The role of BAF (mSWI/SNF) complexes in mammalian neural development

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 166, Issue 3, 2014, Pages 333-349

  Son, Esther Y ^a   Crabtree, Gerald R ^a,b  

^a STANFORD UNIVERSITY   (United States)

^b STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Autism; BAF; Chromatin remodeling; Coffin siris syndrome; Intellectual disability; Mammalian SWI SNF; MicroRNA; Neural development; Nicolaides Baraitser syndrome; Schizophrenia

Indexed keywords

ADENOSINE TRIPHOSPHATE; BAF COMPLEX; MICRORNA; PROTEIN SWI; TRANSCRIPTION FACTOR SNF; UNCLASSIFIED DRUG; ACTIN; ACTL6A PROTEIN, HUMAN; ARID1A PROTEIN, HUMAN; ARID1B PROTEIN, HUMAN; DNA BINDING PROTEIN; DROSOPHILA PROTEIN; MULTIPROTEIN COMPLEX; NONHISTONE PROTEIN; NUCLEAR PROTEIN; STAT3 PROTEIN; STAT3 PROTEIN, MOUSE; TRANSCRIPTION FACTOR;

ARTICLE; CELL DIVISION; CELL FATE; CELL MATURATION; CHROMATIN STRUCTURE; DEVELOPMENTAL STAGE; EMBRYONIC STEM CELL; FIBROBLAST; GENE MUTATION; HOMEOSTASIS; HUMAN; MAMMAL; MEMORY; MITOSIS; NERVE CELL DIFFERENTIATION; NERVE CELL PLASTICITY; NEURAL STEM CELL; NONHUMAN; PHENOTYPE; PROTEIN ASSEMBLY; PROTEIN FAMILY; ABNORMALITIES; ANIMAL; AUTISM; CHROMATIN ASSEMBLY AND DISASSEMBLY; DENDRITE; FACE; GENETICS; HAND MALFORMATION; INTELLECTUAL IMPAIRMENT; METABOLISM; MICROGNATHIA; MOLECULAR EVOLUTION; MOUSE; MULTIPLE MALFORMATION SYNDROME; NECK; NERVE CELL; NERVOUS SYSTEM DEVELOPMENT; PHYSIOLOGY; SCHIZOPHRENIA; STEM CELL; YEAST;

MAMMALIA;

ABNORMALITIES, MULTIPLE; ACTINS; ANIMALS; CHILD DEVELOPMENT DISORDERS, PERVASIVE; CHROMATIN ASSEMBLY AND DISASSEMBLY; CHROMOSOMAL PROTEINS, NON-HISTONE; DENDRITES; DNA-BINDING PROTEINS; DROSOPHILA PROTEINS; EVOLUTION, MOLECULAR; FACE; HAND DEFORMITIES, CONGENITAL; HUMANS; INTELLECTUAL DISABILITY; MAMMALS; MEMORY; MICE; MICROGNATHISM; MULTIPROTEIN COMPLEXES; NECK; NEUROGENESIS; NEURONS; NUCLEAR PROTEINS; SCHIZOPHRENIA; STAT3 TRANSCRIPTION FACTOR; STEM CELLS; TRANSCRIPTION FACTORS; YEASTS;

EID: 84908690018     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31416     Document Type: Article

References (178)

1. Aboitiz F, Morales D, Montiel J. 2003. The evolutionary origin of the mammalian isocortex: Towards an integrated developmental and functional approach. Behav Brain Sci. 26:535-552 discussion 552-585.
2. Ahlenius H, Visan V, Kokaia M, Lindvall O, Kokaia Z. 2009. Neural stem and progenitor cells retain their potential for proliferation and differentiation into functional neurons despite lower number in aged brain. J Neurosci 29:4408-4419.
3. Aizawa H, Hu SC, Bobb K, Balakrishnan K, Ince G, Gurevich I, Cowan M, Ghosh A. 2004. Dendrite development regulated by CREST, a calcium-regulated transcriptional activator. Science 303:197-202.
4. Alarcón JM, Malleret G, Touzani K, Vronskaya S, Ishii S, Kandel ER, Barco A. 2004. Chromatin acetylation, memory, and LTP are impaired in CBP{thorn}/-mice: A model for the cognitive deficit in Rubinstein-Taybi syndrome and its amelioration. Neuron 42:947-959.
5. Albu DI, Feng D, Bhattacharya D, Jenkins NA, Copeland NG, Liu P, Avram D. 2007. BCL11B is required for positive selection and survival of double-positive thymocytes. J Exp Med 204:3003-3015.
6. Albu DI, VanValkenburgh J, Morin N, Califano D, Jenkins NA, Copeland NG, Liu P, Avram D. 2011. Transcription factor Bcl11b controls selection of invariant natural killer T-cells by regulating glycolipid presentation in doublepositive thymocytes. Proc Natl Acad Sci USA 108:6211-6216.
7. Arlotta P, Molyneaux BJ, Chen J, Inoue J, Kominami R, MacKlis JD. 2005. Neuronal subtype-specific genes that control corticospinal motor neuron development in vivo. Neuron 45:207-221.
8. Arlotta P, Molyneaux BJ, Jabaudon D, Yoshida Y, Macklis JD. 2008. Ctip2 controls the differentiation of medium spiny neurons and the establishment of the cellular architecture of the striatum. J Neurosci 28: 622-632.
9. Backx L, Seuntjens E, Devriendt K, Vermeesch J, Van Esch H. 2011. A balanced translocation t (6;14) (q25.3;q13.2) leading to reciprocal fusion transcripts in a patient with intellectual disability and agenesis of corpus callosum. Cytogenet Genome Res 132:135-143.
10. Ballas N, Grunseich C, Lu DD, Speh JC, Mandel G. 2005. REST and its corepressors mediate plasticity of neuronal gene chromatin throughout neurogenesis. Cell 121:645-657.
11. Barker N, Hurlstone A, Musisi H, Miles A, Bienz M, Clevers H. 2001. The chromatin remodelling factor Brg-1 interacts with betacatenin to promote target gene activation. EMBO J 20:4935-4943.
12. Battaglioli E, Andrés ME, Rose DW, Chenoweth JG, Rosenfeld MG, Anderson ME, Mandel G. 2002. RESTrepression of neuronal genes requires components of the hSWI. SNF complex. J Biol Chem 277:41038-41045.
13. Bernstein BE, Meissner A, Lander ES. 2007. The mammalian epigenome. Cell 128:669-681.
14. Biegel JA, Kalpana G, Knudsen ES, Tumors TR, Kalpana G, Packer RJ, Roberts CWM, Thiele CJ, Weissman B, Smith M. 2002. The Role of INI1 and the SWI/SNF complex in the development of rhabdoid tumors: Meeting summary from the workshop on childhood atypical teratoid/rhabdoid tumors. Cancer Res 62:323-328.
