mitfa notes (Danio rerio, UniProt Q9PWC2, ZFIN:ZDB-GENE-990910-11; nacre)

2026-09-27 — review for DANRE_DUPLICATION (pair mitfa/mitfb)

Deep research: just deep-research-falcon DANRE mitfa (run by the coordinator) completed
during the review (mitfa-deep-research-falcon.md). It agrees with the cached-literature
picture: nuclear localization is family-level inference, mitfa;tfec double mutants lack
xanthophores, and mitfa/mitfb single and double mutants have a normal RPE. Its quotes are
used for the nucleus IBA and the NEW xanthophore term.

Key findings with provenance

• nacre is mitfa: PMID:10433906;
  PMID:10433906;
  cell-autonomous, rescue and ectopic melanization: PMID:10433906.
• Multiple stages of melanocyte differentiation (temperature-sensitive allele):
  PMID:21146516.
• Expression partition with mitfb: PMID:11543618.
• RPE: mitfa and mitfb single and double mutants have a normal RPE
  PMID:23139843; mitfa is sufficient to induce retinal
  pigmentation when misexpressed PMID:23139843. tfec is the likely redundant factor
  [PMID:42663426 abstract, triple mutant].
• Tfec interplay: PMID:33439865;
  choroid fissure: PMID:32541011.
• Xanthophores: dominant-negative DNA-binding-domain allele PMID:40123122; mitfa;mitfb double nulls show reduced
  xanthophores (PMID:37823232, PMID:40123122).
• Parallel regulators: TFAP2 (PMID:20862309, PMID:28249010), kit (PMID:15300437), ErbB/kitlga
  (PMID:23364329) — mitfa perturbations used as tools; melanocyte differentiation annotations
  are all consistent with the known requirement.

Curation decisions (summary)

• Core: GO:0000981 (IBA, IDA), GO:0000978 (IBA), nucleus; melanocyte differentiation
  (all IMP/IGI/IBA ACCEPT).
• MODIFY GO:0006351 DNA-templated transcription (IDA) -> GO:0006357.
• REMOVE GO:0071228 cellular response to tumor cell (PMID:35929478; full text read): mitfa
  acts inside the melanoma cells as the conditional oncogenic driver, it is not a response of
  a cell to a stimulus from a tumor cell, which is what the term defines.
• UNDECIDED GO:0007623 circadian rhythm (PMID:26278158, abstract only; abstract never
  mentions mitfa).
• NEW GO:0050936 xanthophore differentiation (mirrored on mitfb).