Trapping MBD5 to understand 2q23.1 microdeletion syndrome
Despite genetic evidence implicating MBD5 as the only overlapping gene between various 2q23.1 microdeletions, the function of MBD5 and its causality to 2q23.1 microdeletion syndrome, a disorder characterized by developmental delay and autistic features, has yet to be determined. In this issue of EMB...
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| Format: | Online |
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BlackWell Publishing Ltd
2014
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4154127/ |
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pubmed-4154127 |
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pubmed-41541272014-09-04 Trapping MBD5 to understand 2q23.1 microdeletion syndrome Kwon, Deborah Y Zhou, Zhaolan Closeup Despite genetic evidence implicating MBD5 as the only overlapping gene between various 2q23.1 microdeletions, the function of MBD5 and its causality to 2q23.1 microdeletion syndrome, a disorder characterized by developmental delay and autistic features, has yet to be determined. In this issue of EMBO Molecular Medicine, Camarena et al generate an Mbd5 gene-trap mouse model and show for the first time that mice with reduced MBD5 expression develop behavioral abnormalities with neuronal function deficits, mimicking symptoms in 2q23.1 microdeletion syndrome, thus supporting a causal role for MBD5 haploinsufficiency in the disorder. BlackWell Publishing Ltd 2014-08 2014-07-07 /pmc/articles/PMC4154127/ /pubmed/25001217 http://dx.doi.org/10.15252/emmm.201404324 Text en © 2014 The Authors. Published under the terms of the CC BY 4.0 license http://creativecommons.org/licenses/by/4.0/ This is an open access article under the terms of the Creative Commons Attribution 4.0 License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
| repository_type |
Open Access Journal |
| institution_category |
Foreign Institution |
| institution |
US National Center for Biotechnology Information |
| building |
NCBI PubMed |
| collection |
Online Access |
| language |
English |
| format |
Online |
| author |
Kwon, Deborah Y Zhou, Zhaolan |
| spellingShingle |
Kwon, Deborah Y Zhou, Zhaolan Trapping MBD5 to understand 2q23.1 microdeletion syndrome |
| author_facet |
Kwon, Deborah Y Zhou, Zhaolan |
| author_sort |
Kwon, Deborah Y |
| title |
Trapping MBD5 to understand 2q23.1 microdeletion syndrome |
| title_short |
Trapping MBD5 to understand 2q23.1 microdeletion syndrome |
| title_full |
Trapping MBD5 to understand 2q23.1 microdeletion syndrome |
| title_fullStr |
Trapping MBD5 to understand 2q23.1 microdeletion syndrome |
| title_full_unstemmed |
Trapping MBD5 to understand 2q23.1 microdeletion syndrome |
| title_sort |
trapping mbd5 to understand 2q23.1 microdeletion syndrome |
| description |
Despite genetic evidence implicating MBD5 as the only overlapping gene between various 2q23.1 microdeletions, the function of MBD5 and its causality to 2q23.1 microdeletion syndrome, a disorder characterized by developmental delay and autistic features, has yet to be determined. In this issue of EMBO Molecular Medicine, Camarena et al generate an Mbd5 gene-trap mouse model and show for the first time that mice with reduced MBD5 expression develop behavioral abnormalities with neuronal function deficits, mimicking symptoms in 2q23.1 microdeletion syndrome, thus supporting a causal role for MBD5 haploinsufficiency in the disorder. |
| publisher |
BlackWell Publishing Ltd |
| publishDate |
2014 |
| url |
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4154127/ |
| _version_ |
1613130802118262784 |