Document Detail

The molecular basis of hypodactyly (Hd): a deletion in Hoxa 13 leads to arrest of digital arch formation.
MedLine Citation:
PMID:  8673126     Owner:  NLM     Status:  MEDLINE    
Hypodactyly (Hd) is a semidominant mutation in mice that maps in a genetic interval overlapping the Hoxa cluster. The profound deficiency of digital arch structures in Hd/Hd mice is consistent with a defect in a gene activated late in limb morphogenesis. We have determined the structure of the Hoxa13 gene and describe a 50-base pair deletion in the first exon of the Hd allele that probably arose from unequal recombination or misalignment between triplet repeats. It is predicted that no Hoxa13 protein is made from Hd mRNA. The hypodactyly limb phenotype is similar to that of Hoxd13-deficient mice in sharing defects along multiple axes and alterations in cartilage maturation; however, the overall effects on digital arch formation are more severe in Hd/Hd mice. Our results confirm the critical role of AbdB-like Hox genes in the development of the autopod, and add to the spectrum of mutations involving triplet repeats.
D P Mortlock; L C Post; J W Innis
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Nature genetics     Volume:  13     ISSN:  1061-4036     ISO Abbreviation:  Nat. Genet.     Publication Date:  1996 Jul 
Date Detail:
Created Date:  1996-08-12     Completed Date:  1996-08-12     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  284-9     Citation Subset:  IM    
Department of Human Genetics, University of Michigan Medical School, Ann Arbor 48109-0618, USA.
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MeSH Terms
Amino Acid Sequence
Base Sequence
Embryo, Mammalian / abnormalities,  pathology
Gene Expression Regulation, Developmental
Homeodomain Proteins / biosynthesis,  genetics*
Limb Deformities, Congenital*
Mice, Inbred Strains
Molecular Sequence Data
Multigene Family
Sequence Deletion
Toes / abnormalities
Reg. No./Substance:
0/Homeodomain Proteins; 0/homeobox protein HOXA13

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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