000117718 001__ 117718
000117718 005__ 20181203021112.0
000117718 0247_ $$2doi$$a10.1006/geno.2002.6735
000117718 037__ $$aARTICLE
000117718 245__ $$aA t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects
000117718 269__ $$a2002
000117718 260__ $$c2002
000117718 336__ $$aJournal Articles
000117718 500__ $$aDepartment of Zoology and Animal Biology, University of Geneva, Sciences III, Quai Ernest Ansermet 30, 1211 Geneva 4, Switzerland.
000117718 520__ $$aMesomelic dysplasia is a severe shortening of forearms and forelegs, and is found in several distinct human syndromes. Here, we report the cloning of the breakpoints of a human t(2;8)(q31;p21) balanced translocation associated with mesomelic dysplasia of the upper limbs, as well as with vertebral defects. We show that this translocation does not disrupt any gene, hence it most likely exerts its deleterious effect by modifying gene regulation. The HOXD complex lies approximately 60 kb from the translocation breakpoint on chromosome 2. This cluster of genes has an important role in the development of both the vertebral column and the limbs. Only a few cases of mutations of these homeotic genes have been described so far in humans. However, gain- and loss-of-function of Hoxd genes in mice can induce mesomelic dysplasia-like phenotypes, suggesting that misexpression of HOXD genes may indeed be at the origin of this hereditary phenotype.
000117718 700__ $$aSpitz, F.
000117718 700__ $$aMontavon, T.
000117718 700__ $$aMonso-Hinard, C.
000117718 700__ $$aMorris, M.
000117718 700__ $$aVentruto, M. L.
000117718 700__ $$aAntonarakis, S.
000117718 700__ $$aVentruto, V.
000117718 700__ $$g141236$$aDuboule, D.$$0240276
000117718 773__ $$j79$$tGenomics$$k4$$q493-8
000117718 909C0 $$xU11705$$0252099$$pUPDUB
000117718 909CO $$pSV$$particle$$ooai:infoscience.tind.io:117718
000117718 937__ $$aUPDUB-ARTICLE-2002-009
000117718 973__ $$rREVIEWED$$sPUBLISHED$$aOTHER
000117718 980__ $$aARTICLE