Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis
Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis
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DOI：
10.1038/ng1993
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发表时间：
2007-04-01
期刊：
影响因子：
30.8
通讯作者：
Lyonnet, Stanislas
中科院分区：
文献类型：
--
作者：
Baala, Lekbir;Briault, Sylvain;Lyonnet, Stanislas
神经祖细胞的增殖和迁移在神经发生过程中影响脑的大小。我们报道了一种常染色体隐性小头畸形综合征，它与3号染色体短臂和10号染色体长臂之间的纯合平衡易位共分离，并且我们表明3号染色体断点处的位置效应使eomesodermin转录本（EOMES，也称为T - box - brain2，TBR2）沉默。结合EOMES在发育中的人脑中的表达模式，我们的数据表明EOMES参与神经元分裂和/或迁移。因此，不仅编码有丝分裂和凋亡蛋白的基因发生突变，而且编码转录因子的基因发生突变也可能是畸形小头畸形综合征的原因。
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.