Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/23262
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Type: Journal article
Title: Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2
Author: Saxena, A.
de Lagarde, D.
Leonard, H.
Williamson, S.
Vasudevan, V.
Christodoulou, J.
Thompson, E.
MacLeod, P.
Ravine, D.
Citation: Journal of Medical Genetics, 2006; 43(6):470-477
Publisher: British Med Journal Publ Group
Issue Date: 2006
ISSN: 0022-2593
1468-6244
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Responsibility: 
A Saxena, D de Lagarde, H Leonard, S L Williamson, V Vasudevan, J Christodoulou, E Thompson, P MacLeod, D Ravine
Abstract: Methods: Recent reports of another mRNA transcript transcribed from exon 1 (MeCP2_e1) prompted us to screen exon 1 among RNA samples from 20 females with classic or atypical RTT. Results: A previously reported 11 base pair deletion in exon 1 was detected in one subject with a milder phenotype. Although RNA expression for both protein isoforms was detected from the mutant allele, evaluation of MeCP2 protein in uncultured patient lymphocytes by immunocytochemistry revealed that MeCP2 protein production was restricted to only 74–76% of lymphocytes. X chromosome inactivation studies of genomic DNA revealed similar XCI ratios at the HUMARA locus (73:27 with HpaII and 74:26 with McrBC). We have demonstrated that translation but not transcription of the MeCP2_e2 isoform is ablated by the 11 nucleotide deletion, 103 nucleotides upstream of the e2 translation start site. Conclusions: These findings reveal that nucleotides within the deleted sequence in the 5'-UTR of the MeCP2_e2 transcript, while not required for transcription, are essential for translation. Keywords: 5'-UTR; MeCP2; MECP2; Rett syndrome; RNA secondary structure
Keywords: 5'-UTR; MeCP2; MECP2; Rett syndrome; RNA secondary structure
Description: Copyright © 2006 by the BMJ Publishing Group Ltd.
RMID: 0020060673
DOI: 10.1136/jmg.2005.036244
Published version: http://jmg.bmj.com/cgi/content/abstract/43/6/470
Appears in Collections:Paediatrics publications

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