Contract grant sponsors: The Danish Medical Research Council (271-07-342, 11-107174, 271-08-0120); The Novo Nordisk Foundation (15430).
The ETFDH c.158A>G Variation Disrupts the Balanced Interplay of ESE- and ESS-Binding Proteins thereby Causing Missplicing and Multiple Acyl-CoA Dehydrogenation Deficiency
Article first published online: 28 OCT 2013
© 2013 WILEY PERIODICALS, INC.
Volume 35, Issue 1, pages 86–95, January 2014
How to Cite
Olsen, R. K. J., Brøner, S., Sabaratnam, R., Doktor, T. K., Andersen, H. S., Bruun, G. H., Gahrn, B., Stenbroen, V., Olpin, S. E., Dobbie, A., Gregersen, N. and Andresen, B. S. (2014), The ETFDH c.158A>G Variation Disrupts the Balanced Interplay of ESE- and ESS-Binding Proteins thereby Causing Missplicing and Multiple Acyl-CoA Dehydrogenation Deficiency. Hum. Mutat., 35: 86–95. doi: 10.1002/humu.22455
Communicated by Peter K. Rogan
- Issue published online: 18 DEC 2013
- Article first published online: 28 OCT 2013
- Accepted manuscript online: 7 OCT 2013 10:47AM EST
- Manuscript Accepted: 25 SEP 2013
- Manuscript Received: 19 DEC 2012
- The Danish Medical Research Council. Grant Numbers: 271-07-342, 11-107174, 271-08-0120
- The Novo Nordisk Foundation. Grant Number: 15430
Disclaimer: Supplementary materials have been peer-reviewed but not copyedited.
Figure S1. The identified splicing regulatory motifs in ETFDH exon 2 are evolutionary conserved. The nucleotide sequences of the 3′ end of ETFDH exon 2 from different species are shown with the hnRNP A1 binding motifs boxed in red and the SRSF1 binding motifs boxed in green. Pictograms of the hnRNP A1 score matrix (top) and the SRSF1 score matrix (below) are shown. A putative SRSF5 binding motif is boxed in pink. The sequences listed are from H. sapiens (RefSeq NM_004453.2), P. troglodytes (RefSeq XM_517508.2), M. musculus (RefSeq NM_025794.1), R. norvegicus (RefSeq NM_198742.2), B. taurus (RefSeq NM_001077130.1) and C. lupus (RefSeq XM_848688.1). The alignment was made using the Homologene Downloader from NCBI (http://www.ncbi.nlm.nih.gov/sites/homologene).
Table S1. Analysis of changes in ETFDH exon 2 binding affinities of the studied splicing regulatory proteins using the ASSEDA server (http://splice.uwo.ca/)
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