Document Detail


The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.
MedLine Citation:
PMID:  19481195     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
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
Related Documents :
8123575 - Melanotic macules following blaschko's lines in mccune-albright syndrome.
20674935 - Adult or late-onset triple a syndrome: case report and literature review.
20535495 - Analysis of the chn1 gene in patients with various types of congenital ocular motility ...
12793205 - Craniofacial development: the tissue and molecular interactions that control developmen...
9879795 - Cannabinoids: possible role in patho-physiology and therapy of gilles de la tourette sy...
23744515 - Second-trimester prenasal and prefrontal skin thickening-association with mecp2 triplic...
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2009-05-28
Journal Detail:
Title:  American journal of human genetics     Volume:  84     ISSN:  1537-6605     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  2009 Jun 
Date Detail:
Created Date:  2009-06-12     Completed Date:  2009-07-02     Revised Date:  2014-02-19    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  801-6     Citation Subset:  IM    
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
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*
Grant Support
ID/Acronym/Agency:
G0700541//Medical Research Council; G9901217//Medical Research Council
Chemical
Reg. No./Substance:
0/CUL7 protein, human; 0/Cullin Proteins; 0/Cytoskeletal Proteins; 0/OBSL1 protein, human; 0/RNA, Small Interfering
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and...
Next Document:  X chromosome inactivation is initiated in human preimplantation embryos.