What can clinical immunology learn from inborn errors of epigenetic regulators?

نویسندگان

چکیده

The epigenome is at the interface between environmental factors and genome, regulating gene transcription, DNA repair, replication. Epigenetic modifications play a crucial role in establishing maintaining cell identity are especially for neurology, musculoskeletal integrity, function of immune system. Mutations genes encoding components epigenetic machinery lead to development distinct disorders, involving central nervous system host defense. In this review, we focus on By studying phenotype patients with monogenic mutations (inborn errors regulators), demonstrate importance methylation, histone modifications, chromatin remodeling, noncoding RNAs, mRNA processing immunity. Moreover, give short overview therapeutic strategies targeting epigenome. Every body has an identical yet different cells have functions maintain their expression profile as they divide. This cellular retained by processes. Epigenetics term that refers heritable changes without modifying sequence itself.1Bird A. Perceptions epigenetics.Nature. 2007; 447: 396-398Crossref PubMed Scopus (1798) Google Scholar processes exerted via regulation functions, which important roles responsible control accessibility modulation state. replication program dynamic process encompassing marks, transcriptional activity, 3-dimensional organization chromatin.2Marchal C. Sima J. Gilbert D.M. Control timing 3D genome.Nat Rev Mol Cell Biol. 2019; 20: 721-737Crossref (29) human cells, genomic folded into condensed nucleus, retaining its functional capacity interact regulatory elements 4 dimensions (time space).3Olins D.E. Olins A.L. Chromatin history: our view from bridge.Nat 2003; 4: 809-814Crossref (132) Scholar,4Mishra Hawkins R.D. Three-dimensional genome architecture emerging technologies: looping disease.Genome Med. 2017; 9: 87Crossref (28) fiber consists repeats nucleosomal particles, formed wrapping approximately 150 bp double-stranded 1.7 turns around core 8 proteins.5Audia J.E. Campbell R.M. Histone cancer.Cold Spring Harb Perspect 2016; 8a019521Crossref (325) Scholar,6Portela Esteller M. disease.Nat Biotechnol. 2010; 28: 1057-1068Crossref (1665) Although canonical nucleosome 2 copies each H2A, H2B, H3, H4, specialized regions such centromeres, enhancers, or promoters incorporate variant histones replacing counterparts.7Talbert P.B. Henikoff S. variants move: substrates dynamics.Nat 18: 115-126Crossref (154) Scholar,8Kurumizaka H. Kujirai T. Takizawa Y. Contributions structure function.J 2020; 166678Crossref (2) fibers flexible loop dynamically, facilitating contact target distantly located elements. Multiple loops assembled form topologically associated domains anchor proteins CCCTC-binding factor (CTCF) cohesin complex. association similar might chromosomal compartments known A/B. “A” compartment open (euchromatin), significant enrichment hence transcriptionally active state, whereas “B” closed (heterochromatin), inactive B found periphery A mostly positioned centrally nucleus.9Rao S.S.P. Huntley M.H. Durand N.C. Stamenova E.K. Bochkov I.D. Robinson J.T. et al.A map kilobase resolution reveals principles looping.Cell. 2014; 159: 1665-1680Abstract Full Text PDF (2490) Enhancer-promoter interactions seem be constrained within domain. Hence, spacial plays essential biological replication, chromosome translocation, regulation.10Zheng Xie W. differentiation.Nat 535-550Crossref (81) Scholar,11Bonev B. Cavalli G. Organization Genet. 