Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis.
Nat Genet
; 39(4): 454-6, 2007 Apr.
Article
in En
| MEDLINE
| ID: mdl-17353897
ABSTRACT
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.
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Database:
MEDLINE
Main subject:
T-Box Domain Proteins
/
Gene Silencing
/
Agenesis of Corpus Callosum
/
Homozygote
/
Microcephaly
Limits:
Humans
/
Male
Language:
En
Year:
2007
Type:
Article