deep-research-tubb8

Deep research: TUBB8 cytoskeleton genes in PHRs

Metadata

Statusdone
Assignedagent-446
Agent identityead7f53029b7d01980e12f8beb6ad13f6907750479eb2951dd75eb63951922b8
Created2026-04-02T03:35:55.244025774+00:00
Started2026-04-02T03:36:44.231263398+00:00
Completed2026-04-02T03:41:24.646769365+00:00
Tagsresearch,deep,fan-out, eval-scheduled
Eval score0.87
└ blocking impact0.90
└ completeness0.90
└ coordination overhead0.90
└ correctness0.85
└ downstream usability0.88
└ efficiency0.88
└ intent fidelity0.88
└ style adherence0.85

Description

Goal

Deep literature research on TUBB8/TUBB8B β-tubulin genes in PHRs — 825-fold enrichment in copy-aware analysis (structural constituent of cytoskeleton).

Questions

  1. What is TUBB8? Beta-tubulin isotype specifically expressed in oocytes. What exactly does it do? It's the major β-tubulin for the meiotic spindle during oocyte maturation.
  2. TUBB8 mutations and female infertility: Mutations in TUBB8 cause oocyte maturation arrest and are a known cause of female infertility. What are the specific syndromes? How common?
  3. TUBB8B: What is the paralog? Is it also oocyte-specific? Functional or pseudogene?
  4. Copy number: We found TUBB8 on 5 p-arms (chr3p, chr9p, chr10p, chr16p, chr18p) and TUBB8B on 6 p-arms. Are multiple copies known in the literature? Are the extra copies functional or pseudogenes?
  5. Subtelomeric positioning: Is there any known reason for β-tubulin genes to be in subtelomeric regions? Is this discussed in the tubulin gene family literature?
  6. Community context: These are in communities C2 and C3. Is there a biological significance to having tubulin genes in PHR shared regions?
  7. T2T/CHM13 context: Were TUBB8 copies newly resolved by the T2T assembly? Are there more copies in CHM13 than GRCh38?

Output

Log detailed research. Save as deep_research_tubb8.md.

Validation

  • Oocyte biology and infertility connection is described
  • Copy number across arms is reconciled with literature
  • Whether extra copies are functional vs pseudogene is addressed

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Log