Histone H3K36 methyltransferases NSD1 and SETD2 are required for brain development

Aubert J, Stavridis MP, Tweedie S, O’Reilly M, Vierlinger K, Li M, Ghazal P, Pratt T, Mason JO, Roy D, Smith A (2003) Screening for mammalian neural genes via fluorescence-activated cell sorter purification of neural precursors from Sox1-gfp knock-in mice. Proc Natl Acad Sci U S A 100(Suppl 1):11836–11841. https://doi.org/10.1073/pnas.1734197100

Article  CAS  PubMed  PubMed Central  Google Scholar 

Beard DC, Zhang X, Wu DY, Martin JR, Erickson A, Boua JV, Hamagami N, Swift RG, McCullough KB, Ge X, Bell-Hensley A, Zheng H, Palmer CW, Fuhler NA, Lawrence AB, Hill CA, Papouin T, Noguchi KK, McAlinden A, Garbow JR, Dougherty JD, Maloney SE, Gabel HW (2023) Distinct disease mutations in DNMT3A result in a spectrum of behavioral, epigenetic, and transcriptional deficits. Cell Rep 42:113411. https://doi.org/10.1016/j.celrep.2023.113411

Article  CAS  PubMed  PubMed Central  Google Scholar 

Benito-Kwiecinski S, Giandomenico SL, Sutcliffe M, Riis ES, Freire-Pritchett P, Kelava I, Wunderlich S, Martin U, Wray GA, McDole K, Lancaster MA (2021) An early cell shape transition drives evolutionary expansion of the human forebrain. Cell 184:2084-2102.e19. https://doi.org/10.1016/j.cell.2021.02.050

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bernier R, Golzio C, Xiong B, Stessman HA, Coe BP, Penn O, Witherspoon K, Gerdts J, Baker C, Vulto-van Silfhout AT, Schuurs-Hoeijmakers JH, Fichera M, Bosco P, Buono S, Alberti A, Failla P, Peeters H, Steyaert J, Vissers L, Francescatto L, Mefford HC, Rosenfeld JA, Bakken T, O’Roak BJ, Pawlus M, Moon R, Shendure J, Amaral DG, Lein E, Rankin J, Romano C, de Vries BBA, Katsanis N, Eichler EE (2014) Disruptive CHD8 mutations define a subtype of autism early in development. Cell 158:263–276. https://doi.org/10.1016/j.cell.2014.06.017

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chen F, Chen J, Wang H, Tang H, Huang L, Wang S, Wang X, Fang X, Liu J, Li L, Ouyang K, Han Z (2021) Histone lysine methyltransferase SETD2 regulates coronary vascular development in embryonic mouse hearts. Front Cell Dev Biol 9:651655. https://doi.org/10.3389/fcell.2021.651655

Article  PubMed  PubMed Central  Google Scholar 

Chen S, Liu D, Chen B, Li Z, Chang B, Xu C, Li N, Feng C, Hu X, Wang W, Zhang Y, Xie Y, Huang Q, Wang Y, Nimer SD, Chen S, Chen Z, Wang L, Sun X (2024) Catalytic activity of Setd2 is essential for embryonic development in mice: establishment of a mouse model harboring patient-derived Setd2 mutation. Front Med 18:831–849. https://doi.org/10.1007/s11684-024-1095-1

Article  CAS  PubMed  Google Scholar 

Dikow N, Maas B, Gaspar H, Kreiss-Nachtsheim M, Engels H, Kuechler A, Garbes L, Netzer C, Neuhann TM, Koehler U, Casteels K, Devriendt K, Janssen JW, Jauch A, Hinderhofer K, Moog U (2013) The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome? Am J Med Genet A 161:2158–66. https://doi.org/10.1002/ajmg.a.36046

Article  CAS  Google Scholar 

Edmunds JW, Mahadevan LC, Clayton AL (2008) Dynamic histone H3 methylation during gene induction: HYPB/Setd2 mediates all H3K36 trimethylation. Embo J 27:406–420. https://doi.org/10.1038/sj.emboj.7601967

Article  CAS  PubMed  Google Scholar 

Hamagami N, Wu DY, Clemens AW, Nettles SA, Li A, Gabel HW (2023) NSD1 deposits histone H3 lysine 36 dimethylation to pattern non-CG DNA methylation in neurons. Mol Cell 83:1412-1428.e7. https://doi.org/10.1016/j.molcel.2023.04.001

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hu M, Sun XJ, Zhang YL, Kuang Y, Hu CQ, Wu WL, Shen SH, Du TT, Li H, He F, Xiao HS, Wang ZG, Liu TX, Lu H, Huang QH, Chen SJ, Chen Z (2010) Histone H3 lysine 36 methyltransferase Hypb/Setd2 is required for embryonic vascular remodeling. Proc Natl Acad Sci U S A 107:2956–2961. https://doi.org/10.1073/pnas.0915033107

Article  PubMed  PubMed Central  Google Scholar 

Hu G, Zheng Y, Zhang B, Zhao C, Xu L, Wei J, Jing J, Liu Y, Zeng T, Zhou Y (2024) Histone methyltransferase SETD2 is required for proper hippocampal lamination and neuronal maturation. Mol Biol Cell 35:ar54. https://doi.org/10.1091/mbc.E23-12-0492

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hu M, Li J, Deng J, Liu C, Liu Y, Li H, Feng W, Xu X (2024b) AAV-mediated Stambp gene replacement therapy rescues neurological defects in a mouse model of microcephaly-capillary malformation syndrome. Mol Ther 32:4095–4107. https://doi.org/10.1016/j.ymthe.2024.08.017

