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- PMID: 19481195
- UKPMCID: 19481195
- DOI: 10.1016/j.ajhg.2009.04.021
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The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.
Hanson, Dan; Murray, Philip G; Sud, Amit; Temtamy, Samia A; Aglan, Mona; Superti-Furga, Andrea; Holder, Sue E; Urquhart, Jill; Hilton, Emma; Manson, Forbes D C; Scambler, Peter; Black, Graeme C M; Clayton, Peter E
Am J Hum Genet. 2009;84(6):801-6.
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Full-text held externally
- PMID: 19481195
- UKPMCID: 19481195
- DOI: 10.1016/j.ajhg.2009.04.021
Abstract
3-M syndrome is an autosomal-recessive primordial growth disorder characterized by significant intrauterine and postnatal growth restriction. Mutations in the CUL7 gene are known to cause 3-M syndrome. In 3-M syndrome patients that do not carry CUL7 mutations, we performed high-density genome-wide SNP mapping to identify a second locus at 2q35-q36.1. Further haplotype analysis revealed a 1.29 Mb interval in which the underlying gene is located and we subsequently discovered seven distinct null mutations from 10 families within the gene OBSL1. OBSL1 is a putative cytoskeletal adaptor protein that localizes to the nuclear envelope. We were also able to demonstrate that loss of OBSL1 leads to downregulation of CUL7, implying a role for OBSL1 in the maintenance of CUL7 protein levels and suggesting that both proteins are involved within the same molecular pathway.