17: 661-678Crossref (358) include posttranslational histones, RNAs (ncRNAs), remodeling. Altogether, organizes “epigenome”12Allis C.D. Jenuwein molecular hallmarks control.Nat 487-500Crossref manner. can influenced factors, adding another layer complexity control.13Feinberg A.P. Phenotypic plasticity epigenetics disease.Nature. 433-440Crossref (1159) system.14Lau C.M. Adams N.M. Geary Weizman O El Rapp Pritykin al.Epigenetic innate adaptive memory.Nat Immunol. 2018; 19: 963-972Crossref (76) Differentiation activation tightly regulated; controlled developmental stages ensure efficient response balance self nonself, detection so-called danger signals case infection malignant transformation. these depends repression confer identity.15Orkin S.H. Diversification haematopoietic stem specific lineages.Nat Rev. 2000; 1: 57-64Crossref There link differentiation. For example, first genome-wide methylation during blood showed early lineage commitment pattern compared common myeloid lymphocyte progenitors.16Ji Ehrlich L.I.R. Seita Murakami P. Doi Lindau al.Comprehensive methylome progenitors.Nature. 467: 338-342Crossref (452) Interestingly, global patterns B-cell show gradual demethylation naive plasma cells.17Kulis Merkel Heath Queirós A.C. Schuyler R.P. Castellano al.Whole-genome fingerprint 2015; 47: 746-756Crossref (159) All signature used distinguish them.18Accomando W.P. Wiencke J.K. Houseman E. Nelson H.H. Kelsey K.T. Quantitative reconstruction leukocyte subsets using methylation.Genome 15: R50Crossref (86) Another example provided modification studied T cells: positive correlation acetylation actively transcribed CD4+ T-cell differentiation toward TH1 TH2, CD8+ was observed.19Zhang J.A. Mortazavi Williams B.A. Wold B.J. Rothenberg E.V. Dynamic transformations marking establish identity.Cell. 2012; 149: 467-482Abstract (231) Scholar, 20Avni O. Lee D. Macian F. Szabo S.J. Glimcher L.H. Rao TH accompanied cytokine genes.Nat 2002; 3: 643-651Crossref 21Roh T.-Y. Cuddapah Cui K. Zhao landscape cells.Proc Natl Acad Sci. 2006; 103: 15782-15787Crossref (0) High-throughput epigenomic techniques opening new opportunities address basis diseases. Epigenomic data large scale available, several projects initiatives been established effort systematically characterize maps: 4-dimensional Alliance Human Epigenome Disease (AHEAD) project, Encyclopedia Elements (ENCODE) National Institutes Health Roadmap Epigenomics program.22Satterlee J.S. Chadwick Tyson F.L. McAllister Beaver Birnbaum L. al.The NIH Common Fund/Roadmap Program: successes comprehensive consortium.Sci Adv. 5: 1-7Crossref (3) 23American Association Cancer Research Task Force; European Union, Network Excellence SABMoving AHEAD international project.Nature. 2008; 454: 711-715Crossref (135) 24Teng He Wang Tan 4DGenome: database interactions.Bioinformatics. 31: 2560-2564Crossref (58) However, most context disease come analysis small number genes. allows safely determine differential count, even phenotyping, means.25Baron U. Werner Schildknecht Schulze J.J. Mulu Liebert U.G. counting samples immunodiagnostics.Sci Transl 10: 1-12Crossref (17) increased use next-generation sequencing tools made it possible interrogate entire individual identify monogenetic causes diseases machinery. not excluded inborn regulators, group propose abbreviate acronym IEE. Studying IEE offers exceptional opportunity learn about impact host:microbiome interaction previously reviewed Woo Alenghat,26Woo V. Alenghat Host–microbiota interactions: regulation.Curr Opin 44: 52-60Crossref autoimmunity rheumatology Meda al27Meda Folci Baccarelli Selmi autoimmunity.Cell 2011; 8: 226-236Crossref Ballestar Li.28Ballestar Li New insights inflammatory rheumatic diseases.Nat Rheumatol. 13: 593-605Crossref (16) Here, provide relevant grouped type alteration: (a) patterns, (b) profiles, (c) chromatin-remodeling complexes, (d) ncRNA (Fig 1 Table I29Sterlin Velasco Moshous Touzot Mahlaoui N. Fischer al.Genetic, clinical features ICF syndrome: French national survey.J Clin 36: 149-159Crossref (18) 30Heyn Vidal Sayols Sanchez-Mut J.V. Moran Medina I. bisulfite DNMT3B mutant patient.Epigenetics. 7: 542-550Crossref 31Xu G.-L. Bestor T.H. Bourc’his Hsieh C.-L. Tommerup Bugge al.Chromosome instability immunodeficiency syndrome caused methyltransferase gene.Nature. 1999; 402: 187-191Crossref (500) 32Hansen R.S. Wijmenga Luo Stanek A.M. Canfield T.K. Weemaes C.M.R. mutated syndrome.Proc 96: 14412-14417Crossref 33Velasco Walton E.L. Sterlin Hédouin Nitta Ito al.Germline hypomethylation define peripheral patients: implications diagnosis etiology.Orphanet J Rare Dis. 56Crossref 34Jin Tao Q. Peng Soo H.M. Wu Ying al.DNA 3B (DNMT3B) altered aberrant development, neurogenesis function.Hum 690-709Crossref (175) 35Chouery Abou-Ghoch Corbani Ali Korban R. Salem novel deletion ZBTB24 Lebanese family immunodeficiency, centromeric instability, facial anomalies 2.Clin 82: 489-493Crossref 36de Greef J.C. Balog den Dunnen Frants R.R. Straasheijm K.R. al.Mutations 2.Am Hum 88: 796-804Abstract (102) 37Nitta Unoki Ichiyanagi Kosho Shigemura Takahashi al.Three identified Japanese Cape Verdean patients.J 2013; 58: 455-460Crossref (25) 38Licciardi van Boogaard Delle Piane Tovo P.A. Montin EBV-related Hodgkin lymphoma ICF2 patient: EBV susceptibility hallmark subtype?.J 39: 234-236Crossref (1) 39Unoki Funabiki Francastel Sasaki CDCA7 HELLS undermine nonhomologous end joining syndrome.J Invest. 129: 78-92Crossref (20) 40Baets Duan X. Smith Seeley W.W. Mademan al.Defects DNMT1 linked spectrum neurological disorders.Brain. 138: 845-861Crossref (56) 41Winkelmann Lin Schormair Kornum B.R. Faraco Plazzi cause autosomal dominant cerebellar ataxia, deafness narcolepsy.Hum 21: 2205-2210Crossref (157) 42Fox Ealing Murphy Gow D.P. Gosal mutation onset hereditary sensory autonomic neuropathy, cataplexy, atrophy, scleroderma, endocrinopathy, variable deficiency.J Peripher Nerv Syst. 150-153Crossref 43Van Esch Bauters Ignatius Jansen Raynaud Hollanders al.Duplication MECP2 region frequent severe mental retardation progressive symptoms males.Am 2005; 77: 442-453Abstract (453) 44Van duplication syndrome.Mol Syndromol. 2: 128-136PubMed 45Bauer Kölsch Krüger Unterwalder Hameister Kaiser F.M. al.Infectious immunologic 35: 168-181Crossref 46Stremenova Spegarova Lawless Mohamad S.M.B. Engelhardt Doody Shrimpton TET2 loss childhood lymphoma.Blood. 136: 1055-1066Crossref (7) 47Niikawa Matsuura Fukushima Ohsawa Kajii Kabuki make-up retardation, unusual facies, protruding ears, postnatal growth Pediatr. 1981; 99: 565-569Abstract (372) 48Kuroki Suzuki Chyo Hata Matsui malformation long palpebral fissures, depressed nasal tip, skeletal dwarfism retardation.J 570-573Abstract (322) 49Ng S.B. Bigham A.W. Buckingham K.J. Hannibal M.C. McMillin M.J. Gildersleeve H.I. al.Exome identifies MLL2 syndrome.Nat 42: 790-793Crossref (886) 50Banka Veeramachaneni Reardon Howard Bunstone Ragge al.How genetically heterogeneous syndrome? testing 116 patients, review analyses phenotypic spectrum.Eur 381-388Crossref (98) 51Pilarowski G.O. Cazares Zhang Benjamin Liu Jagannathan al.Abnormal Peyer patch gut homing drive IgA deficiency Allergy 145: 982-992Abstract (4) 52Stagi Gulino A.V. Lapi Rigante system: lesson syndrome.Immunol Res. 64: 345-359Crossref (23) 53Lindsley Saal Burrow T.A. Hopkin R.J. Shchelochkov Khandelwal terminal type-1 137: 179-187.e10Abstract (35) 54Margot Boursier Duflos Sanchez Amiel Andrau J.-C. al.Immunopathological manifestations registry study 177 individuals.Genet 22: 181-188Abstract 55Butcher D.T. Cytrynbaum Turinsky Siu M.T. Inbar-Feigenberg Mendoza-Londono al.CHARGE syndromes: gene-specific signatures mechanisms linking clinically overlapping conditions.Am 100: 773-788Abstract 56Lederer Grisart Digilio Benoit Crespin Ghariani S.C. al.Deletion KDM6A, demethylase interacting MLL2, three syndrome.Am 90: 119-124Abstract (226) 57Frans Meyts Devriendt Liston Vermeulen Bossuyt Mild humoral patient X-linked Med Genet Part 170: 801-803Crossref 58Kleefstra Brunner H.G. Oudakker A.R. Nillesen W.M. Magee al.Loss-of-function euchromatin methyl transferase (EHMT1) 9q34 subtelomeric 79: 370-377Abstract (257) 59Willemsen Vulto-van Silfhout A.T. Wissink-Lindhout Bokhoven Philip al.Update Kleefstra 202-212PubMed 60Okur Nees Chung W.K. Krishnan Pulmonary hypertension 9q34.3 microdeletion-associated 176: 1773-1777Crossref 61Battaglia Carey South S.T. Wolf-Hirschhorn update.Am C Semin 169: 216-223Crossref 62Paradowska-Stolarz (WHS) – literature syndrome.Adv Exp 23: 485-489Crossref (19) 63Derar Al-Hassnan Z.N. Al-Owain Monies Abouelhoda Meyer B.F. al.De novo truncating WHSC1 recapitulate Wolf–Hirschhorn (4p16.3 microdeletion) phenotype.Genet 185-188Abstract 64Zollino Lecce Fischetto Murdolo Faravelli Selicorni al.Mapping outside currently accepted WHS critical defining region, WHSCR-2.Am 72: 590-597Abstract (164) 65Nevado Ho K.S. Zollino Blanco Cobaleda Golzio al.International meeting update nosology pathogenic seizures delay.Am 182: 257-267Crossref 66Hanley-Lopez Estabrooks L.L. Stiehm E.R. Antibody 1998; 133: 141-143Abstract (43) 67Jones W.D. Dafou McEntagart Woollard W.J. Elmslie F.V. Holder-Espinasse MLL Wiedemann-Steiner 91: 358-364Abstract (136) 68Stellacci Onesimo Bruselles Pizzi Battaglia Leoni al.Congenital due missense KMT2A.Am 2389-2393Crossref 69Bogaert D.J. Dullaers Kuehn H.S. Leroy B.P. Niemela De Wilde al.Early-onset primary antibody resembling challenges