Abstract：Neural development is regulated by both external environment and internal signals, and in addition to transcription factors, epigenetic modifications also play an important role. By focusing on the genetic mechanism of ATP-dependent chromatin remodeling in children with neurodevelopmental disorders, this article elaborates on the effect of four chromatin remodeling complexes on neurogenesis and the development and maturation of neurons and neuroglial cells and introduces the clinical research advances in neurodevelopmental disorders.
CHEN Fang-Bing,ZHOU Wen-Hao. A review on the genetic mechanism of chromatin remodeling in children with neurodevelopmental disorders[J]. CJCP, 2021, 23(3): 315-318.
Ismail FY, Shapiro BK. What are neurodevelopmental disorders?[J]. Curr Opin Neurol, 2019, 32(4):611-616.
[2]
Clapier CR, Iwasa J, Cairns BR, et al. Mechanisms of action and regulation of ATP-dependent chromatin-remodelling complexes[J]. Nat Rev Mol Cell Biol, 2017, 18(7):407-422.
[3]
Mashtalir N, D'Avino AR, Michel BC, et al. Modular organization and assembly of SWI/SNF family chromatin remodeling complexes[J]. Cell, 2018, 175(5):1272-1288.e20.
[4]
Oppikofer M, Bai TY, Gan YT, et al. Expansion of the ISWI chromatin remodeler family with new active complexes[J]. EMBO Rep, 2017, 18(10):1697-1706.
[5]
Manning BJ, Yusufzai T. The ATP-dependent chromatin remodeling enzymes CHD6, CHD7, and CHD8 exhibit distinct nucleosome binding and remodeling activities[J]. J Biol Chem, 2017, 292(28):11927-11936.
[6]
Willhoft O, Wigley DB. INO80 and SWR1 complexes:the non-identical twins of chromatin remodelling[J]. Curr Opin Struct Biol, 2020, 61:50-58.
[7]
Harmacek L, Watkins-Chow DE, Chen JF, et al. A unique missense allele of BAF155, a core BAF chromatin remodeling complex protein, causes neural tube closure defects in mice[J]. Dev Neurobiol, 2014, 74(5):483-497.
[8]
Al Mutairi F, Alzahrani F, Ababneh F, et al. A mendelian form of neural tube defect caused by a de novo null variant in SMARCC1 in an identical twin[J]. Ann Neurol, 2018, 83(2):433-436.
[9]
Gandhi S, Hutchins EJ, Maruszko K, et al. Bimodal function of chromatin remodeler Hmga1 in neural crest induction and Wnt-dependent emigration[J]. Elife, 2020, 9:e57779.
[10]
Narayanan R, Pirouz M, Kerimoglu C, et al. Loss of BAF (mSWI/SNF) complexes causes global transcriptional and chromatin state changes in forebrain development[J]. Cell Rep, 2015, 13(9):1842-1854.
[11]
Keil JM, Doyle DZ, Qalieh A, et al. Symmetric neural progenitor divisions require chromatin-mediated homologous recombination DNA repair by Ino80[J]. Nat Commun, 2020, 11(1):3839.
[12]
Alfert A, Moreno N, Kerl K. The BAF complex in development and disease[J]. Epigenetics Chromatin, 2019, 12(1):19.
[13]
Nitarska J, Smith JG, Sherlock WT, et al. A functional switch of NuRD chromatin remodeling complex subunits regulates mouse cortical development[J]. Cell Rep, 2016, 17(6):1683-1698.
[14]
Whittaker DE, Riegman KL, Kasah S, et al. The chromatin remodeling factor CHD7 controls cerebellar development by regulating reelin expression[J]. J Clin Invest, 2017, 127(3):874-887.
[15]
Platt RJ, Zhou Y, Slaymaker IM, et al. Chd8 mutation leads to autistic-like behaviors and impaired striatal circuits[J]. Cell Rep, 2017, 19(2):335-350.
[16]
Nguyen H, Kerimoglu C, Pirouz M, et al. Epigenetic regulation by BAF complexes limits neural stem cell proliferation by suppressing Wnt signaling in late embryonic development[J]. Stem Cell Reports, 2018, 10(6):1734-1750.
[17]
Zhan XM, Shi XM, Zhang ZL, et al. Dual role of Brg chromatin remodeling factor in Sonic hedgehog signaling during neural development[J]. Proc Natl Acad Sci U S A, 2011, 108(31):12758-12763.
[18]
Alvarez-Saavedra M, Yan KQ, De Repentigny Y, et al. Snf2h drives chromatin remodeling to prime upper layer cortical neuron development[J]. Front Mol Neurosci, 2019, 12:243.
