Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation.
Mutations in the human methyl-CpG-binding protein gene MECP2 cause the neurological disorder Rett syndrome and some cases of X-linked mental retardation (XLMR). We report that MeCP2 interacts with ATRX, a SWI2/SNF2 DNA helicase/ATPase that is mutated in ATRX syndrome (alpha-thalassemia/mental retard...
| প্রধান লেখক: | , , , , , , , |
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| বিন্যাস: | Journal article |
| ভাষা: | English |
| প্রকাশিত: |
2007
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| _version_ | 1826268008891285504 |
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| author | Nan, X Hou, J Maclean, A Nasir, J Lafuente, M Shu, X Kriaucionis, S Bird, A |
| author_facet | Nan, X Hou, J Maclean, A Nasir, J Lafuente, M Shu, X Kriaucionis, S Bird, A |
| author_sort | Nan, X |
| collection | OXFORD |
| description | Mutations in the human methyl-CpG-binding protein gene MECP2 cause the neurological disorder Rett syndrome and some cases of X-linked mental retardation (XLMR). We report that MeCP2 interacts with ATRX, a SWI2/SNF2 DNA helicase/ATPase that is mutated in ATRX syndrome (alpha-thalassemia/mental retardation, X-linked). MeCP2 can recruit the helicase domain of ATRX to heterochromatic foci in living mouse cells in a DNA methylation-dependent manner. Also, ATRX localization is disrupted in neurons of Mecp2-null mice. Point mutations within the methylated DNA-binding domain of MeCP2 that cause Rett syndrome or X-linked mental retardation inhibit its interaction with ATRX in vitro and its localization in vivo without affecting methyl-CpG binding. We propose that disruption of the MeCP2-ATRX interaction leads to pathological changes that contribute to mental retardation. |
| first_indexed | 2024-03-06T21:03:01Z |
| format | Journal article |
| id | oxford-uuid:3b7f5601-c52c-4441-a84f-d4d24c61515d |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T21:03:01Z |
| publishDate | 2007 |
| record_format | dspace |
| spelling | oxford-uuid:3b7f5601-c52c-4441-a84f-d4d24c61515d2022-03-26T14:08:02ZInteraction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:3b7f5601-c52c-4441-a84f-d4d24c61515dEnglishSymplectic Elements at Oxford2007Nan, XHou, JMaclean, ANasir, JLafuente, MShu, XKriaucionis, SBird, AMutations in the human methyl-CpG-binding protein gene MECP2 cause the neurological disorder Rett syndrome and some cases of X-linked mental retardation (XLMR). We report that MeCP2 interacts with ATRX, a SWI2/SNF2 DNA helicase/ATPase that is mutated in ATRX syndrome (alpha-thalassemia/mental retardation, X-linked). MeCP2 can recruit the helicase domain of ATRX to heterochromatic foci in living mouse cells in a DNA methylation-dependent manner. Also, ATRX localization is disrupted in neurons of Mecp2-null mice. Point mutations within the methylated DNA-binding domain of MeCP2 that cause Rett syndrome or X-linked mental retardation inhibit its interaction with ATRX in vitro and its localization in vivo without affecting methyl-CpG binding. We propose that disruption of the MeCP2-ATRX interaction leads to pathological changes that contribute to mental retardation. |
| spellingShingle | Nan, X Hou, J Maclean, A Nasir, J Lafuente, M Shu, X Kriaucionis, S Bird, A Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation. |
| title | Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation. |
| title_full | Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation. |
| title_fullStr | Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation. |
| title_full_unstemmed | Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation. |
| title_short | Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation. |
| title_sort | interaction between chromatin proteins mecp2 and atrx is disrupted by mutations that cause inherited mental retardation |
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