Understanding human DNA variants affecting pre-mRNA splicing in the NGS era
LG Dufner-Almeida, RT do Carmo, C Masotti… - Advances in …, 2019 - Elsevier
Pre-mRNA splicing, an essential step in eukaryotic gene expression, relies on recognition of
short sequences on the primary transcript intron ends and takes place along transcription by
RNA polymerase II. Exonic and intronic auxiliary elements may modify the strength of exon
definition and intron recognition. Splicing DNA variants (SV) have been associated with
human genetic diseases at canonical intron sites, as well as exonic substitutions putatively
classified as nonsense, missense or synonymous variants. Their effects on mRNA may be …
short sequences on the primary transcript intron ends and takes place along transcription by
RNA polymerase II. Exonic and intronic auxiliary elements may modify the strength of exon
definition and intron recognition. Splicing DNA variants (SV) have been associated with
human genetic diseases at canonical intron sites, as well as exonic substitutions putatively
classified as nonsense, missense or synonymous variants. Their effects on mRNA may be …