2024
Hematopoietic Stem Cells Supporting Fetal Erythropoiesis Are Differentially Regulated By Small and Large Ribosomal Subunits
Tang Y, Ling T, Mehmood R, Khan M, Papoin J, Palis J, Steiner L, Durand S, Zon L, Bhoopalan S, Weiss M, Lipton J, Taylor N, Gallagher P, Narla M, Crispino J, Blanc L. Hematopoietic Stem Cells Supporting Fetal Erythropoiesis Are Differentially Regulated By Small and Large Ribosomal Subunits. Blood 2024, 144: 195. DOI: 10.1182/blood-2024-210699.Peer-Reviewed Original ResearchDiamond-Blackfan anemiaHaplo-insufficient miceFetal hematopoiesisHematopoietic stemBFU-EProgenitor cellsCongenital bone marrow failure syndromeMouse modelClinically relevant mouse modelBone marrow failure syndromesProtein haploinsufficiencyBasophilic erythroblastsMarrow failure syndromesBone marrow failureFetal liver cellsRelevant mouse modelConsistent with clinical findingsPost-natal dayConditional mouse modelErythroid lineage cellsRibosomal protein haploinsufficiencyAssociated with mutationsExpression of RUNX1BFU-E stageRUNX1 allele
1996
The lethal hemolytic mutation in beta I sigma 2 spectrin Providence yields a null phenotype in neonatal skeletal muscle.
Weed SA, Stabach PR, Oyer CE, Gallagher PG, Morrow JS. The lethal hemolytic mutation in beta I sigma 2 spectrin Providence yields a null phenotype in neonatal skeletal muscle. Laboratory Investigation 1996, 74: 1117-29. PMID: 8667615.Peer-Reviewed Original ResearchConceptsBeta ISpectrin skeletonSkeletal muscleMost such mutationsGene transferAdult mouse skeletal muscleDominant-negative fashionErythroid lineage cellsNeonatal skeletal muscleCultured muscle cellsAlpha beta heterodimersErythrocyte shape abnormalitiesMuscle cellsMouse skeletal muscleDefective proteinSpectrin geneAlternative transcriptsHemolytic phenotypeCDNA constructsNull phenotypeC2C12 myoblastsBeta heterodimerSpectrin mutationsSedimentation velocity analysisIntracellular distribution