15. Boyer LA, Lee TI, Cole MF, Johnstone SE, Levine SS, Zucker JP, Guenther MG, Kumar RM, Murray HL, Jenner RG, Gifford DK, Melton DA, Jaenisch R, Young RA. 2005. Core transcriptional regulatory circuitry in human embryonic stem cells. Cell 122:947-956.
16. de Bruijn DR, Allander SV, van Dijk AH, Willemse MP, Thijssen J, van Groningen JJ, Meltzer PS, van Kessel AG. 2006. The synovial-sarcoma-associated SS18-SSX2 fusion protein induces epigenetic gene (de) regulation. Cancer Res 66:9474-9482.
17. Bultman S, Gebuhr T, Yee D, La Mantia C, Nicholson J, Gilliam A, Randazzo F, Metzger D, Chambon P, Crabtree G, Magnuson T. 2000. A Brg1 null mutation in the mouse reveals functional differences among mammalian SWI/SNF complexes. Mol Cell 6:1287-1295.
18. Cairns BR, Kim YJ, Sayre MH, Laurent BC, Kornberg RD. 1994. A multisubunit complex containing the SWI1/ADR6, SWI2/SNF2, SWI3, SNF5, and SNF6 gene products isolated from yeast. Proc Natl Acad Sci USA 91:1950-1954.
19. Cao X, PfaffSL, Gage FH. 2007. A functional study of miR-124 in the developing neural tube. Genes Dev 21:531-536.
20. Chen ZF, Paquette AJ, Anderson DJ. 1998. NRSF/REST is required in vivo for repression of multiple neuronal target genes during embryogenesis. Nat Genet 20:136-142.
21. Chenn A, McConnell SK. 1995. Cleavage orientation and the asymmetric inheritance of Notch1 immunoreactivity in mammalian neurogenesis. Cell 82:631-641.
22. Chesi A, Staahl BT, Jovičić A, Couthouis J, Fasolino M, Raphael AR, Yamazaki T, Elias L, Polak M, Kelly C, Williams KL, Fifita JA, Maragakis NJ, Nicholson GA, King OD, Reed R, Crabtree GR, Blair IP, Glass JD, Gitler AD. 2013. Exome sequencing to identify de novo mutations in sporadic ALS trios. Nat Neurosci 16:851-855.
23. Chiang C, Litingtung Y, Lee E, Young KE, Corden JL, Westphal H, Beachy PA. 1996. Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function. Nature 383:407-413.
24. Chong JA, Tapia-Ramírez J, Kim S, Toledo-Aral JJ, Zheng Y, Boutros MC, Altshuller YM, Frohman MA, Kraner SD, Mandel G. 1995. REST: A mammalian silencer protein that restricts sodium channel gene expression to neurons. Cell 80:949-957.
25. Cohen-Armon M, Visochek L, KatzoffA, Levitan D, Susswein AJ, Klein R, Valbrun M, Schwartz JH. 2004. Long-term memory requires polyADP-ribosylation. Science 304: 1820-1822.
26. Conaco C, Otto S, Han JJ, Mandel G. 2006. Reciprocal actions of REST and a micro-RNA promote neuronal identity. Proc Natl Acad Sci USA 103:2422-2427.
27. Cvekl A, Duncan MK. 2007. Genetic and epigenetic mechanisms of gene regulation during lens development. Prog Retin Eye Res 26:555-597.
28. Davis RL, Weintraub H, Lassar AB. 1987. Expression of a single transfected cDNA converts fibroblasts to myoblasts. Cell 51: 987-1000.
29. Dorschner MO, Hawrylycz M, Humbert R, Wallace JC, Shafer A, Kawamoto J, Mack J, Hall R, Goldy J, Sabo PJ, Kohli A, Li Q, McArthur M, Stamatoyannopoulos JA. 2004. High-throughput localization of functional elements by quantitative chromatin profiling. Nat Methods 1:219-225.
30. Dulac C, Axel R. 1995. A novel family of genes encoding putative pheromone receptors in mammals. Cell 83:195-206.
31. Elfring LK, Deuring R, McCallum CM, Peterson CL, Tamkun JW. 1994. Identification and characterization of Drosophila relatives of the yeast transcriptional activator SNF2/SWI2. Mol Cell Biol 14:2225-2234.
32. Engert F, Bonhoeffer T. 1999. Dendritic spine changes associated with hippocampal longterm synaptic plasticity. Nature 399:66-70.
33. Enomoto T, Ohmoto M, Iwata T, Uno A, Saitou M, Yamaguchi T, Kominami R, Matsumoto I, Hirota J. 2011. Bcl11b/Ctip2 controls the differentiation of vomeronasal sensory neurons in mice. J Neurosci 31:10159-10173.
34. Eroglu E, Burkard TR, Jiang Y, Saini N, Homem CC, Reichert H, Knoblich JA. 2014. SWI/SNF complex prevents lineage reversion and induces temporal patterning in neural stem cells. Cell 156:1259-1273.
35. Estivill-Torrus G, Pearson H, van Heyningen V, Price DJ, Rashbass P. 2002. Pax6 is required to regulate the cell cycle and the rate of progression from symmetrical to asymmetrical division in mammalian cortical progenitors. Development 129:455-466.
36. Fietz Sa, Kelava I, Vogt J, Wilsch-Bräuninger M, Stenzel D, Fish JL, Corbeil D, Riehn A, Distler W, Nitsch R, Huttner WB. 2010. OSVZ progenitors of human and ferret neocortex are epithelial-like and expand by integrin signaling. Nat Neurosci 13:690-699.
37. Gibson WT, Hood RL, Zhan SH, Bulman DE, Fejes AP, Moore R, Mungall AJ, Eydoux P, Babul-Hirji R, An J, Marra MA; FORGE Canada Consortium, Chitayat D, Boycott KM, Weaver DD, Jones SJ. 2012. Mutations in EZH2 cause Weaver syndrome. Am J Hum Genet 90:110-118.
38. Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, Wood S, Zhang H, Estes A, Brune CW, Bradfield JP, Imielinski M, Frackelton EC, Reichert J, Crawford EL, Munson J, Sleiman PM, Chiavacci R, Annaiah K, Thomas K, Hou C, Glaberson W, Flory J, Otieno F, Garris M, Soorya L, Klei L, Piven J, Meyer KJ, Anagnostou E, Sakurai T, Game RM, Rudd DS, Zurawiecki D, McDougle CJ, Davis LK, Miller J, Posey DJ, Michaels S, Kolevzon A, Silverman JM, Bernier R, Levy SE, Schultz RT, Dawson G, Owley T, McMahon WM, Wassink TH, Sweeney JA, Nurnberger JI, Coon H, Sutcliffe JS, Minshew NJ, Grant SF, Bucan M, Cook EH, Buxbaum JD, Devlin B, Schellenberg GD, Hakonarson H. 2009. Autism genomewide copy number variation reveals ubiquitin and neuronal genes. Nature 459: 569-573.
