| The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1. | |
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MedLine Citation:
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PMID: 19481195 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Dan Hanson; Philip G Murray; Amit Sud; Samia A Temtamy; Mona Aglan; Andrea Superti-Furga; Sue E Holder; Jill Urquhart; Emma Hilton; Forbes D C Manson; Peter Scambler; Graeme C M Black; Peter E Clayton |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2009-05-28 |
Journal Detail:
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Title: American journal of human genetics Volume: 84 ISSN: 1537-6605 ISO Abbreviation: Am. J. Hum. Genet. Publication Date: 2009 Jun |
Date Detail:
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Created Date: 2009-06-12 Completed Date: 2009-07-02 Revised Date: 2010-09-24 |
Medline Journal Info:
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Nlm Unique ID: 0370475 Medline TA: Am J Hum Genet Country: United States |
Other Details:
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Languages: eng Pagination: 801-6 Citation Subset: IM |
Affiliation:
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Endocrine Sciences, Faculty of Medical & Human Sciences, University of Manchester, Manchester, UK. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Cells, Cultured Child Child, Preschool Cullin Proteins / genetics Cytoskeletal Proteins / antagonists & inhibitors, genetics*, metabolism Cytoskeleton Female Growth Disorders / genetics* Humans Infant Kidney / cytology, metabolism Male Mutation / genetics* Oligonucleotide Array Sequence Analysis Pedigree Polymorphism, Single Nucleotide / genetics* RNA, Small Interfering / pharmacology Syndrome Ubiquitination* |
| Chemical | |
Reg. No./Substance:
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0/CUL7 protein, human; 0/Cullin Proteins; 0/Cytoskeletal Proteins; 0/OBSL1 protein, human; 0/RNA, Small Interfering |
| Comments/Corrections | |
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