Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2016-08

AUTHORS

Josefine S Witteveen, Marjolein H Willemsen, Thaís C D Dombroski, Nick H M van Bakel, Willy M Nillesen, Josephus A van Hulten, Eric J R Jansen, Dave Verkaik, Hermine E Veenstra-Knol, Conny M A van Ravenswaaij-Arts, Jolien S Klein Wassink-Ruiter, Marie Vincent, Albert David, Cedric Le Caignec, Jolanda Schieving, Christian Gilissen, Nicola Foulds, Patrick Rump, Tim Strom, Kirsten Cremer, Alexander M Zink, Hartmut Engels, Sonja A de Munnik, Jasper E Visser, Han G Brunner, Gerard J M Martens, Rolph Pfundt, Tjitske Kleefstra, Sharon M Kolk

ABSTRACT

Numerous genes are associated with neurodevelopmental disorders such as intellectual disability and autism spectrum disorder (ASD), but their dysfunction is often poorly characterized. Here we identified dominant mutations in the gene encoding the transcriptional repressor and MeCP2 interactor switch-insensitive 3 family member A (SIN3A; chromosome 15q24.2) in individuals who, in addition to mild intellectual disability and ASD, share striking features, including facial dysmorphisms, microcephaly and short stature. This phenotype is highly related to that of individuals with atypical 15q24 microdeletions, linking SIN3A to this microdeletion syndrome. Brain magnetic resonance imaging showed subtle abnormalities, including corpus callosum hypoplasia and ventriculomegaly. Intriguingly, in vivo functional knockdown of Sin3a led to reduced cortical neurogenesis, altered neuronal identity and aberrant corticocortical projections in the developing mouse brain. Together, our data establish that haploinsufficiency of SIN3A is associated with mild syndromic intellectual disability and that SIN3A can be considered to be a key transcriptional regulator of cortical brain development. More... »

PAGES

877-887

References to SciGraph publications

  • 2016-12. The histone demethylase dKDM5/LID interacts with the SIN3 histone deacetylase complex and shares functional similarities with SIN3 in EPIGENETICS & CHROMATIN
  • 2014-10. Refining analyses of copy number variation identifies specific genes associated with developmental delay in NATURE GENETICS
  • 2011-08. Upregulation of E2F1 in cerebellar neuroprogenitor cells and cell cycle arrest during postnatal brain development in IN VITRO CELLULAR & DEVELOPMENTAL BIOLOGY - ANIMAL
  • 2006-12. Polarization and orientation of retinal ganglion cells in vivo in NEURAL DEVELOPMENT
  • 2004-02. Cortical neurons arise in symmetric and asymmetric division zones and migrate through specific phases in NATURE NEUROSCIENCE
  • 2015-07. Molecular underpinnings of prefrontal cortex development in rodents provide insights into the etiology of neurodevelopmental disorders in MOLECULAR PSYCHIATRY
  • 2005-02. p53 induces differentiation of mouse embryonic stem cells by suppressing Nanog expression in NATURE CELL BIOLOGY
  • 2016-12. Genome-wide studies reveal novel and distinct biological pathways regulated by SIN3 isoforms in BMC GENOMICS
  • 2005-01. Sin3: a flexible regulator of global gene expression and genome stability in CURRENT GENETICS
  • 2014-07. Genome sequencing identifies major causes of severe intellectual disability in NATURE
  • 2014-02. Tbr1 haploinsufficiency impairs amygdalar axonal projections and results in cognitive abnormality in NATURE NEUROSCIENCE
  • 2014-04-02. Transcriptional landscape of the prenatal human brain in NATURE
  • 2016-08. De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 1998-05. Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex in NATURE
  • 2002-04. Mapping context and content: the BrainMap model in NATURE REVIEWS NEUROSCIENCE
  • 2014-09. A framework for the interpretation of de novo mutation in human disease in NATURE GENETICS
  • 2011-12. The opposing transcriptional functions of Sin3a and c-Myc are required to maintain tissue homeostasis in NATURE CELL BIOLOGY
  • 2014-12. De novo TBR1 mutations in sporadic autism disrupt protein functions in NATURE COMMUNICATIONS
  • 2005-10. Developmental cell biology: The cell biology of neurogenesis in NATURE REVIEWS MOLECULAR CELL BIOLOGY
  • 2007-06. Neuronal subtype specification in the cerebral cortex in NATURE REVIEWS NEUROSCIENCE
  • 2015-01. Progenitor genealogy in the developing cerebral cortex in CELL AND TISSUE RESEARCH
  • 2011-03. Developmental malformation of the corpus callosum: a review of typical callosal development and examples of developmental disorders with callosal involvement in JOURNAL OF NEURODEVELOPMENTAL DISORDERS
  • 2014-12. Microcephaly disease gene Wdr62 regulates mitotic progression of embryonic neural stem cells and brain size in NATURE COMMUNICATIONS
  • 1999-10. Transcriptional repression by REST: recruitment of Sin3A and histone deacetylase to neuronal genes in NATURE NEUROSCIENCE
  • 2012-12. Chromosome 15q24 microdeletion syndrome in ORPHANET JOURNAL OF RARE DISEASES
  • 2010-09-09. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations in NATURE
  • 2007-01. Genome-wide atlas of gene expression in the adult mouse brain in NATURE
  • 2008-06. Nanog and Oct4 associate with unique transcriptional repression complexes in embryonic stem cells in NATURE CELL BIOLOGY
  • 2005-03. BrainMap in NEUROINFORMATICS
  • 2010-11. Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture in NATURE GENETICS
  • 2010-11. WDR62 is associated with the spindle pole and is mutated in human microcephaly in NATURE GENETICS
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng.3619

    DOI

    http://dx.doi.org/10.1038/ng.3619

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1032279545

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/27399968


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