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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis
Nature Genetics, Volume 39, No. 4, Year 2007
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Description
Neural progenitor proliferation and migration influence brain size during neurogenesis. We report an autosomal recessive microcephaly syndrome cosegregating with a homozygous balanced translocation between chromosomes 3p and 10q, and we show that a position effect at the breakpoint on chromosome 3 silences the eomesodermin transcript (EOMES), also known as T-box-brain2 (TBR2). Together with the expression pattern of EOMES in the developing human brain, our data suggest that EOMES is involved in neuronal division and/or migration. Thus, mutations in genes encoding not only mitotic and apoptotic proteins but also transcription factors may be responsible for malformative microcephaly syndromes. © 2007 Nature Publishing Group.
Authors & Co-Authors
Baala, Lekbir
Morocco, Agdal Rabat
Institut National D'hygiène
France, Paris
Hôpital Necker Enfants Malades
Briault, Sylvain
France, Paris
Inserm
France, Orleans
Chr D'orléans
Etchevers, Heather C.
France, Paris
Hôpital Necker Enfants Malades
Laumonnier, Frédéric
France, Paris
Inserm
Natiq, Abdelhafid
Morocco, Agdal Rabat
Institut National D'hygiène
Amiel, Jeanne
France, Paris
Hôpital Necker Enfants Malades
Boddaert, Nathalie
France, Paris
Hôpital Necker Enfants Malades
Pïcard, Capucine
France, Paris
Centre D'étude Des Déficits Immunitaires
Sbiti, Aziza
Morocco, Agdal Rabat
Institut National D'hygiène
Asermouh, A.
Morocco, Agdal Rabat
Hôpital D'enfants
Attié-Bitach, Tania
France, Paris
Hôpital Necker Enfants Malades
France, Paris
Université Paris Cité
Encha-Razavi, Féréchté
France, Paris
Hôpital Necker Enfants Malades
France, Paris
Université Paris Cité
Münnich, Arnold
France, Paris
Hôpital Necker Enfants Malades
France, Paris
Université Paris Cité
Sefiani, Abdelaziz
Morocco, Agdal Rabat
Institut National D'hygiène
Lyonnet, Stanislas L.
France, Paris
Hôpital Necker Enfants Malades
France, Paris
Université Paris Cité
Statistics
Citations: 196
Authors: 15
Affiliations: 7
Identifiers
Doi:
10.1038/ng1993
ISSN:
10614036
e-ISSN:
15461718