Article
An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function.
Development (Cambridge, England) - 1 Apr 2003
Caronia Giuliana, Goodman Frances R, McKeown Carole M E, Scambler Peter J, Zappavigna Vincenzo
Abstract excerpt
The 5' members of the Hoxa and Hoxd gene clusters play major roles in vertebrate limb development. One such gene, HOXD13, is mutated in the human limb malformation syndrome synpolydactyly. Both polyalanine tract expansions and frameshifting deletions in HOXD13 cause similar forms of this condition, but it remains unclear whether other kinds of HOXD13 mutations could produce different phenotypes. We describe a...
Topics
- Animals
- Body Patterning
- Cells, Cultured
- Chick Embryo
- Homeodomain Proteins
- Humans
- In Situ Hybridization
- Isoleucine
- Leucine
- Limb Deformities, Congenital
- Morphogenesis
- Pedigree
- Phenotype
- Point Mutation
- Receptor, EphA7
- Recombinant Fusion Proteins
- Transcription Factors