ZFIN ID: ZDB-PUB-090731-4
A gain of function mutation causing skeletal overgrowth in the rapunzel mutant
Green, J., Taylor, J.J., Hindes, A., Johnson, S.L., and Goldsmith, M.I.
Date: 2009
Source: Developmental Biology   334(1): 224-234 (Journal)
Registered Authors: Goldsmith, Matt, Hindes, Anna, Johnson, Stephen L., Taylor, Jennifer
Keywords: zebrafish, fin, bone, skeleton, growth, overgrowth
MeSH Terms:
  • Alleles
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Body Patterning
  • Conserved Sequence
  • Embryo, Nonmammalian/metabolism
  • Gene Expression Regulation, Developmental
  • In Situ Hybridization
  • Molecular Sequence Data
  • Mutation*
  • Phenotype
  • Zebrafish/embryology*
  • Zebrafish/genetics*
  • Zebrafish/physiology
  • Zebrafish Proteins/genetics*
  • Zebrafish Proteins/metabolism
PubMed: 19632218 Full text @ Dev. Biol.
Mechanisms that regulate the growth and form of the vertebrate skeleton are largely unknown. The zebrafish mutant rapunzel has heterozygous defects in bone development, resulting in skeletal overgrowth, thus identification of the genetic lesion underlying rapunzel might provide insight into the molecular basis of skeletogenesis. In this report, we demonstrate that the rapunzel mutant results from a missense mutation in the previously uncharacterized rpz gene. This conclusion is supported by genetic mapping, identification of a missense mutation in rapunzel(c14) in a highly conserved region of the rpz gene, and suppression of the rapunzel homozygous embryonic phenotype with morpholino knockdown of rpz. In addition, rpz transcripts are identified in regions correlating with the homozygous embryonic phenotype (head, pectoral fin buds, somites and fin fold). This report provides the first gene identification for a mutation affecting segment number in the zebrafish fin and development of both the fin ray (dermal) and the axial skeleton.