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BMC Genomics. 2016 Jun 6;17:427. doi: 10.1186/s12864-016-2746-7.

Transcriptome analysis of human brain tissue identifies reduced expression of complement complex C1Q Genes in Rett syndrome.

Author information

1
School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, NSW, 2052, Australia.
2
Faculty of Medicine, University of New South Wales, Sydney, NSW, 2052, Australia.
3
School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, NSW, 2052, Australia. i.voineagu@unsw.edu.au.

Abstract

BACKGROUND:

MECP2, the gene mutated in the majority of Rett syndrome cases, is a transcriptional regulator that can activate or repress transcription. Although the transcription regulatory function of MECP2 has been known for over a decade, it remains unclear how transcriptional dysregulation leads to the neurodevelopmental disorder. Notably, little convergence was previously observed between the genes abnormally expressed in the brain of Rett syndrome mouse models and those identified in human studies.

METHODS:

Here we carried out a comprehensive transcriptome analysis of human brain tissue from Rett syndrome brain using both RNA-seq and microarrays.

RESULTS:

We identified over two hundred differentially expressed genes, and identified the complement C1Q complex genes (C1QA, C1QB and C1QC) as a point of convergence between gene expression changes in human and mouse Rett syndrome brain.

CONCLUSIONS:

The results of our study support a role for alterations in the expression level of C1Q complex genes in RTT pathogenesis.

KEYWORDS:

MECP2; Neurogenetics; Rett Syndrome; Transcriptome profiling

PMID:
27267200
PMCID:
PMC4895974
DOI:
10.1186/s12864-016-2746-7
[Indexed for MEDLINE]
Free PMC Article

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