CHCHD2 is down-regulated in neuronal cells differentiated from iPS cells derived from patients with lissencephaly.
Genomics
; 106(4): 196-203, 2015 Oct.
Article
em En
| MEDLINE
| ID: mdl-26188257
ABSTRACT
The human cerebral cortex is peculiar for a six-layered cellular-sheet structure with convolution, which is a consequence of neuronal migration. Dysfunctions of the pathways contributing to this mechanism typically lead to lissencephaly manifesting smooth brain surfaces. To investigate the unknown mechanism underlying neuronal migration disorders, we generated induced pluripotent stem (iPS) cells from two patients with lissencephaly. Whole gene expression study for iPS cells derived from a patient with a LIS1 deletion showed reduced expression of the coiled-coil-helix-coiled-coil-helix domain containing 2 gene (CHCHD2), which was also confirmed in iPS cells derived from a patient with a TUBA1A mutation. CHCHD2 expression was detected in neuronal cells differentiated from normal iPS cells in a time-dependent manner, as well as in the brain of a fetus at 26-28 week gestational age, suggesting development-dependent expression. Migrating neuronal cells showed CHCHD2 expression, suggesting its functional relevance to neuronal migration.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fatores de Transcrição
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Proteínas Mitocondriais
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Lisencefalia
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Células-Tronco Pluripotentes Induzidas
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Neurônios
Limite:
Female
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Humans
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Infant
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Male
Idioma:
En
Ano de publicação:
2015
Tipo de documento:
Article