Dual roles for adenomatous polyposis coli in regulating retinoic acid biosynthesis and Wnt during ocular development

Proc Natl Acad Sci U S A. 2006 Sep 5;103(36):13409-14. doi: 10.1073/pnas.0601634103. Epub 2006 Aug 28.

Abstract

Congenital hypertrophy/hyperplasia of the retinal pigmented epithelium is an ocular lesion found in patients harboring mutations in the adenomatous polyposis coli (APC) tumor suppressor gene. We report that Apc-deficient zebrafish display developmental abnormalities of both the lens and retina. Injection of dominant-negative Lef reduced Wnt signaling in the lens but did not rescue retinal differentiation defects. In contrast, treatment of apc mutants with all-trans retinoic acid rescued retinal differentiation defects but had no apparent effect on the lens. We identified Rdh5 as a retina-specific retinol dehydrogenase controlled by APC. Morpholino knockdown of Rdh5 phenocopied the apc mutant retinal differentiation defects and was rescued by treatment with exogenous all-trans retinoic acid. Microarray analyses of apc mutants and Rdh5 morphants revealed a profound overlap in the transcriptional profile of these embryos. These findings support a model wherein Apc serves a dual role in regulating Wnt and retinoic acid signaling within the eye and suggest retinoic acid deficiency as an explanation for APC mutation-associated retinal defects such as congenital hypertrophy/hyperplasia of the retinal pigmented epithelium.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenomatous Polyposis Coli Protein / deficiency
  • Adenomatous Polyposis Coli Protein / genetics
  • Adenomatous Polyposis Coli Protein / metabolism*
  • Animals
  • Eye / drug effects
  • Eye / embryology*
  • Gene Expression Regulation, Developmental
  • Homozygote
  • Microinjections
  • Molecular Sequence Data
  • Mutation
  • Oligonucleotides, Antisense / pharmacology
  • Tretinoin / metabolism*
  • Tretinoin / pharmacology
  • Wnt Proteins / metabolism*
  • Zebrafish / embryology*
  • Zebrafish / genetics

Substances

  • Adenomatous Polyposis Coli Protein
  • Oligonucleotides, Antisense
  • Wnt Proteins
  • Tretinoin

Associated data

  • GENBANK/DQ000308