An alanine expanded PABPN1 causes increased utilization of intronic polyadenylation sites

2017年4月7日 npj Aging 3, Article number:6 (2017) doi:10.1038/s41514-017-0007-x




Tooba Abbassi-Daloii, Soheil Yousefi, Eleonora de Klerk, Laurens Grossouw, Muhammad Riaz, Peter A. C. ’t Hoen and Vered Raz

Muscle degeneration: RNA structures as modulator of muscle function
Transcriptional and post-transcriptional regulation of gene expression has a fundamental role in shaping the protein landscape. In skeletal muscles, the RNA landscape plays an important role in muscle function in both health and disease conditions. PABPN1 is a key regulator of mRNA processing in a late-onset muscular dystrophy and in aging. Here, the authors demonstrate that a decrease in PABPN1 function results in genome-wide alterations in mRNA structures. Reduced PABPN1 function alters both mRNA levels and RNA structures leading to altered protein sequences. Importantly, among the affected genes are muscle function regulators. Together, this study calls for a better understanding of alterations in RNA structures in disease and aging.


npj Aging and Mechanisms of Disease EISSN: 2056-3973(online)