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Title: An N-terminal G11A mutation in HOXD13 causes synpolydactyly and interferes with Gli3R function during limb pre-patterning
Authors: Brison, Nathalie ×
Debeer, Philippe
Fantini, Sebastian
Oley, Christine
Zappavigna, Vincenzo
Luyten, Frank P
Tylzanowski, Przemko #
Issue Date: Feb-2012
Publisher: IRL Press
Series Title: Human Molecular Genetics vol:21 issue:11 pages:2464-2475
Abstract: Synpolydactyly (SPD) is a distal limb anomaly characterized by incomplete digit separation and the presence of supernumerary digits in the syndactylous web. This phenotype has been associated with mutations in the homeodomain or polyalanine tract of the HOXD13 gene. We identified a novel mutation (G11A) in HOXD13 that is located outside the previously known domains and affects the intracellular half life of the protein. Misexpression of HOXD13(G11A) in the developing chick limb phenocopied the human SPD phenotype. Finally, we demonstrated through in vitro studies, that this mutation has a destabilizing effect on GLI3R uncovering an unappreciated mechanism by which HOXD13 determines patterning of the limb.
URI: 
ISSN: 0964-6906
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Neuro-musculo-skeletal Research (-)
Clinical Genetics
Embryo and Stemcells (-)
× corresponding author
# (joint) last author

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