Phase separation as a possible mechanism for dosage sensitivity.

ABSTRACT:

Background

Deletion of haploinsufficient genes or duplication of triplosensitive ones results in phenotypic effects in a concentration-dependent manner, and the mechanisms underlying these dosage-sensitive effects remain elusive. Phase separation drives functional compartmentalization of biomolecules in a concentration-dependent manner as well, which suggests a potential link between these two processes, and warrants further systematic investigation.

Results

Here we provide bioinformatic and experimental evidence to show a close link between phase separation and dosage sensitivity. We first demonstrate that haploinsufficient or triplosensitive gene products exhibit a higher tendency to undergo phase separation. Assessing the well-established dosage-sensitive genes HNRNPK, PA

SUBMITTER: Yang L 

PROVIDER: S-EPMC10789095 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature