A novel member of the F-box/WD40 gene family, encoding dactylin, is disrupted in the mouse dactylaplasia mutant View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1999-09

AUTHORS

Arend Sidow, Monique S. Bulotsky, Anne W. Kerrebrock, Bruce W. Birren, David Altshuler, Rudolf Jaenisch, Kenneth R. Johnson, Eric S. Lander

ABSTRACT

Early outgrowth of the vertebrate embryonic limb requires signalling by the apical ectodermal ridge (AER) to the progress zone (PZ), which in response proliferates and lays down the pattern of the presumptive limb in a proximal to distal progression. Signals from the PZ maintain the AER until the anlagen for the distal phalanges have been formed. The semidominant mouse mutant dactylaplasia (Dac) disrupts the maintenance of the AER, leading to truncation of distal structures of the developing footplate, or autopod. Adult Dac homozygotes thus lack hands and feet except for malformed single digits, whereas heterozygotes lack phalanges of the three middle digits. Dac resembles the human autosomal dominant split hand/foot malformation (SHFM) diseases. One of these, SHFM3, maps to chromosome 10q24 (Refs 6,7), which is syntenic to the Dac region on chromosome 19, and may disrupt the orthologue of Dac. We report here the positional cloning of Dac and show that it belongs to the F-box/WD40 gene family, which encodes adapters that target specific proteins for destruction by presenting them to the ubiquitination machinery. In conjuction with recent biochemical studies, this report demonstrates the importance of this gene family in vertebrate embryonic development. More... »

PAGES

ng0999_104

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/12709

DOI

http://dx.doi.org/10.1038/12709

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1001758524

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/10471509


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