39. Glickstein M, May JG, Mercier BE. 1985. Corticopontine projection in the macaque: The distribution of labelled cortical cells after large injections of horseradish peroxidase in the pontine nuclei. J Comp Neurol 235: 343-359.
40. Golonzhka O, Metzger D, Bornert JM, Bay BK, Gross MK, Kioussi C, Leid M. 2009. Ctip2/Bcl11b controls ameloblast formation during mammalian odontogenesis. Proc Natl Acad Sci USA 106:4278-4283.
41. Götz M, Huttner WB. 2005. The cell biology of neurogenesis. Nat Rev Mol Cell Biol 6:777-788.
42. Grimes JA, Nielsen SJ, Battaglioli E, Miska EA, Speh JC, Berry DL, Atouf F, Holdener BC, Mandel G, Kouzarides T. 2000. The corepressor mSin3A is a functional component of the REST-CoREST repressor complex. J Biol Chem 275:9461-9467.
43. Guilmatre A, Dubourg C, Mosca AL, Legallic S, Goldenberg A, Drouin-Garraud V, Layet V, Rosier A, Briault S, Bonnet-Brilhault F, Laumonnier F, Odent S, Le Vacon G, Joly-Helas G, David V, Bendavid C, Pinoit JM, Henry C, Impallomeni C, Germano E, Tortorella G, Di Rosa G, Barthelemy C, Andres C, Faivre L, Frébourg T, Saugier Veber P, Campion D, 2009. Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. Arch Gen Psychiatry 66:947-956.
44. Halgren C, Kjaergaard S, Bak M, Hansen C, El-Schich Z, Anderson CM, Henriksen KF, Hjalgrim H, KirchhoffM, Bijlsma EK, Nielsen M, den Hollander NS, Ruivenkamp CA, Isidor B, Le Caignec C, Zannolli R, Mucciolo M, Renieri A, Mari F, Anderlid BM, Andrieux J, Dieux A, Tommerup N, Bache I. 2012. Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B. Clin Genet 82:248-255.
45. Hansen DV, Lui JH, Parker PR, Kriegstein AR. 2010. Neurogenic radial glia in the outer subventricular zone of human neocortex. Nature 464:554-561.
46. Hargreaves DC, Crabtree GR. 2011. ATPdependent chromatin remodeling: genetics, genomics and mechanisms. Cell Res 21: 396-420.
47. Hendelman WJ. 1991. Neocortical Development. J Psychiatry Neurosci 16:233.
48. Herrada G, Dulac C. 1997. A novel family of putative pheromone receptors in mammals with a topographically organized and sexually dimorphic distribution. Cell 90:763-773.
49. Hirabayashi Y, Suzki N, Tsuboi M, Endo TA, Toyoda T, Shinga J, Koseki H, Vidal M, Gotoh Y. 2009. Polycomb limits the neurogenic competence of neural precursor cells to promote astrogenic fate transition. Neuron 63:600-613.
50. Hirschhorn JN, Brown SA, Clark CD, Winston F. 1992. Evidence that SNF2/SWI2 and SNF5 activate transcription in yeast by altering chromatin structure. Genes Dev 6:2288-2298.
51. Ho L, Jothi R, Ronan JL, Cui K, Zhao K, Crabtree GR. 2009a. An embryonic stem cell chromatin remodeling complex, esBAF, is an essential component of the core pluripotency transcriptional network. Proc Natl Acad Sci USA 106:5187-5191.
52. Ho L, Miller EL, Ronan JL, Ho WQ, Jothi R, Crabtree GR. 2011. esBAF facilitates pluripotency by conditioning the genome for LIF/STAT3 signalling and by regulating polycomb function. Nat Cell Biol 13:903-913.
53. Ho L, Ronan JL, Wu J, Staahl BT, Chen L, Kuo A, Lessard J, Nesvizhskii AI, Ranish J, Crabtree GR. 2009b. An embryonic stem cell chromatin remodeling complex, esBAF, is essential for embryonic stem cell self-renewal and pluripotency. Proc Natl Acad Sci USA 106:5181-5186.
54. Hopkin RJ, Schorry E, Bofinger M, Milatovich A, Stern HJ, Jayne C, Saal HM. 1997. New insights into the phenotypes of 6q deletions. Am J Med Genet 70:377-386.
55. Van Houdt JK, Nowakowska BA, Sousa SB, van Schaik BD, Seuntjens E, Avonce N, Sifrim A, Abdul-Rahman OA, van den Boogaard MJ, Bottani A, Castori M, Cormier-Daire V, DeardorffMA, Filges I, Fryer A, Fryns JP, Gana S, Garavelli L, Gillessen-Kaesbach G, Hall BD, Horn D, Huylebroeck D, Klapecki J, Krajewska-Walasek M, Kuechler A, Lines MA, Maas S, Macdermot KD, McKee S, Magee A, de Man SA, Moreau Y, Morice-Picard F, Obersztyn E, Pilch J, Rosser E, Shannon N, Stolte-Dijkstra I, Van Dijck P, Vilain C, Vogels A, Wakeling E, Wieczorek D, Wilson L, Zuffardi O, van Kampen AH, Devriendt K, Hennekam R, Vermeesch JR. 2012. Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nat Genet 44:445-449S1.
56. Hoyer J, Ekici AB, Endele S, Popp B, Zweier C, Wiesener A, Wohlleber E, Dufke A, Rossier E, Petsch C, Zweier M, Göhring I, Zink AM, Rappold G, Schröck E, Wieczorek D, Riess O, Engels H, Rauch A, Reis A. 2012. Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. Am J Hum Genet 90:565-572.
57. Ikawa T, Hirose S, Masuda K, Kakugawa K, Satoh R, Shibano-Satoh A, Kominami R, Katsura Y, Kawamoto H. 2010. An essential developmental checkpoint for production of the T cell lineage. Science 329:93-96.
58. Jan YN, Jan LY. 2003. The control of dendrite development. Neuron 40:229-242.
59. Kadoch C, Crabtree GR. 2013. Reversible disruption of mSWI/SNF (BAF) complexes by the SS18-SSX oncogenic fusion in synovial sarcoma. Cell 153:71-85.
60. Kadoch C, Hargreaves DC, Hodges C, Elias L, Ho L, Ranish J, Crabtree GR. 2013. Proteomic and bioinformatic analysis of mammalian SWI/SNF complexes identifies extensive roles in human malignancy. Nat Genet 45: 592-601.
61. Kaeser MD, Aslanian A, Dong MQ, Yates JR, Emerson BM. 2008. BRD7, a novel PBAFspecific SWI/SNF subunit, is required for target gene activation and repression in embryonic stem cells. J Biol Chem 283: 32254-32263.
62. Kandel ER. 2012. The molecular biology of memory: cAMP, PKA, CRE, CREB-1, CREB-2, and CPEB. Mol Brain 5:14.
63. Kennison JA, Tamkun JW. 1988. Dosage-dependent modifiers of polycomb and antennapedia mutations in Drosophila. Proc Natl Acad Sci USA 85:8136-8140.
64. Kidder BL, Palmer S, Knott JG. 2009. SWI/SNFBrg1 regulates self-renewal and occupies core pluripotency-related genes in embryonic stem cells. Stem Cells 27:317-328.
65. Killackey HP, Koralek KA, Chiaia NL, Rhodes RW. 1989. Laminar and areal differences in the origin of the subcortical projection neurons of the rat somatosensory cortex. J Comp Neurol 282:428-445.
66. Kim JK, Huh SO, Choi H, Lee KS, Shin D, Lee C, Nam JS, Kim H, Chung H, Lee HW, Park SD, Seong RH. 2001. Srg3, a mouse homolog of yeast SWI3, is essential for early embryogenesis and involved in brain development. Mol Cell Biol 21:7787-7795.
67. Kleefstra T, Kramer JM, Neveling K, Willemsen MH, Koemans TS, Vissers LE, Wissink-Lindhout W, Fenckova M, van den Akker WM, Kasri NN, Nillesen WM, Prescott T, Clark RD, Devriendt K, van Reeuwijk J, de Brouwer AP, Gilissen C, Zhou H, Brunner HG, Veltman JA, Schenck A, van Bokhoven H. 2012. Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. Am J Hum Genet 91:73-82.
68. Klochendler-Yeivin A, Fiette L, Barra J, Muchardt C, Babinet C, Yaniv M. 2000. The murine SNF5/INI1 chromatin remodeling factor is essential for embryonic development and tumor suppression. EMBO Rep 1:500-506.
69. Koga M, Ishiguro H, Yazaki S, Horiuchi Y, Arai M, Niizato K, Iritani S, Itokawa M, Inada T, Iwata N, Ozaki N, Ujike H, Kunugi H, Sasaki T, Takahashi M, Watanabe Y, Someya T, Kakita A, Takahashi H, Nawa H, Muchardt C, Yaniv M, Arinami T. 2009. Involvement of SMARCA2/BRM in the SWI/SNF chromatin-remodeling complex in schizophrenia. Hum Mol Genet 18:2483-2494.
70. Kornberg RD. 1974. Chromatin structure: a repeating unit of histones and DNA. Science 184:868-871.
71. Krichevsky AM, Sonntag KC, Isacson O, Kosik KS. 2006. Specific microRNAs modulate embryonic stem cell-derived neurogenesis. Stem Cells 24:857-864.
72. Kriegstein A, Noctor S, Martínez-Cerdeño V. 2006. Patterns of neural stem and progenitor cell division may underlie evolutionary cortical expansion. Nat Rev Neurosci 7:883-890.
73. De la Serna IL, Carlson KA, Imbalzano AN. 2001. Mammalian SWI/SNF complexes promote MyoD-mediated muscle differentiation. Nat Genet 27:187-190.
74. Lagos-Quintana M, Rauhut R, Yalcin A, Meyer J, Lendeckel W, Tuschl T. 2002. Identification of tissue-specific microRNAs from mouse. Curr Biol 12:735-739.
75. LaMonica BE, Lui JH, Hansen DV, Kriegstein AR. 2013. Mitotic spindle orientation predicts outer radial glial cell generation in human neocortex. Nat Commun 4:1665.
76. Laurent BC, Carlson M. 1992. Yeast SNF2/SWI2, SNF5, and SNF6 proteins function coordinately with the gene-specific transcriptional activators GAL4 and Bicoid. Genes Dev 6:1707-1715.
77. Laurent BC, Treitel MA, Carlson M. 1991. Functional interdependence of the yeast SNF2, SNF5, and SNF6 proteins in transcriptional activation. Proc Natl Acad Sci USA 88:2687-2691.
78. Lessard J, Wu JI, Ranish JA, Wan M, Winslow MM, Staahl BT, Wu H, Aebersold R, Graef IA, Crabtree GR. 2007. An essential switch in subunit composition of a chromatin remodeling complex during neural development. Neuron 55:201-215.
79. Letinic K, Zoncu R, Rakic P. 2002. Origin of GABAergic neurons in the human neocortex. Nature 417:645-649.
80. Lewis BP, Burge CB, Bartel DP. 2005. Conserved seed pairing, often flanked by adenosines, indicates that thousands of human genes are microRNA targets. Cell 120:15-20.
81. Li W, Xiong Y, Shang C, Twu KY, Hang CT, Yang J, Han P, Lin CY, Lin CJ, Tsai F-C, Stankunas K, Meyer T, Bernstein D, Pan M, Chang CP. 2013. Brg1 governs distinct pathways to direct multiple aspects of mammalian neural crest cell development. Proc Natl Acad Sci USA 110:1738-1743.
82. Lickert H, Takeuchi JK, Von Both I, Walls JR, McAuliffe F, Adamson SL, Henkelman RM, Wrana JL, Rossant J, Bruneau BG. 2004. Baf60c is essential for function of BAF chromatin remodelling complexes in heart development. Nature 432:107-112.
83. Limpert AS, Bai S, Narayan M, Wu J, Yoon SO, Carter BD, Lu QR. 2013. NF-kB forms a complex with the chromatin remodeler BRG1 to regulate Schwann cell differentiation. J Neurosci 33:2388-2397.
84. Loe-Mie Y, Lepagnol-Bestel AM, Maussion G, Doron-Faigenboim A, Imbeaud S, Delacroix H, Aggerbeck L, Pupko T, Gorwood P, Simonneau M, Moalic JM. 2010. SMARCA2 and other genome-wide supported schizophrenia-associated genes: Regulation by REST/NRSF, network organization and primate-specific evolution. Hum Mol Genet 19:2841-2857.
85. Loh YH, Wu Q, Chew JL, Vega VB, Zhang W, Chen X, Bourque G, George J, Leong B, Liu J, Wong KY, Sung KW, Lee CW, Zhao XD, Chiu KP, Lipovich L, Kuznetsov VA, Robson P, Stanton LW, Wei CL, Ruan Y, Lim B, Ng HH. 2006. The Oct4 and Nanog transcription network regulates pluripotency in mouse embryonic stem cells. Nat Genet 38:431-440.
86. Lois C, Alvarez-Buylla A. 1994. Long-distance neuronal migration in the adult mammalian brain. Science 264:1145-1148.
87. Lunyak VV, Burgess R, Prefontaine GG, Nelson C, Sze SH, Chenoweth J, Schwartz P, Pevzner PA, Glass C, Mandel G, Rosenfeld MG. 2002. Corepressor-dependent silencing of chromosomal regions encoding neuronal genes. Science 298:1747-1752.
88. Luskin MB. 1993. Restricted proliferation and migration of postnatally generated neurons derived from the forebrain subventricular zone. Neuron 11:173-189.
89. Makeyev EV, Zhang J, Carrasco MA, Maniatis T. 2007. The MicroRNA miR-124 promotes neuronal differentiation by triggering brainspecific alternative pre-mRNA splicing. Mol Cell 27:435-448.
90. Marathe HG, Mehta G, Zhang X, Datar I, Mehrotra A, Yeung KC, de la Serna IL. 2013. SWI/SNF enzymes promote SOX10-mediated ativation of myelin gene expression. PLoS One 8.
91. Marin-Padilla M. 1992. Ontogenesis of the pyramidal cell of the mammalian neocortex and developmental cytoarchitectonics: A unifying theory. J Comp Neurol 321:223-240.
92. Masui S, Nakatake Y, Toyooka Y, Shimosato D, Yagi R, Takahashi K, Okochi H, Okuda A, Matoba R, Sharov AA, Ko MS, Niwa H. 2007. Pluripotency governed by Sox2 via regulation of Oct3/4 expression in mouse embryonic stem cells. Nat Cell Biol 9:625-635.
93. Matsuda T, Nakamura T, Nakao K, Arai T, Katsuki M, Heike T, Yokota T. 1999. STAT3 activation is sufficient to maintain an undifferentiated state of mouse embryonic stem cells. EMBO J 18:4261-4269.
94. Matsumoto S, Banine F, Struve J, Xing R, Adams C, Liu Y, Metzger D, Chambon P, Rao MS, Sherman LS. 2006. Brg1 is required for murine neural stem cell maintenance and gliogenesis. Dev Biol 289:372-383.
95. Matsunami H, Buck LB. 1997. A multigene family encoding a diverse array of putative pheromone receptors in mammals. Cell 90:775-784.
96. Meng J, Fujita H, Nagahara N, Kashiwai A, Yoshioka Y, Funato M. 1992. Two patients with chromosome 6q terminal deletions with breakpoints at q24.3 and q25.3. Am J Med Genet 43:747-750.
97. Menn B, Garcia-Verdugo JM, Yaschine C, Gonzalez-Perez O, Rowitch D, Alvarez-Buylla A. 2006. Origin of oligodendrocytes in the subventricular zone of the adult brain. J Neurosci 26:7907-7918.
98. Molnár Z, Cheung AFP. 2006. Towards the classification of subpopulations of layer V pyramidal projection neurons. Neurosci Res 55:105-115.
99. Muzio L, DiBenedetto B, Stoykova A, Boncinelli E, Gruss P, Mallamaci A. 2002. Conversion of cerebral cortex into basal ganglia in Emx2 (-/-) Pax6(Sey/Sey) double-mutant mice. Nat Neurosci 5:737-745.
100. Nagamani SC, Erez A, Eng C, Ou Z, Chinault C, Workman L, Coldwell J, Stankiewicz P, Patel A, Lupski JR, Cheung SW. 2009. Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss. Eur J Hum Genet 17:573-581.
101. Nagl NG, Wang X, Patsialou A, Van Scoy M, Moran E. 2007. Distinct mammalian SWI/SNF chromatin remodeling complexes with opposing roles in cell-cycle control. EMBOJ 26:752-763.
102. Narahara K, Tsuji K, Yokoyama Y, Namba H, Murakami M, Matsubara T, Kasai R, Fukushima Y, Seki T, Wakui K. 1991. Specification of small distal 6q deletions in two patients by gene dosage and in situ hybridization study of plasminogen and alpha-L-fucosidase 2. Am J Med Genet 40:348-353.
103. Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A, Lin CF, Stevens C, Wang LS, Makarov V, Polak P, Yoon S, Maguire J, Crawford EL, Campbell NG, Geller ET, Valladares O, Schafer C, Liu H, Zhao T, Cai G, Lihm J, Dannenfelser R, Jabado O, Peralta Z, Nagaswamy U, Muzny D, Reid JG, Newsham I, Wu Y, Lewis L, Han Y, Voight BF, Lim E, Rossin E, Kirby A, Flannick J, Fromer M, Shakir K, Fennell T, Garimella K, Banks E, Poplin R, Gabriel S, DePristo M, Wimbish JR, Boone BE, Levy SE, Betancur C, Sunyaev S, Boerwinkle E, Buxbaum JD, Cook EH, Devlin B, Gibbs Ra, Roeder K, Schellenberg GD, Sutcliffe JS, Daly MJ. 2012. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 485:242-245.
104. Neigeborn L, Carlson M. 1984. Genes affecting the regulation of SUC2 gene expression by glucose repression in Saccharomyces cerevisiae. Genetics 108:845-858.
105. Neumüller RA, Richter C, Fischer A, Novatchkova M, Neumüller KG, Knoblich JA. 2011. Genome-wide analysis of self-renewal in Drosophila neural stem cells by transgenic RNAi. Cell Stem Cell 8:580-593.
106. Nicolaides P, Baraitser M. 1993. An unusual syndrome with mental retardation and sparse hair. Clin Dysmorphol 2:232-236.
107. Ninkovic J, Steiner-Mezzadri A, Jawerka M, Akinci U, Masserdotti G, Petricca S, Fischer J, Von Holst A, Beckers J, Lie CD, Petrik D, Miller E, Tang J, Wu J, Lefebvre V, Demmers J, Eisch A, Metzger D, Crabtree G, Irmler M, Poot R, Götz M. 2013. The BAF complex interacts with Pax6 in adult neural progenitors to establish a neurogenic cross-regulatory transcriptional network. Cell Stem Cell 13:403-418.
108. Niwa H, Burdon T, Chambers I, Smith A. 1998. Self-renewal of pluripotent embryonic stem cells is mediated via activation of STAT3. Genes Dev 12:2048-2060.
