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@ARTICLE{Reddy:176932,
      author       = {N. C. Reddy and S. P. Majidi and L. Kong and M. Nemera and
                      C. J. Ferguson and M. Moore and T. M. Goncalves and H.-K.
                      Liu$^*$ and J. A. J. Fitzpatrick and G. Zhao and T. Yamada
                      and A. Bonni and H. W. Gabel},
      title        = {{CHARGE} syndrome protein {CHD}7 regulates epigenomic
                      activation of enhancers in granule cell precursors and
                      gyrification of the cerebellum.},
      journal      = {Nature Communications},
      volume       = {12},
      number       = {1},
      issn         = {2041-1723},
      address      = {[London]},
      publisher    = {Nature Publishing Group UK},
      reportid     = {DKFZ-2021-02172},
      pages        = {5702},
      year         = {2021},
      note         = {DKFZ-ZMBH Alliance},
      abstract     = {Regulation of chromatin plays fundamental roles in the
                      development of the brain. Haploinsufficiency of the
                      chromatin remodeling enzyme CHD7 causes CHARGE syndrome, a
                      genetic disorder that affects the development of the
                      cerebellum. However, how CHD7 controls chromatin states in
                      the cerebellum remains incompletely understood. Using
                      conditional knockout of CHD7 in granule cell precursors in
                      the mouse cerebellum, we find that CHD7 robustly promotes
                      chromatin accessibility, active histone modifications, and
                      RNA polymerase recruitment at enhancers. In vivo profiling
                      of genome architecture reveals that CHD7 concordantly
                      regulates epigenomic modifications associated with enhancer
                      activation and gene expression of topologically-interacting
                      genes. Genome and gene ontology studies show that
                      CHD7-regulated enhancers are associated with genes that
                      control brain tissue morphogenesis. Accordingly, conditional
                      knockout of CHD7 triggers a striking phenotype of cerebellar
                      polymicrogyria, which we have also found in a case of CHARGE
                      syndrome. Finally, we uncover a CHD7-dependent switch in the
                      preferred orientation of granule cell precursor division in
                      the developing cerebellum, providing a potential cellular
                      basis for the cerebellar polymicrogyria phenotype upon loss
                      of CHD7. Collectively, our findings define epigenomic
                      regulation by CHD7 in granule cell precursors and identify
                      abnormal cerebellar patterning upon CHD7 depletion, with
                      potential implications for our understanding of CHARGE
                      syndrome.},
      cin          = {A240},
      ddc          = {500},
      cid          = {I:(DE-He78)A240-20160331},
      pnm          = {311 - Zellbiologie und Tumorbiologie (POF4-311)},
      pid          = {G:(DE-HGF)POF4-311},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:34588434},
      doi          = {10.1038/s41467-021-25846-3},
      url          = {https://inrepo02.dkfz.de/record/176932},
}