Disrupted minor intron splicing is prevalent in Mendelian disorders.

ABSTRACT:

Background

Splicing is crucial for proper gene expression, and is predominately executed by the major spliceosome. Conversely, 722 introns in 699 human minor intron-containing genes (MIGs) are spliced by the minor spliceosome. Splicing of these minor introns is disrupted in diseases caused by pathogenic variants in the minor spliceosome, ultimately leading to the aberrant expression of a subset of these MIGs. However, the effect of variants in minor introns and MIGs on diseases remains unexplored.

Methods

Variants in MIGs and associated clinical manifestations were identified using ClinVar. The HPO database was then used to curate the related symptoms and affected organ systems.

Results

We found pathogenic variants in 211 MIGs, which commonly resulted in intellectual

SUBMITTER: Olthof AM 

PROVIDER: S-EPMC7507305 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature