A gain of function mutation causing skeletal overgrowth in the rapunzel mutant

Julie Green, Jennifer J. Taylor, Anna Hindes, Stephen L. Johnson, Matthew I. Goldsmith

Research output: Contribution to journalArticlepeer-review

19 Scopus citations

Abstract

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 rapunzelc14 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.

Original languageEnglish
Pages (from-to)224-234
Number of pages11
JournalDevelopmental Biology
Volume334
Issue number1
DOIs
StatePublished - Oct 1 2009

Keywords

  • Bone
  • Fin
  • Growth
  • Overgrowth
  • Skeleton
  • Zebrafish

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