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SPLICING ERROR IN GATA1 AFFECTS ERYTHROPOIESIS IN THE XPNA MOUSE (X-LINKED PRE- AND NEONATAL ANEMIA) WITH SUGGESTION OF A NOVEL COMPENSATORY ERYTHROID TRANSCRIPTION FACTOR
dc.contributor.advisor | Shireman, Theresa I | |
dc.contributor.author | Miller, Kyle Lamar | |
dc.date.accessioned | 2013-09-29T17:09:20Z | |
dc.date.available | 2013-09-29T17:09:20Z | |
dc.date.issued | 2013-08-31 | |
dc.date.submitted | 2013 | |
dc.identifier.other | http://dissertations.umi.com/ku:12948 | |
dc.identifier.uri | http://hdl.handle.net/1808/12271 | |
dc.description.abstract | A novel mutant mouse called X-linked pre- and neonatal anemia (gene symbol, Xpna) results in a transient, neonatal anemia which is resolved by 3 weeks of age in Xpna females. Adult Xpna females exhibit hypoplastic bone marrow with red cell aplasia and splenomegaly showing extramedullary erythropoiesis and megakaryocytosis. We identified a splicing defect derived from a single nucleotide change 5 base pairs downstream of Exon 1 in Gata1. The Xpna Gata1 gene produces a transcript, which includes alternative Exon 1Eb/c, known not to induce erythropoiesis. X-chromosome inactivation leads to two populations of hematopoietic cells in Xpna females, one of which expresses Xpna Gata1 mRNA. An X-chromosome-associated erythroid genetic marker (Pgk1, phosphoglycerate kinase-1) indicates reticulocytes are derived from erythropoietic cells expressing the Xpna Gata1 transcript. These data strongly suggest compensatory gene expression allowing for the generation of erythrocytes despite the lack of GATA-1 production. The Xpna mouse could, therefore, lead to the identification of novel erythropoietic factors. | |
dc.format.extent | 34 pages | |
dc.language.iso | en | |
dc.publisher | University of Kansas | |
dc.rights | This item is protected by copyright and unless otherwise specified the copyright of this thesis/dissertation is held by the author. | |
dc.subject | Genetics | |
dc.subject | Erythropoiesis | |
dc.subject | Gata-1 | |
dc.subject | Hematopoiesis | |
dc.subject | Transcription factors | |
dc.title | SPLICING ERROR IN GATA1 AFFECTS ERYTHROPOIESIS IN THE XPNA MOUSE (X-LINKED PRE- AND NEONATAL ANEMIA) WITH SUGGESTION OF A NOVEL COMPENSATORY ERYTHROID TRANSCRIPTION FACTOR | |
dc.type | Thesis | |
dc.contributor.cmtemember | White, Robert A | |
dc.contributor.cmtemember | Bittel, Douglas C | |
dc.thesis.degreeDiscipline | Preventive Medicine and Public Health | |
dc.thesis.degreeLevel | M.S. | |
kusw.oastatus | na | |
kusw.oapolicy | This item does not meet KU Open Access policy criteria. | |
kusw.bibid | 8086356 | |
dc.rights.accessrights | openAccess |
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KU Med Center Dissertations and Theses [464]
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Theses [4088]