Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth.

Abstract

3-M syndrome, a primordial growth disorder, is associated with mutations in CUL7 and OBSL1. Exome sequencing now identifies mutations in CCDC8 as a cause of 3-M syndrome. CCDC8 is a widely expressed gene that is transcriptionally associated to CUL7 and OBSL1, and coimmunoprecipitation indicates a physical interaction between CCDC8 and OBSL1 but not CUL7. We propose that CUL7, OBSL1, and CCDC8 are members of a pathway controlling mammalian growth.

• Authors: Dan Hanson, Philip G Murray, James O'Sullivan, Jill Urquhart, Sarah Daly, Sanjeev S Bhaskar, Leslie G Biesecker, Mars Skae, Claire Smith, Trevor Cole, Jeremy Kirk, Kate Chandler, Helen Kingston, Dian Donnai, Peter E Clayton, Graeme C M Black
• Journal: American journal of human genetics (Am J Hum Genet) Vol. 89 Issue 1 Pg. 148-53 (Jul 15 2011) ISSN: 1537-6605 [Electronic] United States
• PMID: 21737058 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Chemical References

• CUL7 protein, human
• Cullin Proteins
• Cytoskeletal Proteins
• OBSL1 protein, human
• Transcription Factors

Topics

• Cell Line
• Child, Preschool
• Cullin Proteins (genetics, metabolism)
• Cytoskeletal Proteins (genetics, metabolism)
• Dwarfism (genetics)
• Female
• Gene Expression
• Homozygote
• Humans
• Infant
• Intellectual Disability (genetics)
• Male
• Muscle Hypotonia (genetics)
• Mutation
• Reverse Transcriptase Polymerase Chain Reaction
• Spine (abnormalities)
• Transcription Factors