Article  CAS  PubMed  Google Scholar 

Hurley S, Mohan C, Suetterlin P, Ellingford R, Riegman KLH, Ellegood J, Caruso A, Michetti C, Brock O, Evans R, Rudari F, Delogu A, Scattoni ML, Lerch JP, Fernandes C, Basson MA (2021) Distinct, dosage-sensitive requirements for the autism-associated factor CHD8 during cortical development. Mol Autism 12:16. https://doi.org/10.1186/s13229-020-00409-3

Article  CAS  PubMed  PubMed Central  Google Scholar 

Katayama Y, Nishiyama M, Shoji H, Ohkawa Y, Kawamura A, Sato T, Suyama M, Takumi T, Miyakawa T, Nakayama KI (2016) CHD8 haploinsufficiency results in autistic-like phenotypes in mice. Nature 537:675–679. https://doi.org/10.1038/nature19357

Article  CAS  PubMed  Google Scholar 

Kurotaki N, Imaizumi K, Harada N, Masuno M, Kondoh T, Nagai T, Ohashi H, Naritomi K, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Hasegawa T, Chinen Y, Tomita Ha HA, Kinoshita A, Mizuguchi T, Yoshiura Ki K, Ohta T, Kishino T, Fukushima Y, Niikawa N, Matsumoto N (2002) Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet 30:365–366. https://doi.org/10.1038/ng863

Article  CAS  PubMed  Google Scholar 

Luscan A, Laurendeau I, Malan V, Francannet C, Odent S, Giuliano F, Lacombe D, Touraine R, Vidaud M, Pasmant E, Cormier-Daire V (2014) Mutations in SETD2 cause a novel overgrowth condition. J Med Genet 51:512–517. https://doi.org/10.1136/jmedgenet-2014-102402

Article  CAS  PubMed  Google Scholar 

Oishi S, Harkins D, Kurniawan ND, Kasherman M, Harris L, Zalucki O, Gronostajski RM, Burne THJ, Piper M (2019) Heterozygosity for nuclear factor one X in mice models features of Malan syndrome. EBioMedicine 39:388–400. https://doi.org/10.1016/j.ebiom.2018.11.044

Article  PubMed  Google Scholar 

Oishi S, Zalucki O, Vega MS, Harkins D, Harvey TJ, Kasherman M, Davila RA, Hale L, White M, Piltz S, Thomas P, Burne THJ, Harris L, Piper M (2020) Investigating cortical features of Sotos syndrome using mice heterozygous for Nsd1. Genes Brain Behav 19:e12637. https://doi.org/10.1111/gbb.12637

Article  PubMed  Google Scholar 

Pappas J, Rabin R (2022) SETD2 Neurodevelopmental disorders

Parra A, Rabin R, Pappas J, Pascual P, Cazalla M, Arias P, Gallego-Zazo N, Santana A, Arroyo I, Artigas M, Pachajoa H, Alanay Y, Akgun-Dogan O, Ruaud L, Couque N, Levy J, Porras-Hurtado GL, Santos-Simarro F, Ballesta-Martinez MJ, Guillén-Navarro E, Muñoz-Hernández H, Nevado J, Spanish OverGrowth Registry I, Tenorio-Castano J, Lapunzina P (2023) Clinical heterogeneity and different phenotypes in patients with SETD2 Variants: 18 new patients and review of the literature. Genes (Basel). https://doi.org/10.3390/genes14061179

Article  PubMed  PubMed Central  Google Scholar 

Prokopuk L, Stringer JM, White CR, Vossen R, White SJ, Cohen ASA, Gibson WT, Western PS (2018) Loss of maternal EED results in postnatal overgrowth. Clin Epigenetics 10:95. https://doi.org/10.1186/s13148-018-0526-8

Article  CAS  PubMed  PubMed Central  Google Scholar 

Quintero-Rivera F, Eno CC, Sutanto C, Jones KL, Nowaczyk MJM, Wong D, Earl D, Mirzaa G, Beck A, Martinez-Agosto JA (2021) 5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation. Hum Genet 140:681–690. https://doi.org/10.1007/s00439-020-02240-5

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rabin R, Radmanesh A, Glass IA, Dobyns WB, Aldinger KA, Shieh JT, Romoser S, Bombei H, Dowsett L, Trapane P, Bernat JA, Baker J, Mendelsohn NJ, Popp B, Siekmeyer M, Sorge I, Sansbury FH, Watts P, Foulds NC, Burton J, Hoganson G, Hurst JA, Menzies L, Osio D, Kerecuk L, Cobben JM, Jizi K, Jacquemont S, Bélanger SA, Löhner K, Veenstra-Knol HE, Lemmink HH, Keller-Ramey J, Wentzensen IM, Punj S, McWalter K, Lenberg J, Ellsworth KA, Radtke K, Akbarian S, Pappas J (2020) Genotype-phenotype correlation at codon 1740 of SETD2. Am J Med Genet A 182:2037–2048. https://doi.org/10.1002/ajmg.a.61724

Article  CAS  PubMed  Google Scholar 

Rafii S, Butler JM, Ding BS (2016) Angiocrine functions of organ-specific endothelial cells. Nature 529:316–325. https://doi.org/10.1038/nature17040

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rayasam GV, Wendling O, Angrand PO, Mark M, Niederreither K, Song L, Lerouge T, Hager GL, Chambon P, Losson R (2003) NSD1 is essential for early post-implantation development and has a catalytically active SET domain. Embo j 22:3153–3163. https://doi.org/10.1093/emboj/cdg288

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