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Trends Biochem Sci. 2015 Jun;40(6):309-17. doi: 10.1016/j.tibs.2015.03.011. Epub 2015 Apr 27.

Gene dosage imbalances: action, reaction, and models.

Author information

1
Institut Jacques Monod, Paris, France; Université Paris Diderot, Paris, France. Electronic address: veitia.reiner@ijm.univ-paris-diderot.fr.
2
Sorbonne Universités, Université Pierre et Marie Curie (UPMC), Université Paris 06, Institut National de la Santé et de la Recherche Médicale (INSERM) and Centre National de la Recherche Scientifique (CNRS) Unités de Recherche U75, U1127, U7225, and Institut du Cerveau et de la Moelle Épinière (ICM), 75013 Paris, France.

Abstract

Single-gene deletions, duplications, and misregulation, as well as aneuploidy, can lead to stoichiometric imbalances within macromolecular complexes and cellular networks, causing their malfunction. Such alterations can be responsible for inherited or somatic genetic disorders including Mendelian diseases, aneuploid syndromes, and cancer. We review the effects of gene dosage alterations at the transcriptomic and proteomic levels, and the various responses of the cell to counteract their effects. Furthermore, we explore several biochemical models and ideas that can provide the rationale for treatments modulating the effects of gene dosage imbalances.

KEYWORDS:

aneuploidy; buffering; compensation; deletion; dosage balance; duplication

PMID:
25937627
DOI:
10.1016/j.tibs.2015.03.011
[Indexed for MEDLINE]
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