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The purpose of this study was to generate new, sub-haploinsufficient\n                      <jats:italic>Chd8<\/jats:italic>\n                      mouse models to allow us to identify and study the functions of CHD8 during embryonic cortical development.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      To examine the possibility that certain phenotypes may only appear at sub-heterozygous\n                      <jats:italic>Chd8<\/jats:italic>\n                      levels in the mouse, we created an allelic series of\n                      <jats:italic>Chd8<\/jats:italic>\n                      -deficient mice to reduce CHD8 protein levels to approximately 35% (mild hypomorph), 10% (severe hypomorph) and 0% (neural-specific conditional knockout) of wildtype levels. We used RNA sequencing to compare transcriptional dysregulation, structural MRI and brain weight to investigate effects on brain size, and cell proliferation, differentiation and apoptosis markers in immunostaining assays to quantify changes in neural progenitor fate.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Mild\n                      <jats:italic>Chd8<\/jats:italic>\n                      hypomorphs displayed significant postnatal lethality, with surviving animals exhibiting more pronounced brain hyperplasia than heterozygotes. Over 2000 genes were dysregulated in mild hypomorphs, including autism-associated neurodevelopmental and cell cycle genes. We identify increased proliferation of non-ventricular zone TBR2+ intermediate progenitors as one potential cause of brain hyperplasia in these mutants. Severe\n                      <jats:italic>Chd8<\/jats:italic>\n                      hypomorphs displayed even greater transcriptional dysregulation, including evidence for p53 pathway\u00a0upregulation. In contrast to mild hypomorphs, these mice displayed reduced brain size and increased apoptosis in the embryonic neocortex. Homozygous, conditional deletion of\n                      <jats:italic>Chd8<\/jats:italic>\n                      in early neuronal progenitors resulted in pronounced brain hypoplasia, partly caused by p53 target gene derepression and apoptosis in the embryonic neocortex.\n                    <\/jats:p>\n                    <jats:p>Limitations<\/jats:p>\n                    <jats:p>Our findings identify an important role for the autism-associated factor CHD8 in controlling the proliferation of intermediate progenitors in the mouse neocortex. We propose that CHD8 has a similar function in human brain development, but studies on human cells are required to confirm this. Because many of our mouse mutants with reduced CHD8 function die shortly after birth, it is not possible to fully determine to what extent reduced CHD8 function results in autism-associated behaviours in mice.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Together, these findings identify important, dosage-sensitive functions for CHD8 in p53 pathway repression, neurodevelopmental gene expression and neural progenitor fate in the embryonic neocortex. We conclude that brain development is acutely sensitive to reduced CHD8 expression and that the varying sensitivities of different progenitor populations and cellular processes to CHD8 dosage result in non-linear effects on gene transcription and brain growth.<\/jats:p>\n                    <jats:p>Shaun Hurley, Conor Mohan and Philipp Suetterlin have contributed equally to this work.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13229-020-00409-3","type":"journal-article","created":{"date-parts":[[2021,2,24]],"date-time":"2021-02-24T08:03:59Z","timestamp":1614153839000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":41,"title":["Distinct, dosage-sensitive requirements for the autism-associated factor CHD8 during cortical development"],"prefix":"10.1186","volume":"12","author":[{"given":"Shaun","family":"Hurley","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Conor","family":"Mohan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philipp","family":"Suetterlin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Ellingford","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberley L. 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