[19]
Shen TJ, Ji F, Yuan ZQ, et al. CHD2 is required for embryonic neurogenesis in the developing cerebral cortex[J]. Stem Cells, 2015, 33(6):1794-1806.
[20]
Egan CM, Nyman U, Skotte J, et al. CHD5 is required for neurogenesis and has a dual role in facilitating gene expression and polycomb gene repression[J]. Dev Cell, 2013, 26(3):223-236.
[21]
Feng WJ, Kawauchi D, Körkel-Qu H, et al. Chd7 is indispensable for mammalian brain development through activation of a neuronal differentiation programme[J]. Nat Commun, 2017, 8:14758.
[22]
Xu Q, Liu YY, Wang XM, et al. Autism-associated CHD8 deficiency impairs axon development and migration of cortical neurons[J]. Mol Autism, 2018, 9:65.
[23]
Wu JI, Lessard J, Olave IA, et al. Regulation of dendritic development by neuron-specific chromatin remodeling complexes[J]. Neuron, 2007, 56(1):94-108.
[24]
Yoo M, Choi KY, Kim J, et al. BAF53b, a neuron-specific nucleosome remodeling factor, is induced after learning and facilitates long-term memory consolidation[J]. J Neurosci, 2017, 37(13):3686-3697.
[25]
Bell S, Rousseau J, Peng HS, et al. Mutations in ACTL6B cause neurodevelopmental deficits and epilepsy and lead to loss of dendrites in human neurons[J]. Am J Hum Genet, 2019, 104(5):815-834.
[26]
Ahn LY, Coatti GC, Liu JY, et al. An epilepsy-associated ACTL6B variant captures neuronal hyperexcitability in a human induced pluripotent stem cell model[J]. J Neurosci Res, 2021, 99(1):110-123.
[27]
Zhang ZL, Cao M, Chang CW, et al. Autism-associated chromatin regulator Brg1/SmarcA4 is required for synapse development and myocyte enhancer factor 2-mediated synapse remodeling[J]. Mol Cell Biol, 2016, 36(1):70-83.
[28]
Yang Y, Yamada T, Hill KK, et al. Chromatin remodeling inactivates activity genes and regulates neural coding[J]. Science, 2016, 353(6296):300-305.
[29]
Yu Y, Chen Y, Kim B, et al. Olig2 targets chromatin remodelers to enhancers to initiate oligodendrocyte differentiation[J]. Cell, 2013, 152(1/2):248-261.
[30]
Marie C, Clavairoly A, Frah M, et al. Oligodendrocyte precursor survival and differentiation requires chromatin remodeling by Chd7 and Chd8[J]. Proc Natl Acad Sci U S A, 2018, 115(35):E8246-E8255.
[31]
Zhao CT, Dong C, Frah M, et al. Dual requirement of CHD8 for chromatin landscape establishment and histone methyltransferase recruitment to promote CNS myelination and repair[J]. Dev Cell, 2018, 45(6):753-768.e8.
[32]
Elsesser O, Fröb F, Küspert M, et al. Chromatin remodeler Ep400 ensures oligodendrocyte survival and is required for myelination in the vertebrate central nervous system[J]. Nucleic Acids Res, 2019, 47(12):6208-6224.
[33]
Filatova A, Rey LK, Lechler MB, et al. Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects[J]. Nat Commun, 2019, 10(1):2966.
[34]
Lopes F, Barbosa M, Ameur A, et al. Identification of novel genetic causes of Rett syndrome-like phenotypes[J]. J Med Genet, 2016, 53(3):190-199.
[35]
Homann OR, Misura K, Lamas E, et al. Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness[J]. Mol Psychiatry, 2016, 21(12):1690-1695.
[36]
Fusco C, Micale L, Augello B, et al. Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits[J]. Eur J Hum Genet, 2014, 22(1):64-70.
[37]
Elliott J, Norton KA, Niri FH, et al. Reported DNA repair protein CECR2, which is associated with neural tube defects in mice, is not required for double-strand break repair in primary neurospheres[J]. DNA Repair (Amst), 2020, 94:102876.
[38]
Coe BP, Stessman HAF, Sulovari A, et al. Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity[J]. Nat Genet, 2019, 51(1):106-116.
[39]
Snijders Blok L, Rousseau J, Twist J, et al. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language[J]. Nat Commun, 2018, 9(1):4619.
[40]
Weiss K, Terhal PA, Cohen L, et al. De novo mutations in CHD4, an ATP-dependent chromatin remodeler gene, cause an intellectual disability syndrome with distinctive dysmorphisms[J]. Am J Hum Genet, 2016, 99(4):934-941.
[41]
Kim YJ, Khoshkhoo S, Frankowski JC, et al. Chd2 is necessary for neural circuit development and long-term memory[J]. Neuron, 2018, 100(5):1180-1193.e6.
