caa a22 4500 475846451 CHVBK 20180406123915.0 cr unu---uuuuu 170329e20000201xx s 000 0 eng 10.1007/PL00000687 doi (NATIONALLICENCE)springer-10.1007/PL00000687 RNA processing and human disease [Elektronische Daten] [A. V. Philips, T. A. Cooper*] Abstract.: Gene expression involves multiple regulated steps leading from gene to active protein. Many of these steps involve some aspect of RNA processing. Diseases caused by mutations that directly affect RNA processing are relatively rare compared with mutations that disrupt protein function. The vast majority of diseases of RNA processing result from loss of function of a single gene due to mutations in cis-acting elements required for pre-messenger RNA (mRNA) splicing. However, a few diseases are caused by alterations in the trans-actingfactors required for RNA processing and in the vast majority of cases it is the pre-mRNA splicing machinery that is affected. Clearly, alterations that disrupt splicing of pre-mRNAs from large numbers of genes would be lethal at the cellular level. A common theme among these diseases is that only subsets of genes are affected. This is consistent with an emerging view that different subsets of exons require different sets of cis-acting elements and trans-acting factors. Birkhäuser Verlag Basel,, 2000 Key words. Pre-mRNA nationallicence alternative splicing nationallicence spliceosome nationallicence U2AF nationallicence Philips A. V. Department of Pathology, Baylor College of Medicine, Houston (Texas 77030, USA), Fax +1 713 798 5838, e-mail: tcooper@bcm.tmc.edu, US aut Cooper* T. A. Department of Pathology, Baylor College of Medicine, Houston (Texas 77030, USA), Fax +1 713 798 5838, e-mail: tcooper@bcm.tmc.edu, US aut https://doi.org/10.1007/PL00000687 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/PL00000687 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Philips A. V. Department of Pathology, Baylor College of Medicine, Houston (Texas 77030, USA), Fax +1 713 798 5838, e-mail: tcooper@bcm.tmc.edu, US aut NATIONALLICENCE 700 1- Cooper* T. A. Department of Pathology, Baylor College of Medicine, Houston (Texas 77030, USA), Fax +1 713 798 5838, e-mail: tcooper@bcm.tmc.edu, US aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer