Generation of R272Q, S156A and K572R RHOT1/Miro1 point mutations in iPSCs from a healthy individual using FACS-assisted CRISPR/Cas9 genome editing


The GTPase Miro1 is tail anchored into the mitochondrial outer membrane and tethers mitochondria to molecular motors which is crucial for mitochondrial transport. Miro1 contains two EF hand, ion binding domains important for calcium sequestration. Miro1 is associated with Parkinson's disease (PD) due to its suggested interaction with PINK1 and Parkin. Rare variants in RHOT1 (encoding Miro1) were found in PD patients but Miro1's function in the brain is understudied. We gene edited three point mutations in healthy iPSCS EF hand R272Q was identified in a PD patient, S156A abolishes the proposed PINK1 phosphorylation site, K572R abolishes the main lysine targeted by pSer65-parkin. Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Schwarz L, Casadei N, Fitzgerald JC
Journal Stem cell research
Publication Date 2021 Aug;55:102469
PubMed 34359002
DOI 10.1016/j.scr.2021.102469

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