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

Citations of this article
Mendeley users who have this article in their library.


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. © 2009 Elsevier Inc. All rights reserved.




Green, J., Taylor, J. J., Hindes, A., Johnson, S. L., & Goldsmith, M. I. (2009). A gain of function mutation causing skeletal overgrowth in the rapunzel mutant. Developmental Biology, 334(1), 224–234. https://doi.org/10.1016/j.ydbio.2009.07.025

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Save time finding and organizing research with Mendeley

Sign up for free