Date of Award

5-16-2024

Publication Type

Thesis

Degree Name

M.Sc.

Department

Chemistry and Biochemistry

Supervisor

Panayiotis Vacratsis

Creative Commons License

Creative Commons Attribution 4.0 International License
This work is licensed under a Creative Commons Attribution 4.0 International License.

Abstract

MTMR2 is a phosphoinositide lipid phosphatase that plays a crucial role for endosomal membrane trafficking. Mutations in MTMR2 are associated with CMT4B1, an inheritable neuromuscular disorder affecting proper Schwann cell myelination. Reversible phosphorylation of Ser58 is ERK-mediated in a negative feedback loop and attenuates localization of MTMR2 to PI3P positive vesicles. Unphosphorylated MTMR2 sequesters to early endosomes where it depletes PI3P, and phosphorylated MTMR2 disperses cytoplasmically. In these studies, we developed high resolution mass spectrometry (HR-MS) targeted approaches that incorporated high definition multiple reaction monitoring (HD-MRM) to advance our understanding of Myotubularin (MTM) phosphorylation dynamics. We used these analytical tools to identify novel phosphorylation sites on MTMR2 (Ser49) and MTMR5 (Ser118, Ser1229, Thr1820, and either Ser1749/Thr1750). We were able to detect changes in phosphorylation on MTMR2 and MTMR5 in response to various conditions, i.e.: Caly A treatments, MAPK inhibitor treatments, and co?transfection experiments. Our results provide evidence that MTMR2 phosphorylation at Ser58 elicits a conformational change making this region more solvent exposed. Inhibitor studies revealed that MTMR5 Ser1229 may be a novel substrate of JNK. We also used a BioID approach to identify the MTMR2 proximity proteome in response to changes in Ser58 phosphorylation. We found evidence that MTMR2 distributes to regions of the cells occupied by proteins essential for synaptic dynamics and for regulating Schwann cell polarity. We also have evidence that MTMR10 is a potential MTMR2 pseudophosphatase binding partner and competes with MTMR5 for association with MTMR2.

Available for download on Thursday, May 15, 2025

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