109. Noctor SC, Martínez-Cerdeño V, Ivic L, Kriegstein AR. 2004. Cortical neurons arise in symmetric and asymmetric division zones and migrate through specific phases. Nat Neurosci 7:136-144.
110. Nord AS, Roeb W, Dickel DE, Walsh T, Kusenda M, O'Connor KL, Malhotra D, McCarthy SE, Stray SM, Taylor SM, Sebat J, King B, King M-C, McClellan JM. 2011. Reduced transcript expression of genes affected by inherited and de novo CNVs in autism. Eur J Hum Genet 19:727-731.
111. Nutt SL, Heavey B, Rolink AG, Busslinger M. 1999. Commitment to the B-lymphoid lineage depends on the transcription factor Pax5. Nature 401:556-562.
112. O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee C, Smith JD, Turner EH, Stanaway IB, Vernot B, Malig M, Baker C, Reilly B, Akey JM, Borenstein E, Rieder MJ, Nickerson DA, Bernier R, Shendure J, Eichler EE. 2012. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 485:246-250.
113. Ohkawa Y, Marfella CG, Imbalzano AN. 2006. Skeletal muscle specification by myogenin and Mef2D via the SWI/SNF ATPase Brg1. EMBO J 25:490-501.
114. Olave I, Wang W, Xue Y, Kuo A, Crabtree GR. 2002. Identification of a polymorphic, neuron-specific chromatin remodeling complex. Genes Dev 16:2509-2517.
115. Oliveira-Duarte MH, Martelli-Soares LR, Sarquis-Cintra T, Machado ML, Lison MP. 1990. Distal monosomy of the long arm of chromosome 6 (6q25--6qter) inherited by maternal translocation t (6q;17q). Ann Genet 33:56-59.
116. Van Os J, Kapur S. 2009. Schizophrenia. Lancet 374:635-645.
117. Parrish JZ, Kim MD, Jan LY, Jan YN. 2006. Genome-wide analyses identify transcription factors required for proper morphogenesis of Drosophila sensory neuron dendrites. Genes Dev 20:820-835.
118. Peterson CL, Herskowitz I. 1992. Characterization of the yeast SWI1, SWI2, and SWI3 genes, which encode a global activator of transcription. Cell 68:573-583.
119. Pinto L, Mader MT, Irmler M, Gentilini M, Santoni F, Drechsel D, Blum R, Stahl R, Bulfone A, Malatesta P, Beckers J, Götz M. 2008. Prospective isolation of functionally distinct radial glial subtypes-lineage and transcriptome analysis. Mol Cell Neurosci 38:15-42.
120. Pirola B, Bortotto L, Giglio S, Piovan E, Janes A, Guerrini R, Zuffardi O. 1998. Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25. J Med Genet 35:1031-1033.
121. Pontious A, Kowalczyk T, Englund C, Hevner RF. 2007. Role of intermediate progenitor cells in cerebral cortex development. Dev Neurosci 30:24-32.
122. Quinn JC, Molinek M, Martynoga BS, Zaki PA, Faedo A, Bulfone A, Hevner RF, West JD, Price DJ. 2007. Pax6 controls cerebral cortical cell number by regulating exit from the cell cycle and specifies cortical cell identity by a cell autonomous mechanism. Dev Biol 302:50-65.
123. Redmond L, Kashani AH, Ghosh A. 2002. Calcium regulation of dendritic growth via CaM kinase IV and CREB-mediated transcription. Neuron 34:999-1010.
124. Reyes JC, Barra J, Muchardt C, Camus A, Babinet C, Yaniv M. 1998. Altered control of cellular proliferation in the absence of mammalian brahma (SNF2alpha). EMBO J 17:6979-6991.
125. Rivas F, Ruiz C, Rivera H, Möller M, Serrano-Lucas JI, Cantú JM. 1986. De novo del (6) (q25) associated with macular degeneration. Ann Genet 29:42-44.
126. Ronan JL, Wu W, Crabtree GR. 2013. From neural development to cognition: Unexpected roles for chromatin. Nat Rev Genet 14:347-359.
127. Ropers HH. 2010. Genetics of early onset cognitive impairment. Annu Rev Genomics Hum Genet 11:161-187.
128. Rowitch DH, S-Jacques B, Lee SM, Flax JD, Snyder EY, McMahon AP. 1999. Sonic hedgehog regulates proliferation and inhibits differentiation of CNS precursor cells. J Neurosci 19:8954-8965.
129. Rowland LP, Shneider NA. 2001. Amyotrophic lateral sclerosis. N Engl J Med 344:1688-1700.
130. Ryba NJ, Tirindelli R. 1997. A new multigene family of putative pheromone receptors. Neuron 19:371-379.
131. Santen GW, Aten E, Sun Y, Almomani R, Gilissen C, Nielsen M, Kant SG, Snoeck IN, Peeters EA, Hilhorst-Hofstee Y, Wessels MW, den Hollander NS, Ruivenkamp CA, van Ommen GJ, Breuning MH, den Dunnen JT, van Haeringen A, Kriek M. 2012. Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. Nat Genet 44:379-380.
132. Santen GW, Aten E, Vulto-van Silfhout AT, Pottinger C, van Bon BW, van Minderhout IJ, Snowdowne R, van der Lans CA, Boogaard M, Linssen MM, Vijfhuizen L, van der Wielen MJ, Vollebregt MJ; Coffin-Siris consortium, Breuning MH, Kriek M, van Haeringen A, den Dunnen JT, Hoischen A, Clayton-Smith J, de Vries BB, Hennekam RC, van Belzen MJ. 2013. Coffin-Siris syndrome and the BAF complex: Genotype-phenotype study in 63 patients. Hum Mutat 34:1519-1528.
133. Sawa H, Kouike H, Okano H. 2000. Components of the SWI/SNF complex are required for asymmetric cell division in C. elegans. Mol Cell 6:617-624.
134. Schnetz MP, Handoko L, Akhtar-Zaidi B, Bartels CF, Filipe Pereira C, Fisher AG, Adams DJ, Flicek P, Crawford GE, LaFramboise T, Tesar P, Wei CL, Scacheri PC. 2010. CHD7 targets active gene enhancer elements to modulate ES cell-specific gene expression. PLoS Genet 6:1-15.
135. Schuurmans C, Armant O, Nieto M, Stenman JM, Britz O, Klenin N, Brown C, Langevin LM, Seibt J, Tang H, Cunningham JM, Dyck R, Walsh C, Campbell K, Polleux F, Guillemot F. 2004. Sequential phases of cortical specification involve Neurogenin-dependent and-independent pathways. EMBO J 23:2892-2902.
136. Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, Yamrom B, Yoon S, Krasnitz A, Kendall J, Leotta A, Pai D, Zhang R, Lee Y-H, Hicks J, Spence SJ, Lee AT, Puura K, Lehtimäki T, Ledbetter D, Gregersen PK, Bregman J, Sutcliffe JS, Jobanputra V, Chung W, Warburton D, King M-C, Skuse D, Geschwind DH, Gilliam TC, Ye K, Wigler M. 2007. Strong association of de novo copy number mutations with autism. Science 316:445-449.
137. Shao Z, Raible F, Mollaaghababa R, Guyon JR, Wu CT, Bender W, Kingston RE. 1999. Stabilization of chromatin structure by PRC1, a Polycomb complex. Cell 98:37-46.
138. Simon R, Brylka H, Schwegler H, Venkataramanappa S, Andratschke J, Wiegreffe C, Liu P, Fuchs E, Jenkins NA, Copeland NG, Birchmeier C, Britsch S. 2012. A dual function of Bcl11b/Ctip2 in hippocampal neurogenesis. EMBO J 31:2922-2936.
139. Sousa SB, Abdul-Rahman OA, Bottani A, Cormier-Daire V, Fryer A, Gillessen-Kaesbach G, Horn D, Josifova D, Kuechler A, Lees M, MacDermot K, Magee A, Morice-Picard F, Rosser E, Sarkar A, Shannon N, Stolte-Dijkstra I, Verloes A, Wakeling E, Wilson L, Hennekam RC. 2009. Nicolaides-Baraitser syndrome: Delineation of the phenotype. Am J Med Genet A 149:1628-1640.
140. Staahl BT, Tang J, Wu W, Sun A, Gitler AD, Yoo AS, Crabtree GR. 2013. Kinetic analysis of npBAF to nBAF switching reveals exchange of SS18 with CREST and integration with neural developmental pathways. J Neurosci 33:10348-10361.
141. Stern M, Jensen R, Herskowitz I. 1984. Five SWI genes are required for expression of the HO gene in yeast. J Mol Biol 178:853-868.
142. Stoykova A, Treichel D, Hallonet M, Gruss P. 2000. Pax6 modulates the dorsoventral patterning of the mammalian telencephalon. J Neurosci 20:8042-8050.
143. Sukumar S, Wang S, Hoang K, Vanchiere CM, England K, Fick R, Pagon B, Reddy KS. 1999. Subtle overlapping deletions in the terminal region of chromosome 6q24.2-q26: Three cases studied using FISH. Am J Med Genet 87:17-22.
144. Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu XQ, Vincent JB, Skaug JL, Thompson AP, Senman L, Feuk L, Qian C, Bryson SE, Jones MB, Marshall CR, Scherer SW, Vieland VJ, Bartlett C, Mangin LV, Goedken R, Segre A, Pericak-Vance MA, Cuccaro ML, Gilbert JR, Wright HH, Abramson RK, Betancur C, Bourgeron T, Gillberg C, Leboyer M, Buxbaum JD, Davis KL, Hollander E, Silverman JM, Hallmayer J, Lotspeich L, Sutcliffe JS, Haines JL, Folstein SE, Piven J, Wassink TH, Sheffield V, Geschwind DH, Bucan M, Brown WT, Cantor RM, Constantino JN, Gilliam TC, Herbert M, Lajonchere C, Ledbetter DH, Lese-Martin C, Miller J, Nelson S, Samango-Sprouse CA, Spence S, State M, Tanzi RE, Coon H, Dawson G, Devlin B, Estes A, Flodman P, Klei L, McMahon WM, Minshew N, Munson J, Korvatska E, Rodier PM, Schellenberg GD, Smith M, Spence MA, Stodgell C, Tepper PG, Wijsman EM, Yu CE, Rogé B, Mantoulan C, Wittemeyer K, Poustka A, Felder B, Klauck SM, Schuster C, Poustka F, Bölte S, Feineis-Matthews S, Herbrecht E, Schmötzer G, Tsiantis J, Papanikolaou K, Maestrini E, Bacchelli E, Blasi F, Carone S, Toma C, Van Engeland H, de Jonge M, Kemner C., et al. 2007. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 39:319-328.
145. Tamkun JW, Deuring R, Scott MP, Kissinger M, Pattatucci AM, Kaufman TC, Kennison JA. 1992. brahma: A regulator of Drosophila homeotic genes structurally related to the yeast transcriptional activator SNF2/SWI2. Cell 68:561-572.
146. Tatton-brown K, Hanks S, Ruark E, Zachariou A, Duarte DV, Ramsay E, Snape K, Murray A, Elizabeth R. 2011. Germline mutations in the oncogene EZH2 causeWeaver syndrome and increased human height. Oncotarget 2:1127-1133.
147. Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, Mcconnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S, Rahman N. 2013. Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. Am J Med Genet A 161:2972-2980.
148. Tea JS, Luo L. 2011. The chromatin remodeling factor Bap55 functions through the TIP60 complex to regulate olfactory projection neuron dendrite targeting. Neural Dev 6:5.
149. Toresson H, Potter SS, Campbell K. 2000. Genetic control of dorsal-ventral identity in the telencephalon: Opposing roles for Pax6 and Gsh2. Development 127:4361-4371.
150. Tsurusaki Y, Koshimizu E, Ohashi H, Phadke S, Kou I, Shiina M, Suzuki T, Okamoto N, Imamura S, Yamashita M, Watanabe S, Yoshiura K, Kodera H, Miyatake S, Nakashima M, Saitsu H, Ogata K, Ikegawa S, Miyake N, Matsumoto N. 2014. De novo SOX11 mutations cause Coffin-Siris syndrome. Nat Commun 5:4011.
151. Tsurusaki Y, Okamoto N, Ohashi H, Kosho T. 2012. Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet 44:376-378.
152. Tsurusaki Y, Okamoto N, Ohashi H, Mizuno S, Matsumoto N, Makita Y, Fukuda M, Isidor B, Perrier J, Aggarwal S, Dalal AB, Al-Kindy A, Liebelt J, Mowat D, Nakashima M, Saitsu H, Miyake N, Matsumoto N. 2013. Coffin-Siris syndrome is a SWI/SNF complex disorder. Clin Genet 85:1-7.
153. Tuoc T, Boretius S, Sansom S, Pitulescu ME, Frahm J, Livesey F, Stoykova A. 2013. Chromatin regulation by BAF170 controls cerebral cortical size and thickness. Dev Cell 25:256-269.
154. Valtat C, Galliano D, Mettey R, Toutain A, Moraine C. 1992. Monosomy 6q: Report on four new cases. Clin Genet 41:159-166.
155. Visvanathan J, Lee S, Lee B, Lee JW, Lee SK. 2007. The microRNA miR-124 antagonizes the anti-neural REST/SCP1 pathway during embryonic CNS development. Genes Dev 21:744-749.
