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  4. A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects
 
research article

A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects

Spitz, F.
•
Montavon, T.
•
Monso-Hinard, C.
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2002
Genomics

Mesomelic dysplasia is a severe shortening of forearms and forelegs, and is found in several distinct human syndromes. Here, we report the cloning of the breakpoints of a human t(2;8)(q31;p21) balanced translocation associated with mesomelic dysplasia of the upper limbs, as well as with vertebral defects. We show that this translocation does not disrupt any gene, hence it most likely exerts its deleterious effect by modifying gene regulation. The HOXD complex lies approximately 60 kb from the translocation breakpoint on chromosome 2. This cluster of genes has an important role in the development of both the vertebral column and the limbs. Only a few cases of mutations of these homeotic genes have been described so far in humans. However, gain- and loss-of-function of Hoxd genes in mice can induce mesomelic dysplasia-like phenotypes, suggesting that misexpression of HOXD genes may indeed be at the origin of this hereditary phenotype.

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Type
research article
DOI
10.1006/geno.2002.6735
Author(s)
Spitz, F.
Montavon, T.
Monso-Hinard, C.
Morris, M.
Ventruto, M. L.
Antonarakis, S.
Ventruto, V.
Duboule, D.  
Date Issued

2002

Published in
Genomics
Volume

79

Issue

4

Start page

493

End page

8

Note

Department of Zoology and Animal Biology, University of Geneva, Sciences III, Quai Ernest Ansermet 30, 1211 Geneva 4, Switzerland.

Editorial or Peer reviewed

REVIEWED

Written at

OTHER

EPFL units
UPDUB  
Available on Infoscience
February 25, 2008
Use this identifier to reference this record
https://infoscience.epfl.ch/handle/20.500.14299/19232
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