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Transcription profiling of human super frontal gyrus (post mortem brain) from Rett syndrome patients and age sex matched controls reveals FXYD1, an MeCP2 target gene overexpressed in the brains of Rett syndrome patients and Mecp2-null mice

ABSTRACT: Rett syndrome (RTT, OMIM 312750) is a severe X-linked neurodevelopmental disorder linked to heterozygous de novo mutations in the MECP2 gene. MECP2 encodes methyl-CpG-binding protein 2 (MeCP2), which represses gene transcription by binding to 5-methylcytosine residues in symmetrically positioned CpG dinucleotides. The disorder is almost exclusively diagnosed in females, because males affected by the disease usually die perinatally due to severe encephalopathy. Direct MeCP2 target genes underlying the neuropathogenesis of RTT remain largely unknown.

ORGANISM(S): Homo sapiens

DISEASE(S): Rett syndrome

SUBMITTER: Valerie Matagne

PROVIDER: E-GEOD-6955 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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FXYD1 is an MeCP2 target gene overexpressed in the brains of Rett syndrome patients and Mecp2-null mice.

Deng Vivianne V Matagne Valerie V Banine Fatima F Frerking Matthew M Ohliger Patricia P Budden Sarojini S Pevsner Jonathan J Dissen Gregory A GA Sherman Larry S LS Ojeda Sergio R SR

Human molecular genetics 20070219 6

Rett syndrome (RTT) is an X-linked neurodevelopmental disorder linked to heterozygous de novo mutations in the MECP2 gene. MECP2 encodes methyl-CpG-binding protein 2 (MeCP2), which represses gene transcription by binding to 5-methylcytosine residues in symmetrically positioned CpG dinucleotides. Direct MeCP2 targets underlying RTT pathogenesis remain largely unknown. Here, we report that FXYD1, which encodes a transmembrane modulator of Na(+), K(+) -ATPase activity, is elevated in frontal cortex ...[more]

PMID: 17309881

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