2005
Genetic Evidence That an 11 Amino Acid β-Hairpin Loop in the Cytoplasmic Domain of Band 3 Is Responsible for at Least 50% of Ankyrin Binding in Mouse Erythrocytes.
Markham N, Parry E, Stefanovic M, Gallagher P, Low P, Bodine D. Genetic Evidence That an 11 Amino Acid β-Hairpin Loop in the Cytoplasmic Domain of Band 3 Is Responsible for at Least 50% of Ankyrin Binding in Mouse Erythrocytes. Blood 2005, 106: 1659. DOI: 10.1182/blood.v106.11.1659.1659.Peer-Reviewed Original ResearchΒ-hairpin loopCytoplasmic domainWild typeHuman band 3Neomycin resistance geneMembrane proteinsBand 3Mutant allelesBand 3 cytoplasmic domainResistance genesLevels of mRNARed cell membrane proteinsIntegral erythrocyte membrane proteinsSpectrin-actin cytoskeletonCre recombinase proteinDomain 3Embryonic stem cellsQuantitative RT-PCR analysisCell membrane proteinsNormal Mendelian ratioBand 3 mRNATransgenic miceAnion exchange proteinMutant erythrocytesBand 3 gene
1996
A nonsense mutation in the erythrocyte band 3 gene associated with decreased mRNA accumulation in a kindred with dominant hereditary spherocytosis.
Jenkins PB, Abou-Alfa GK, Dhermy D, Bursaux E, Féo C, Scarpa AL, Lux SE, Garbarz M, Forget BG, Gallagher PG. A nonsense mutation in the erythrocyte band 3 gene associated with decreased mRNA accumulation in a kindred with dominant hereditary spherocytosis. Journal Of Clinical Investigation 1996, 97: 373-380. PMID: 8567957, PMCID: PMC507027, DOI: 10.1172/jci118425.Peer-Reviewed Original ResearchConceptsBand 3 geneCytoplasmic domainNonsense mutationGenomic DNABand 3 cytoplasmic domainErythrocyte band 3 geneErythrocyte membrane mechanical stabilityEntire transmembrane domainBand 3Membrane mechanical stabilityBand 3 proteinTransmembrane domainNucleotide sequenceRT-PCRFamily membersStudy of erythrocytesMRNA accumulationSequence analysisAnion transport studiesBand 3 defectsTypical hereditary spherocytosisHS mutationsReticulocyte RNAUnaffected family membersRNA