title: A gain of function mutation causing skeletal overgrowth in the rapunzel mutant.
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 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.
authors.affiliation: Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.
authors.forename: Julie
authors.initials: J
authors.lastname: Green
authors.forename: Jennifer J
authors.initials: JJ
authors.lastname: Taylor
authors.forename: Anna
authors.initials: A
authors.lastname: Hindes
authors.forename: Stephen L
authors.initials: SL
authors.lastname: Johnson
authors.forename: Matthew I
authors.initials: MI
authors.lastname: Goldsmith
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D019521:Body Patterning; D017124:Conserved Sequence; D004625:Embryo, Nonmammalian / Q000378:metabolism; D018507:Gene Expression Regulation, Developmental; D017403:In Situ Hybridization; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype; D015027:Zebrafish / Q000196:embryology* / Q000235:genetics* / Q000502:physiology; D029961:Zebrafish Proteins / Q000235:genetics* / Q000378:metabolism
chemical_list: D029961:Zebrafish Proteins