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dc.contributor.authorShafizadeh, Ebrahim
dc.date.accessioned2021-03-31T22:35:10Z
dc.date.available2021-03-31T22:35:10Z
dc.date.issued2002-08
dc.identifier.urien
dc.identifier.urihttp://hdl.handle.net/10675.2/623959
dc.description.abstractThe zebrafish mutant merlot (mot) is characterized by onset of a severe anemia at 96 hours post fertilization. We performed whole mount RNA in situ hybridization and showed that ihe process of primitive erythropoiesis is not interrupted in the mot embryos. Blood analysis demonstrated that mot suffers from a severe congenital hemolytic anemia. Using the TUNEL assay, we detected apoptotic erythroid progenitors in the kidneys. We performed electron microscopic analysis and detected membrane abnormalities and a loss of the cortical membrane organization in the mot cells. We used positional cloning techniques with a candidate gene approach to demonstrate that mot encodes the erythroid specific isoform of protein 4.1R, a critical component of the red blood cell membrane skeleton. Sequence analysis of 4.1R eDNA detected nonsense point mutations in both alleles of mot resulting in premature stop codons. We performed linkage analysis and transgenic rescue experiments to provide further confirmation that the molecular defect in the protein 4.1R is the underlying cause of anemic phenotype in mot fish. This study presents the zebrafish mutant merlot as the first characterized non-mammalian vertebrate model of congenital anemia due to a defect in protein 4.1R integrity.en_US
dc.language.isoen_USen_US
dc.publisherAugusta Universityen_US
dc.rightsCopyright protected. Unauthorized reproduction or use beyond the exceptions granted by the Fair Use clause of U.S. Copyright law may violate federal law.en_US
dc.subjectzebrafishen_US
dc.subjecthematopoesisen_US
dc.titleCharacterization of zebrafish mutant merlot as a non-mammalian vertebrate model for congenital anemia due to protein 4.1 deficiencyen_US
dc.typeDissertationen_US
dc.contributor.departmentMedical College of Georigaen_US
dc.description.advisorLin, Shuo
dc.description.committeeMunn, David
dc.description.committeeCondie, Brian
dc.description.committeeIwashima, Makio
dc.description.committeeAnderson, Mark
dc.description.degreeDoctor of Philosophyen_US
dc.embargoen
refterms.dateFOA2021-03-31T22:35:11Z


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