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Pre-spliceosomal binding of U1 small nuclear ribonucleoprotein (RNP) and heterogenous nuclear RNP E1 is associated with suppression of a growth hormone receptor pseudoexon

Akker, SA; Misra, S; Aslam, S; Morgan, EL; Smith, PJ; Khoo, B; Chew, SL; (2007) Pre-spliceosomal binding of U1 small nuclear ribonucleoprotein (RNP) and heterogenous nuclear RNP E1 is associated with suppression of a growth hormone receptor pseudoexon. MOL ENDOCRINOL , 21 (10) 2529 - 2540. 10.1210/me.2007-0038. Green open access

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Abstract

Pseudoexons occur frequently in the human genome. This paper characterizes a pseudoexon in the GH receptor gene. Inappropriate activation of this pseudoexon causes Laron syndrome. Using in vitro splicing assays, pseudoexon silencing was shown to require a combination of a weak 5 ' pseudosplice- site and splicing silencing elements within the pseudoexon. Immunoprecipitation experiments showed that specific binding of heterogenous nuclear ribonucleoprotein E1 ( hnRNP E1) and U1 small nuclear ribonucleoprotein ( snRNP) in the pre- spliceosomal complex was associated with silencing of pseudoexon splicing. The possible role of hnRNP E1 was further supported by RNA interference experiments in cultured cells. Immunoprecipitation experiments with three other pseudoexons suggested that pre- spliceosomal binding of U1 snRNP is a potential general mechanism of suppression of pseudoexons.

Type: Article
Title: Pre-spliceosomal binding of U1 small nuclear ribonucleoprotein (RNP) and heterogenous nuclear RNP E1 is associated with suppression of a growth hormone receptor pseudoexon
Open access status: An open access version is available from UCL Discovery
DOI: 10.1210/me.2007-0038
Publisher version: http://dx.doi.org/10.1210/me.2007-0038
Language: English
Additional information: Copyright © 2007 by The Endocrine Society
Keywords: MESSENGER-RNA, CRYPTIC EXON, 5'-SPLICE-SITE SELECTION, GERMLINE MUTATIONS, SPLICING DEFECTS, GENE-EXPRESSION, HNRNP A1, SITES, ELEMENT, SNRNP
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Renal Medicine
URI: https://discovery.ucl.ac.uk/id/eprint/148070
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