Publication Date:
1996-04-26
Description:
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.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Muragaki, Y -- Mundlos, S -- Upton, J -- Olsen, B R -- AR36819/AR/NIAMS NIH HHS/ -- AR36820/AR/NIAMS NIH HHS/ -- New York, N.Y. -- Science. 1996 Apr 26;272(5261):548-51.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/8614804" target="_blank"〉PubMed〈/a〉
Keywords:
Amino Acid Sequence
;
Base Sequence
;
Chromosome Mapping
;
Chromosomes, Human, Pair 2
;
Cloning, Molecular
;
Female
;
Fingers/*abnormalities/embryology
;
*Genes, Homeobox
;
Genetic Linkage
;
Homeodomain Proteins/chemistry/*genetics/physiology
;
Humans
;
Male
;
Molecular Sequence Data
;
Morphogenesis
;
Multigene Family
;
Mutation
;
Pedigree
;
Peptides/chemistry
;
Polydactyly/embryology/*genetics/radiography
;
Polymerase Chain Reaction
;
Syndactyly/embryology/*genetics/radiography
;
Toes/*abnormalities/embryology
;
*Transcription Factors
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
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