HnRNP L and hnRNP LL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNA

• DOI: 10.1038/srep02931
• Publication Date: 2013-10-14T09:03:22Z
• Authors: Mohammad Alinoor ...; Akio Masuda; Kenji Ohe; Mikako Ito; David O. Hutchinson; Akila Mayeda; Andrew G. Engel; Kinji Ohno
• Keywords: Exonic splicing enhancer; Polypyrimidine tract-binding protein

Abstract CHRNA1 gene, encoding the muscle nicotinic acetylcholine receptor alpha subunit, harbors an inframe exon P3A. Inclusion of P3A disables assembly subunits. A single nucleotide mutation in identified congenital myasthenic syndrome causes exclusive inclusion The gains a de novo binding affinity for splicing enhancing RNA-binding protein, hnRNP LL and displaces suppressing L. L binds to another repressor PTB through proline-rich region promotes polypyrimidine tract upstream P3A, whereas lacking cannot bind PTB. Interaction with inhibits association U2AF 65 U1 snRNP downstream respectively, which defect definition. HnRNP thus antagonistically modulate PTB-mediated suppression