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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Seah, Claudia Bérubé, Nathalie G. Dick, Frederick Ritchie, Kieran Isaac, Christian Moulin, Jana |
| Description | Author Affiliation: Ritchie K ( Department of Paediatrics, University of Western Ontario, London, Canada.) |
| Abstract | αThalassemia/mental retardation X linked (ATRX) is a switch/sucrose nonfermenting-type ATPase localized at pericentromeric heterochromatin in mouse and human cells. Human ATRX mutations give rise to mental retardation syndromes characterized by developmental delay, facial dysmorphisms, cognitive deficits, and microcephaly and the loss of ATRX in the mouse brain leads to reduced cortical size. We find that ATRX is required for normal mitotic progression in human cultured cells and in neuroprogenitors. Using live cell imaging, we show that the transition from prometaphase to metaphase is prolonged in ATRX-depleted cells and is accompanied by defective sister chromatid cohesion and congression at the metaphase plate. We also demonstrate that loss of ATRX in the embryonic mouse brain induces mitotic defects in neuroprogenitors in vivo with evidence of abnormal chromosome congression and segregation. These findings reveal that ATRX contributes to chromosome dynamics during mitosis and provide a possible cellular explanation for reduced cortical size and abnormal brain development associated with ATRX deficiency. |
| ISSN | 00219525 |
| e-ISSN | 15408140 |
| Journal | The Journal of Cell Biology |
| Issue Number | 2 |
| Volume Number | 180 |
| Language | English |
| Publisher | Rockefeller University Press (United States) |
| Publisher Date | 2008-01-28 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Chromosomes Metabolism DNA Helicases Nuclear Proteins Animals Brain Cytology Embryology Cell Nucleus HeLa Cells Metaphase Mice Stem Cells Research Support, Non-U.S. Gov't Cell Biology |
| Content Type | Text |
| Resource Type | Article |
| Subject | Cell Biology Medicine |
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