Identification of mutations in CUL7 in 3-M syndrome

@article{Huber2005IdentificationOM,
  title={Identification of mutations in CUL7 in 3-M syndrome},
  author={C{\'e}line Huber and Dora Dias-Santagata and Anna Glaser and James O’Sullivan and Raja Brauner and Kenneth Wu and Xinsong Xu and Kerra Pearce and Rong Wang and Maria Luisa Giovannucci Uzielli and Nathalie Dagoneau and Wassim Chemaitilly and Andrea Superti-Furga and Helo{\'i}sa G Dos Santos and Andr{\'e} M{\'e}garban{\'e} and Gilles Morin and G. Gillessen‐kaesbach and Raoul C.M. Hennekam and Ineke van der Burgt and Graeme C. M. Black and Peter Ellis Clayton and Andrew P. Read and Martine Le Merrer and Peter J. Scambler and Arnold Munnich and Zhen-Qiang Pan and Robin M. Winter and Val{\'e}rie Cormier-Daire},
  journal={Nature Genetics},
  year={2005},
  volume={37},
  pages={1119-1124}
}
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… 

OBSL1 mutations in 3‐M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels

Real‐time quantitative PCR analysis for OBSL1, CUL7, IGFBP2, and IGFBP5, using cultured fibroblast RNAs from two patients with distinct OBSl1 mutations suggests that OBS L1 modulates the expression of IGFBP proteins.

The Genetics of 3-M Syndrome: Unravelling a Potential New Regulatory Growth Pathway

The physical interaction of OBSL1 with both CUL7 and CCDC8 and its potential role in the regulation of Cul7 expression suggest all three proteins are members of the same growth-regulatory pathway.

Impaired plasma membrane localization of ubiquitin ligase complex underlies 3-M syndrome development.

It is shown here that CCDC8, derived from a retrotransposon Gag protein in placental mammals, exclusively localized on the plasma membrane and was phosphorylated by CK2 and GSK3, and LL5β, a plasma membrane protein that regulates cell migration, as a substrate of 3-M ligase.

Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia

A de novo deletion of the CUL4B gene is identified in a boy with syndromic mental retardation, minor facial anomalies, short stature, delayed puberty, hypogonadism, relative macrocephaly, gait ataxia, and pes cavus, all manifestations described previously in patients with Cul4B point mutations.

Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling.

The status of the GH-IGF axis evaluation could reflect a degree of GH resistance and/or IGF1 resistance, which is consistent with the signalling data in which the CUL7(-/-) cells showed impaired IGF1 signalling, CCDC8-/-) Cells showed impaired GH signalling and the OBSL1-/- cells showed impairment in both pathways.

Dissecting the genotype to phenotype relationships of genomic disorders

Over the last decade, major advances in the development and application of microarray-based comparative genomic hybridisation (aCGH) technology have significantly contributed to our understanding of

3-M syndrome: a growth disorder associated with IGF2 silencing

3-M syndrome is associated with a gene expression profile of reduced IGF2 expression and increased H19 expression similar to that found in Silver–Russell syndrome, and loss of autocrine IGF-II in the growth plate may be associated with the short stature seen in children with 3-M Syndrome.

Disruption of the Fbxw8 Gene Results in Pre- and Postnatal Growth Retardation in Mice

Results demonstrate that the FBXW8-CUL7 complex plays a significant role in growth control and results in significant reduction in embryo size and neonatal lethality in mice lacking Fbxw8 by gene trapping.
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