POLG_CPEO-critria-update

[elbayaliyev]

Description

Update the POLG_CPEO criTRia entry to clarify evidence details and flag items that need curator review. The reviewed sources support Parkinson disease association/modifier evidence and gene-level POLG biology, but do not clearly support a CPEO-specific causal relationship for the POLG CAG/polyglutamine repeat.

Fixes: #465

Major Changes

• None.

Minor Changes

• Updated vague evidence details for the POLG_CPEO entry.
• Added curator-review language for evidence rows not directly supported as CPEO-specific POLG CAG-repeat evidence.
• Clarified that some experimental evidence is gene-level POLG biology rather than tandem-repeat/locus-specific evidence.
• Updated the root-level Description to reflect the disputed status and lack of direct CPEO-specific repeat evidence in the reviewed sources.

Curator Review Needed

• Probands / pmid:22963882

  • This source describes 191 Parkinson disease cases and 191 controls sequenced for the POLG1 CAG repeat.
  • It does not describe CPEO probands.
  • Review whether this row should remain scored as CPEO proband evidence.

• Regulatory impact / pmid:22963882

  • The source discusses possible repeat-related effects but does not experimentally demonstrate CPEO-specific repeat-dependent expression, splicing, or epigenetic impact.
  • Review whether this evidence type and score are appropriate.
    POLG_CPEO curator review needed #465

Gene-Level Evidence

• Biochemical function / pmid:22963882

  • POLG encodes mitochondrial DNA polymerase gamma, which is relevant to mtDNA replication/repair.
  • This is gene-level evidence, not direct POLG CAG-repeat evidence for CPEO.

• Protein interaction / pmid:22963882

  • Polymerase gamma is described as a POLG1/POLG2 protein complex.
  • This supports gene-level protein-complex biology but does not show altered interaction caused by the CAG repeat in CPEO.
    POLG_CPEO curator review needed #465

Checklist

• All changes are well summarized
• Curator confirms whether PD association evidence should be retained in a CPEO locus curation
• Curator confirms whether gene-level POLG biology should remain scored as experimental evidence
• Curator confirms whether the regulatory impact row is supported
• Check all tests pass
• Check that the website preview looks good
• Update the STRchive version in CITATION.cff, format X.Y.Z. If any major changes, increment Y. If only minor changes, increment Z. If the breaking change (rare), increment X.
• Ask someone to review this PR

[netlify]

✅ Deploy Preview for strchive ready!

Name	Link
🔨 Latest commit	dfb4184
🔍 Latest deploy log	https://app.netlify.com/projects/strchive/deploys/6a11db14fd384c0008480503
😎 Deploy Preview	https://deploy-preview-466--strchive.netlify.app
📱 Preview on mobile	Toggle QR Code... Use your smartphone camera to open QR code link.

---

To edit notification comments on pull requests, go to your Netlify project configuration.