Activating and Inactivating Mutations in the GNAS1 Gene

Micheala A Aldred, University of Leicester, Leicester, UK
Richard C Trembath, University of Leicester, Leicester, UK

Published online: January 2006

DOI: 10.1038/npg.els.0006023

GNAS is a complex locus encoding multiple overlapping transcripts. Several human diseases are caused by activating or inactivating mutations, or by abnormal methylation at this locus.

Keywords: G protein; mutation; imprinting; oncogene; Gs

 References
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 Further Reading
    Aldred MA and Trembath RC (2000) Activating and inactivating mutations in the human GNAS1 gene. Human Mutation 16: 183–189.
    Jüppner H (2002) The genetic basis of progressive osseous heteroplasia. New England Journal of Medicine 346: 128–130.
    Kaplan FS and Shore EM (2000) Progressive osseous heteroplasia. Journal of Bone and Mineral Research 15: 2084–2094.
    Levine MA (1999) Clinical implications of genetic defects in G proteins: oncogenic mutation in G alpha-s as the molecular basis for the McCune–Albright syndrome. Archives of Medical Research 30: 522–531.
    Weinstein LS, Yu S, Warner DR and Liu J (2001) Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting. Endocrine Reviews 22: 675–705.
    Wilson LC and Trembath RC (1994) Albright's hereditary osteodystrophy. Journal of Medical Genetics 31: 779–784.
 Web Links
    ePath GNAS complex locus (GNAS); Locus ID: 2778. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=2778
    ePath GNAS complex locus (GNAS); MIM number: 139320. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?139320

Related Sub-Topics:

Signal Transduction | Transcription | Molecular Genetics of Common and Complex Disease | Specific Genetic Disorders | Mutational Mechanisms of Genetic Disease | Gene and Genome Structure and Organisation | Transcriptional Regulation | Chromosomes and Chromatin Modifications
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Article Title: Activating and Inactivating Mutations in the GNAS1 Gene
 
How to Cite close
Aldred, Micheala A, and Trembath, Richard C(Jan 2006) Activating and Inactivating Mutations in the GNAS1 Gene. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0006023]