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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Identification of mutations in CUL7 in 3-M syndrome
Nature Genetics, Volume 37, No. 10, Year 2005
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Description
Intrauterine growth retardation is caused by maternal, fetal or placental factors that result in impaired endovascular trophoblast invasion and reduced placental perfusion. Although various causes of intrauterine growth retardation have been identified, most cases remain unexplained. Studying 29 families with 3-M syndrome (OMIM 273750), an autosomal recessive condition characterized by severe pre- and postnatal growth retardation, we first mapped the underlying gene to chromosome 6p21.1 and then identified 25 distinct mutations in the gene cullin 7 (CUL7). CUL7 assembles an E3 ubiquitin ligase complex containing Skp1, Fbx29 (also called Fbw8) and ROC1 and promotes ubiquitination. Using deletion analysis, we found that CUL7 uses its central region to interact with the Skp1-Fbx29 heterodimer. Functional studies indicated that the 3-M-associated CUL7 nonsense and missense mutations R1445X and H1464P, respectively, render CUL7 deficient in recruiting ROC1. These results suggest that impaired ubiquitination may have a role in the pathogenesis of intrauterine growth retardation in humans. © 2005 Nature Publishing Group.
Authors & Co-Authors
Huber, Céline
France, Paris
Université Paris Cité
Dias-Santagata, Dora
United States, New York
Icahn School of Medicine at Mount Sinai
Glaser, Anna
United Kingdom, London
Ucl Great Ormond Street Institute of Child Health
O'Sullivan, James
United Kingdom, London
St Mary's Hospital
Brauner, Raja
France, Le Kremlin-bicetre
Hopital de Bicetre
Wu, Kenneth
United States, New York
Icahn School of Medicine at Mount Sinai
Xu, Xinsong
United States, New York
Icahn School of Medicine at Mount Sinai
Pearce, Kerra
United Kingdom, London
Ucl Great Ormond Street Institute of Child Health
Wang, Rong
United States, New York
Icahn School of Medicine at Mount Sinai
Uzielli, Maria Luisa
Italy, Florence
Università Degli Studi Di Firenze
Dagoneau, Nathalie
France, Paris
Université Paris Cité
Chemaitilly, Wassim
France, Paris
Université Paris Cité
Superti-Furga, Andrea
Switzerland, Lausanne
Centre Hospitalier Universitaire Vaudois
Dos Santos, Heloisa
Portugal, Lisbon
Medical Genetics Service
Megarbane, Andre
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Morin, Gilles
France, Amiens
Chu Amiens Picardie
Gillessen-Kaesbach, G.
Germany, Duisburg
Universität Duisburg-essen
Hennekam, Raoul C.M.
United Kingdom, London
Ucl Great Ormond Street Institute of Child Health
Van Der Burgt, Ineke
Netherlands, Nijmegen
Radboud University Medical Center
Black, Graeme C. M.
United Kingdom, London
St Mary's Hospital
Clayton, Peter E.
United Kingdom, Manchester
The University of Manchester
Read, Andrew P.
United Kingdom, London
St Mary's Hospital
Le Merrer, Martine F.
France, Paris
Université Paris Cité
Scambler, Peter James
United Kingdom, London
Ucl Great Ormond Street Institute of Child Health
Münnich, Arnold
France, Paris
Université Paris Cité
Pan, Zhen Qiang
United States, New York
Icahn School of Medicine at Mount Sinai
Winter, Robin
United Kingdom, London
Ucl Great Ormond Street Institute of Child Health
Cormier-Dairé, Valeŕie
France, Paris
Université Paris Cité
Statistics
Citations: 170
Authors: 28
Affiliations: 13
Identifiers
Doi:
10.1038/ng1628
ISSN:
10614036
e-ISSN:
15461718
Research Areas
Genetics And Genomics
Maternal And Child Health