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

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

doi:10.1016/j.ajhg.2011.05.028

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

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

Research output: Contribution to journal › Article › peer-review

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. © 2011 by The American Society of Human Genetics. All rights reserved.

Original language	English
Pages (from-to)	148-153
Number of pages	5
Journal	American Journal of Human Genetics
Volume	89
Issue number	1
DOIs	https://doi.org/10.1016/j.ajhg.2011.05.028
Publication status	Published - 15 Jul 2011

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10.1016/j.ajhg.2011.05.028

Defining the phenotype of severe growth disorders, discovering new genes that control human growth and enhancing clinical practice
Clayton, P. (Participant), Black, G. (Participant), Read, A. (Participant), Manson, F. (Participant), Hanson, D. (Participant) & Patel, L. (Participant)
Impact: Health impacts

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Hanson, D., Murray, P. G., O'Sullivan, J., Urquhart, J., Daly, S., Bhaskar, S. S., Biesecker, L. G., Skae, M., Smith, C., Cole, T., Kirk, J., Chandler, K., Kingston, H., Donnai, D., Clayton, P. E., & Black, G. C. M. (2011). Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth. American Journal of Human Genetics, 89(1), 148-153. https://doi.org/10.1016/j.ajhg.2011.05.028

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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. {\textcopyright} 2011 by The American Society of Human Genetics. All rights reserved.",

author = "Dan Hanson and Murray, \{Philip G.\} and James O'Sullivan and Jill Urquhart and Sarah Daly and Bhaskar, \{Sanjeev S.\} and Biesecker, \{Leslie G.\} and Mars Skae and Claire Smith and Trevor Cole and Jeremy Kirk and Kate Chandler and Helen Kingston and Dian Donnai and Clayton, \{Peter E.\} and Black, \{Graeme C M\}",

note = ", Medical Research Council, United Kingdom",

year = "2011",

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doi = "10.1016/j.ajhg.2011.05.028",

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Hanson, D, Murray, PG, O'Sullivan, J, Urquhart, J, Daly, S, Bhaskar, SS, Biesecker, LG, Skae, M, Smith, C, Cole, T, Kirk, J, Chandler, K, Kingston, H, Donnai, D, Clayton, PE & Black, GCM 2011, 'Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth', American Journal of Human Genetics, vol. 89, no. 1, pp. 148-153. https://doi.org/10.1016/j.ajhg.2011.05.028

TY - JOUR

T1 - Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth

AU - Hanson, Dan

AU - Murray, Philip G.

AU - O'Sullivan, James

AU - Urquhart, Jill

AU - Daly, Sarah

AU - Bhaskar, Sanjeev S.

AU - Biesecker, Leslie G.

AU - Skae, Mars

AU - Smith, Claire

AU - Cole, Trevor

AU - Kirk, Jeremy

AU - Chandler, Kate

AU - Kingston, Helen

AU - Donnai, Dian

AU - Clayton, Peter E.

AU - Black, Graeme C M

N1 - , Medical Research Council, United Kingdom

PY - 2011/7/15

Y1 - 2011/7/15

N2 - 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. © 2011 by The American Society of Human Genetics. All rights reserved.

AB - 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. © 2011 by The American Society of Human Genetics. All rights reserved.

U2 - 10.1016/j.ajhg.2011.05.028

DO - 10.1016/j.ajhg.2011.05.028

M3 - Article

C2 - 21737058

SN - 0002-9297

VL - 89

SP - 148

EP - 153

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 1

ER -

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

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Impacts

Defining the phenotype of severe growth disorders, discovering new genes that control human growth and enhancing clinical practice

Cite this