156. Vogel-Ciernia A, Matheos DP, Barrett RM, Kramár EA, Azzawi S, Chen Y, Magnan CN, Zeller M, Sylvain A, Haettig J, Jia Y, Tran A, Dang R, Post RJ, Chabrier M, Babayan AH, Wu JI, Crabtree GR, Baldi P, Baram TZ, Lynch G, Wood MA. 2013. The neuron-specific chromatin regulatory subunit BAF53b is necessary for synaptic plasticity and memory. Nat Neurosci 16: 552-561.
157. Wakabayashi Y, Watanabe H, Inoue J, Takeda N, Sakata J, Mishima Y, Hitomi J, Yamamoto T, Utsuyama M, Niwa O, Aizawa S, Kominami R. 2003. Bcl11b is required for differentiation and survival of alphabeta T lymphocytes. Nat Immunol 4:533-539.
158. Wang X, Tsai JW, LaMonica B, Kriegstein AR. 2011. A new subtype of progenitor cell in the mouse embryonic neocortex. Nat Neurosci 14:555-561.
159. Weinberg P, Flames N, Sawa H, Garriga G, Hobert O. 2013. The SWI/SNF chromatin remodeling complex selectively affects multiple aspects of serotonergic neuron differentiation. Genetics 194:189-198.
160. Weintraub H. 1993. The MyoD family and myogenesis: Redundancy, networks, and thresholds. Cell 75:1241-1244.
161. Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MA, Green T, Platt OS, Ruderfer DM, Walsh CA, Altshuler D, Chakravarti A, Tanzi RE, Stefansson K, Santangelo SL, Gusella JF, Sklar P, Wu BL, Daly MJ, Autism Consortium. 2008. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 358: 667-675.
162. Whitford KL, Dijkhuizen P, Polleux F, Ghosh A. 2002. Molecular control of cortical dendrite development. Annu Rev Neurosci 25:127-149.
163. Wieczorek D, Bögershausen N, Beleggia F, Steiner-Haldenstätt S, Pohl E, Li Y, Milz E, Martin M, Thiele H, Altmüller J, Alanay Y, Kayserili H, Klein-Hitpass L, Böhringer S, Wollstein A, Albrecht B, Boduroglu K, Caliebe A, Chrzanowska K, Cogulu O, Cristofoli F, Czeschik JC, Devriendt K, Dotti MT, Elcioglu N, Gener B, Goecke TO, Krajewska-Walasek M, Guillén-Navarro E, Hayek J, Houge G, Kilic E, Simsek-Kiper PÖ, López-González V, Kuechler A, Lyonnet S, Mari F, Marozza A, Mathieu Dramard M, Mikat B, Morin G, Morice-Picard F, Ozkinay F, Rauch A, Renieri A, Tinschert S, Utine GE, Vilain C, Vivarelli R, Zweier C, Nürnberg P, Rahmann S, Vermeesch J, Lüdecke HJ, Zeschnigk M, Wollnik B. 2013. A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum Mol Genet 22:5121-5135.
164. Wilson BG, Wang X, Shen X, McKenna ES, Lemieux ME, Cho YJ, Koellhoffer EC, Pomeroy SL, Orkin SH, Roberts CW. 2010. Epigenetic antagonism between polycomb and SWI/SNF complexes during oncogenic transformation. Cancer Cell 18:316-328.
165. Wise SP, Jones EG. 1977. Cells of origin and terminal distribution of descending projections of the rat somatic sensory cortex. J Comp Neurol 175:129-157.
166. WolffD, Endele S, Azzarello-Burri S, Hoyer J, Zweier M, Schanze I, Schmitt B, Rauch A, Reis A, Zweier C. 2011. In-frame deletion and missense mutations of the C-terminal helicase domain of SMARCA2 in three patients with Nicolaides-Baraitser syndrome. Mol Syndromol 2:237-244.
167. WolffD, Endele S, Azzarello-Burri S, Hoyer J, Zweier M, Schanze I, Schmitt B, Rauch A, Reis A, Zweier C. 2012. In-frame deletion and missense mutations of the c-terminal helicase domain of SMARCA2 in three patients with Nicolaides-Baraitser syndrome. Mol Syndromol 2:237-244.
168. Wonders CP, Anderson SA. 2006. The origin and specification of cortical interneurons. Nat Rev Neurosci 7:687-696.
169. Wu JI, Lessard J, Olave IA, Qiu Z, Ghosh A, Graef IA, Crabtree GR. 2007. Regulation of dendritic development by neuron-specific chromatin remodeling complexes. Neuron 56:94-108.
170. Xiong Y, Li W, Shang C, Chen R, Han P, Yang J, Stankunas K, Wu B, Pan M, Zhou B, Longaker M, Chang CP. 2013. Brg1 governs a positive feedback circuit in the hair follicle for tissue regeneration and repair. Dev Cell 25:169-181.
171. Yoo AS, Crabtree GR. 2009. ATP-dependent chromatin remodeling in neural development. Curr Opin Neurobiol 19:120-126.
172. Yoo AS, Staahl BT, Chen L, Crabtree GR. 2009. MicroRNA-mediated switching of chromatin-remodelling complexes in neural development. Nature 460:642-646.
173. Yoo AS, Sun AX, Li L, Shcheglovitov A, Portmann T, Li Y, Lee-Messer C, Dolmetsch RE, Tsien RW, Crabtree GR. 2011. MicroRNAmediated conversion of human fibroblasts to neurons. Nature 476:228-231.
174. Yu Y, Chen Y, Kim B, Wang H, Zhao C, He X, Liu L, Liu W, Wu LMN, Mao M, Chan JR, Wu J, Lu QR. 2013. Olig2 targets chromatin remodelers to enhancers to initiate oligodendrocyte differentiation. Cell 152:248-261.
175. Yun K, Potter S, Rubenstein JL. 2001. Gsh2 and Pax6 play complementary roles in dorsoventral patterning of the mammalian telencephalon. Development 128:193-205.
176. Zhan X, Shi X, Zhang Z, Chen Y, Wu JI. 2011. Dual role of Brg chromatin remodeling factor in Sonic hedgehog signaling during neural development. Proc Natl Acad Sci USA 108:12758-12763.
177. Zhao K, Wang W, Rando OJ, Xue Y, Swiderek K, Kuo A, Crabtree GR. 1998. Rapid and phosphoinositol-dependent binding of the SWI/SNF-like BAF complex to chromatin after T lymphocyte receptor signaling. Cell 95:625-636.
178. Zoghbi HY. 2003. Postnatal neurodevelopmental disorders: meeting at the synapse? Science 302:826-830.