ATP-dependent chromatin remodeling: genetics, genomics and mechanisms
By D. Hargreaves, G. Crabtree. Cell Research, 2011
908 citations recorded by the source corpus.
Macromolecular assemblies that regulate chromatin structure using the energy of ATP hydrolysis have critical roles in development, cancer, and stem cell biology. The ATPases of this family are encoded by 27 human genes and are usually associated with several other proteins that are stable, non-exchangeable subunits. One fundamental mechanism used by these complexes is thought to be the movement or exchange of nucleosomes to regulate transcription. However, recent genetic studies indicate that chromatin remodelers may also be involved in regulating other aspects of chromatin structure during many cellular processes. The SWI/SNF family in particular appears to have undergone a substantial change in subunit composition and mechanism coincident with the evolutionary advent of multicellularity and the appearance of linking histones. The differential usage of this greater diversity of mammalian BAF subunits is essential for the development of specific cell fates, including the progression from pluripotency to multipotency to committed neurons. Recent human genetic screens have revealed that BRG1, ARID1A, BAF155, and hSNF5 are frequently mutated in tumors, indicating that BAF complexes also play a critical role in the initiation or progression of cancer. The mechanistic bases underlying the genetic requirements for BAF and other chromatin remodelers in development and cancer are relatively unexplored and will be a focus of this review.
Subfields: Molecular Biology, Pathology and Forensic Medicine
View Paper: https://www.semanticscholar.org/paper/3d98e6eb8a9f853340a5262e59d43944e7e836e7
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Citations in the corpus
- Single-Cell Exome Sequencing Reveals Single-Nucleotide Mutation Characteristics of a Kidney Tumor (2012, background): “Here, we found that PBRM1, which has been reported to be recurrent in more than 20% of patients, was present at an extremely low mutant allele frequency (based on the mutant read number ratio in tissue sequencing) in this patient.”
- Durable tumor regression in genetically altered malignant rhabdoid tumors by inhibition of methyltransferase EZH2 (2013, background): “Gene expression is also regulated by remodeling of nucleosomes in an ATP-dependent manner (8).”
- Transcriptional Regulation and its Misregulation in Disease (2013, neutral): “…remodeling proteins, including ARID1A, SMARCA4 (BRG1) and SMARCB1 (INI1) are associated with multiple types of cancer (Dawson and Kouzarides, 2012; Hargreaves and Crabtree, 2011; Tsai and Baylin, 2011; Wilson and Roberts, 2011), suggesting that defects in mobilizing nucleosomes near the promoters…”
- Cancer Genetics and Epigenetics: Two Sides of the Same Coin? (2012, background): “Genes controlling the cell cycle and DNA repair, such as RB, BRCA1/2, and PTEN, have all been reported to be hypermethylated or mutated/deleted in cancer (Hatziapostolou and Iliopoulos, 2011).”