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PTCHD1 Binds Cholesterol but Not Sonic Hedgehog, Suggesting a Distinct Cellular Function.

Mimmu K Hiltunen1, Alex J Timmis2, Maren Thomsen3

  • 1Faculty of Biological and Environmental Sciences, University of Helsinki, 00100 Helsinki, Finland.

International Journal of Molecular Sciences
|February 11, 2023
PubMed
Summary
This summary is machine-generated.

Mutations in the PTCHD1 gene are linked to autism. This study shows PTCHD1 binds cholesterol and interacts with proteins involved in cell stress, suggesting a distinct function from other Patched proteins.

Keywords:
Patched domain-containing 1RNA granuleautism spectrum disordercholesterolneurodevelopment

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Area of Science:

  • Genetics
  • Biochemistry
  • Cell Biology

Background:

  • Deleterious mutations in the X-linked Patched domain-containing 1 (PTCHD1) gene are implicated in up to 1% of autism spectrum disorder (ASD) cases.
  • The precise function of the PTCHD1 protein remains largely uncharacterized, despite its association with ASD.
  • Existing hypotheses suggest roles in sterol transport and Hedgehog signaling, but experimental evidence is conflicting and limited.

Purpose of the Study:

  • To investigate the biochemical function and cellular roles of the PTCHD1 protein.
  • To clarify PTCHD1's involvement, or lack thereof, in canonical Hedgehog signaling pathways.
  • To identify PTCHD1 interacting proteins and elucidate its contribution to cellular processes.

Main Methods:

  • Development of a robust method for expressing and purifying PTCHD1 from Spodoptera frugiperda cells using glycol-diosgenin.
  • In vitro and in silico analyses to assess PTCHD1's interaction with Hedgehog signaling components.
  • Co-immunoprecipitation assays to identify PTCHD1-specific protein interactors.

Main Results:

  • PTCHD1 does not function interchangeably with Patched 1 (PTCH1) in canonical Hedgehog signaling; it does not repress Smoothened in Ptch1-/- mouse embryonic fibroblasts and does not bind Sonic Hedgehog.
  • PTCHD1 exhibits cholesterol binding capabilities, similar to PTCH1.
  • Thirteen PTCHD1-specific protein interactors were identified, revealing a connection to cellular stress responses and RNA stress granule formation.

Conclusions:

  • PTCHD1's role in Hedgehog signaling is distinct from PTCH1, challenging previous assumptions.
  • PTCHD1 binds cholesterol, suggesting a potential role in sterol-related cellular functions.
  • The identification of PTCHD1 interactors involved in stress responses indicates a novel cellular function for PTCHD1, separate from canonical Patched family roles.