythroid cellsKCC isoformsMultiple isoformsSplicing variantsStructure/function studiesKCl cotransporterWild-type cellsHuman erythroid cellsDifferentiated erythroid precursorsCl-dependent K fluxTransient transfection experimentsNormal erythroid cellsIsoform expression patternCotransporter activityRed cellsKCC genesExpression patternsReticulocyte maturationHuman red cellsKCC1 geneTransfection experimentsReverse transcriptase-PCRSplice variantsRelative abundanceGenes
1997
Spectrin St Claude, a Splicing Mutation of the Human α-Spectrin Gene Associated With Severe Poikilocytic Anemia
Fournier C, Nicolas G, Gallagher P, Dhermy D, Grandchamp B, Lecomte M. Spectrin St Claude, a Splicing Mutation of the Human α-Spectrin Gene Associated With Severe Poikilocytic Anemia. Blood 1997, 89: 4584-4590. PMID: 9192783, DOI: 10.1182/blood.v89.12.4584.Peer-Reviewed Original ResearchConceptsAlpha-spectrin chainAcceptor splice siteSplice siteSplicing mutationAlpha-spectrin geneΑ-spectrin geneExon 20New acceptor splice siteMolecular basisTermination codonNovel mRNAInsertion upstreamTract mutationsTryptic digestionMutationsG mutationGenesMRNAHeterozygous parentsErythrocyte membranesMembraneFrame skippingCodonSitesVariants
1991
A splice site mutation of the beta-spectrin gene causing exon skipping in hereditary elliptocytosis associated with a truncated beta-spectrin chain
Gallagher PG, Tse WT, Costa F, Scarpa A, Boivin P, Delaunay J, Forget BG. A splice site mutation of the beta-spectrin gene causing exon skipping in hereditary elliptocytosis associated with a truncated beta-spectrin chain. Journal Of Biological Chemistry 1991, 266: 15154-15159. PMID: 1840591, DOI: 10.1016/s0021-9258(18)98598-4.Peer-Reviewed Original Research