title: 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: Department of Endocrinology, Manchester Academic Health Sciences Centre, School of Biomedicine, University of Manchester, UK. graeme.black@manchester.ac.uk
authors: Dan
authors: D
authors: Hanson
authors: Philip G
authors: PG
authors: Murray
authors: James
authors: J
authors: O'Sullivan
authors: Jill
authors: J
authors: Urquhart
authors: Sarah
authors: S
authors: Daly
authors: Sanjeev S
authors: SS
authors: Bhaskar
authors: Leslie G
authors: LG
authors: Biesecker
authors: Mars
authors: M
authors: Skae
authors: Claire
authors: C
authors: Smith
authors: Trevor
authors: T
authors: Cole
authors: Jeremy
authors: J
authors: Kirk
authors: Kate
authors: K
authors: Chandler
authors: Helen
authors: H
authors: Kingston
authors: Dian
authors: D
authors: Donnai
authors: Peter E
authors: PE
authors: Clayton
authors: Graeme C M
authors: GC
authors: Black
mesh_terms: D002460:Cell Line; D002675:Child, Preschool; D044842:Cullin Proteins / Q000235:genetics* / Q000378:metabolism; D003598:Cytoskeletal Proteins / Q000235:genetics* / Q000378:metabolism; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D015870:Gene Expression; D006720:Homozygote; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics*; D009154:Mutation; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013131:Spine / Q000002:abnormalities; D014157:Transcription Factors
chemical_list: C506299:CUL7 protein, human; D044842:Cullin Proteins; D003598:Cytoskeletal Proteins; C522000:OBSL1 protein, human; D014157:Transcription Factors