Abstract
Hox genes regulate patterning during limb development. It is believed that they function in the determination of the timing and extent of local growth rates. Here, it is demonstrated that synpolydactyly, an inherited human abnormality of the hands and feet, is caused by expansions of a polyalanine stretch in the amino-terminal region of HOXD13. The homozygous phenotype includes the transformation of metacarpal and metatarsal bones to short carpal- and tarsal-like bones. The mutations identify the polyalanine stretch outside of the DNA binding domain of HOXD13 as a region necessary for proper protein function.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Amino Acid Sequence
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Base Sequence
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Chromosome Mapping
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Chromosomes, Human, Pair 2
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Cloning, Molecular
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Female
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Fingers / abnormalities*
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Fingers / embryology
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Genes, Homeobox*
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Genetic Linkage
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Homeodomain Proteins / chemistry
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Homeodomain Proteins / genetics*
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Homeodomain Proteins / physiology
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Humans
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Male
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Molecular Sequence Data
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Morphogenesis
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Multigene Family
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Mutation
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Pedigree
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Peptides / chemistry
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Polydactyly / diagnostic imaging
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Polydactyly / embryology
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Polydactyly / genetics*
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Polymerase Chain Reaction
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Radiography
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Syndactyly / diagnostic imaging
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Syndactyly / embryology
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Syndactyly / genetics*
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Toes / abnormalities*
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Toes / embryology
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Transcription Factors*
Substances
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HOXD13 protein, human
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Homeodomain Proteins
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Peptides
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Transcription Factors
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polyalanine
Associated data
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GENBANK/AF005219
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GENBANK/AF005220