Ontology highlight
ABSTRACT:
SUBMITTER: Wimmer K
PROVIDER: S-EPMC7317903 | biostudies-literature | 2020 Jun
REPOSITORIES: biostudies-literature
Wimmer Katharina K Schamschula Esther E Wernstedt Annekatrin A Traunfellner Pia P Amberger Albert A Zschocke Johannes J Kroisel Peter P Chen Yunjia Y Callens Tom T Messiaen Ludwine L
Human mutation 20200311 6
Uncovering frequent motives of action by which variants impair 3' splice site (3'ss) recognition and selection is essential to improve our understanding of this complex process. Through several mini-gene experiments, we demonstrate that the pyrimidine (Y) to purine (R) transversion NM_000267.3(NF1):c.1722-11T>G, although expected to weaken the polypyrimidine tract, causes exon skipping primarily by introducing a novel AG in the AG-exclusion zone (AGEZ) between the authentic 3'ss AG and the branc ...[more]