Architects of the genome: CHD dysfunction in cancer, developmental disorders and neurological syndromes

Abstract

Chromatin is vital to normal cells, and its deregulation contributes to a spectrum of human ailments. An emerging concept is that aberrant chromatin regulation culminates in gene expression programs that set the stage for the seemingly diverse pathologies of cancer, developmental disorders and neurological syndromes. However, the mechanisms responsible for such common etiology have been elusive. Recent evidence has implicated lesions affecting chromatin-remodeling proteins in cancer, developmental disorders and neurological syndromes, suggesting a common source for these different pathologies. Here, we focus on the chromodomain helicase DNA binding chromatin-remodeling family and the recent evidence for its deregulation in diverse pathological conditions, providing a new perspective on the underlying mechanisms and their implications for these prevalent human diseases.

Keywords::

• cancer
• CHD proteins
• chromatin remodeling
• copy number variation
• developmental disorders
• DNA damage
• male infertility
• mutation
• neurological syndromes

Financial & competing interests disclosure

Work discussed in this review was supported in part by NIH awards R01CA190997 and R21OD018332 to AAM. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of this manuscript.

Additional information

Funding

Work discussed in this review was supported in part by NIH awards R01CA190997 and R21OD018332 to AAM. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed. No writing assistance was utilized in the production of this manuscript.