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Aberrant Single Exon Skipping is not Altered by Age in Exons of NF1, RABAC1, AATF or PCGF2 in Human Blood Cells and Fibroblasts
Institute of Human Genetics, University of Ulm, Albert Einstein Allee 11, Ulm D 89070, Germany
Research Group Chemical Function in Biosystems, University of Ulm, Albert Einstein Allee 11, Ulm D 89070, Germany
Max Planck Institute for Intelligent Systems, Stuttgart, ZWE Biomaterials, Heisenbergstrasse 3, Stuttgart 70569, Germany
* Author to whom correspondence should be addressed.
Received: 13 June 2011; in revised form: 21 July 2011 / Accepted: 25 July 2011 / Published: 2 August 2011
Abstract: In human pre-mRNA splicing, infrequent errors occur resulting in erroneous splice products as shown in a genome-wide approach. One characteristic subgroup consists of products lacking one cassette exon. The noise in the splicing process, represented by those misspliced products, can be increased by cold shock treatment or by inhibiting the nonsense mediated decay. Here, we investigated whether the splicing noise frequency increases with age in vivo in peripheral bloods cells or in vitro in cultured and aged fibroblasts from healthy donors. Splicing noise frequency was measured for four erroneously skipped NF1 exons and one exon of RABAC1, AATF and PCGF2 by RT-qPCR. Measurements were validated in cultured fibroblasts treated with cold shock or puromycin. Intragenic but not interpersonal differences were detected in splicing noise frequencies in vivo in peripheral blood cells of 11 healthy donors (15 y–85 y) and in in vitro senescent fibroblasts from three further donors. No correlation to the age of the donors was found in the splicing noise frequencies. Our data demonstrates that splicing error frequencies are not altered by age in peripheral blood cells or in vitro aged fibroblasts in the tested exons of the four investigated genes, indicating a high importance of correct splicing in these proliferating aged cells.
Keywords: splicing; noise; splice errors; mRNA processing
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Mellert, K.; Uhl, M.; Högel, J.; Lamla, M.; Kemkemer, R.; Kaufmann, D. Aberrant Single Exon Skipping is not Altered by Age in Exons of NF1, RABAC1, AATF or PCGF2 in Human Blood Cells and Fibroblasts. Genes 2011, 2, 562-577.
Mellert K, Uhl M, Högel J, Lamla M, Kemkemer R, Kaufmann D. Aberrant Single Exon Skipping is not Altered by Age in Exons of NF1, RABAC1, AATF or PCGF2 in Human Blood Cells and Fibroblasts. Genes. 2011; 2(3):562-577.
Mellert, Kevin; Uhl, Michael; Högel, Josef; Lamla, Markus; Kemkemer, Ralf; Kaufmann, Dieter. 2011. "Aberrant Single Exon Skipping is not Altered by Age in Exons of NF1, RABAC1, AATF or PCGF2 in Human Blood Cells and Fibroblasts." Genes 2, no. 3: 562-577.