24 research outputs found
Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations
BACKGROUND: Females with the neurological disorder Rett syndrome are heterozygous for mutations in X-linked MECP2 that encodes methyl-CpG binding protein 2 (MeCP2) thought to act as a transcriptional repressor. To identify target genes for MeCP2 modulation, we studied global gene expression in single cell-derived wild-type and mutant MECP2 expressing fibroblast clones with four common mutations (R106W, R306C, 705delG, 1155del32) and in lymphoblastoid cell lines (LCLs) that included four mutant MeCP2 (T158M, 803delG, R168X and 1159del28) expressing, and five (1159del28, R106W, R255X, 803delG, 803delG) wild-type MeCP2 expressing lines. METHODS: Clonality and mutation status were verified by androgen receptor methylation assays for X-inactivation and by sequencing MECP2 transcripts. Expression studies were done with oligonucleotide microarrays (Affymetrix U95) and verified with real-time quantitative RT-PCR using Sybr Green. RESULTS: Expression of 49 transcripts was increased, and expression of 21 transcripts was decreased, in at least 3 of 4 mutant/wild-type fibroblast comparisons. Transcript levels of 11 genes, determined by quantitative RT-PCR, were highly correlated with the microarray data. Therefore, multiple additional clones from two Rett individuals were tested by RT-PCR only. Striking expression differences were found in both mutant and wildtype MeCP2 expressing clones. Comparing expression profiles of lymphoblastoid cell lines yielded 16 differentially expressed genes. CONCLUSIONS: MeCP2 deficiency does not lead to global deregulation of gene expression. Either MeCP2's in vivo function does not involve widespread transcriptional repression, or its function is redundant in cell types that also express other methyl-CpG binding proteins. Our data suggest that clonal fibroblast strains may show substantial inter-strain variation, making them a difficult and unstable resource for genome-wide expression profiling studies
Seasonal changes
To date, no other studies have examined the seasonal changes in circulating levels of various bile acids in the plasma of wild North American black bears, Ursus americanus. Using gas chromatography, bile acid concentrations were measured in plasma sample
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Erratum: On the role of artificial intelligence in medical imaging of COVID-19 (Patterns (2021) 2(6), (S2666389921000957), (10.1016/j.patter.2021.100269))
The corrected full text is available on Brunel University Reasearch Archive at: https://bura.brunel.ac.uk/handle/2438/26331.Copyright © 2021 The Author(s). (Patterns 2, 100269-1–100269-18; June 11, 2021).
Due to an error in production, the references for this article were incorrectly numbered upon publication of the typeset paper, May 26, 2021. Since this is a meta-analysis, incorrect numbering of references may have caused misinterpretation of the conclusions. The corrected version of the article is available online as of June 5, 2021, and we sincerely apologize to our readers for any confusion that may have resulted from this error