Wiedeman-Steiner Roifman syndromes.Sci Rep. 3702Crossref (15) 70Boerkoel C.F. Takashima John Yan Stankiewicz Rosenbarker al.Mutant remodeling protein SMARCAL1 Schimke immuno-osseous dysplasia.Nat 30: 215-220Crossref (234) 71Marietta Clewing Antalfy B.C. Lucke Najafian Marwedel K.M. Hori al.Schimke dysplasia: clinicopathological correlation.J 122-130Crossref (42) 72Elizondo L.I. Cho Huang loss-of-function 46: 49-59Crossref (34) 73Saraiva J.M. Dinis Resende Faria Gomes Correia A.J. report 25 786-789Crossref 74Baradaran-Heravi Tolhuis Sanyal Morozova Morimoto al.Penetrance biallelic genetic disturbances expression.Hum 2572-2587Crossref (33) 75Boerkoel O’Neill André J.L. Benke P.J. Bogdanoví? Bulla al.Manifestations treatment 14 cases literature.Eur 76Hashimoto Takeuchi Ieshima Takada Kasagi Juvenile immunoosseous dysplasia.Am 1994; 49: 266-269Crossref 77Jongmans M.C.J. CHARGE CHD7 gene.J 43: 306-314Crossref (281) 78Legendre Abadie Attié-Bitach Busa Bonneau al.Phenotype genotype cohort 119 175: 417-430Crossref 79Vissers L.E.L.M. Ravenswaaij C.M.A. Admiraal Hurst de Vries B.B.A. Janssen I.M. member chromodomain 2004; 955-957Crossref (842) 80Lalani S.R. Safiullah Fernbach S.D. Harutyunyan K.G. Thaller Peterson L.E. al.Spectrum 110 individuals genotype-phenotype correlation.Am 78: 303-314Abstract (271) 81Hsu Ma Wilson Curotta Munns review.J Paediatr Child Health. 50: 504-511Crossref (73) 82Hsu Barnes E.H. Hoefsloot Rinne Immunol Pract. 96-103.e2Abstract 83Wong M.T.Y. Lambeck A.J.A. der Burg la Bastide-van Gemert Hogendorf L.A. Ravenswaaij-Arts al.Immune dysfunction children cross-sectional study.PLoS One. 10e0142350Crossref (9) 84Wong Schölvinck immunological aspects.Eur 1451-1459Crossref 85Sanlaville Verloes update.Eur 389-399Crossref (210) 86Kracker Di Virgilio Schwartzentruber Cuenin Forveille Deau M.-C. al.An inherited immunoglobulin class-switch recombination defect INO80 complex.J 135: 998-1007.e6Abstract (22) 87Roscioli Cliffe Bloch D.B. Bell C.G. Mullan Taylor PML nuclear Sp110 hepatic veno-occlusive 38: 620-622Crossref 88Cliffe Suryani Kamsteeg E.-J. Avery Palendira al.Clinical, molecular, findings SP110-associated 130: 735-742.e6Abstract (30) 89Wang Ong Roscioli Church Hepatic (VODI): reported U.S. identification unique Sp110.Clin 102-107Crossref 90Roifman deficiency, spondyloepiphyseal dysplasia retinal dystrophy: syndrome.Clin 55: 103-109Crossref 91Merico Braunschweig Yuen R.K.C. Alexandrova Bates al.Compound heterozygous RNU4ATAC disrupting minor intron splicing.Nat Commun. 6: 8718Crossref (51) 92Gray P.E.A. Sillence Kakakios Is ciliopathy immunodeficiency? Evidence cases.Int Immunogenet. 501-505Crossref (8) 93de McCartney D.L. Woolf Wozencroft cognitive behavioural Intellect Disabil 690-696Crossref (11) 94Heremans Garcia-Perez Turro Schlenner S.M. Casteels Collin megakaryocytes 142: 630-646Abstract 95Fung W.L.A. Butcher N.J. Costain Andrade Boot Chow E.W.C. al.Practical guidelines managing adults 22q11.2 syndrome.Genet 599-609Abstract (116) 96Botto L.D. May Fernhoff P.M. Correa Coleman Rasmussen S.A.

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ژورنال

عنوان ژورنال: The Journal of Allergy and Clinical Immunology

سال: 2021

ISSN: ['1097-6825', '0091-6749', '1085-8725']

DOI: https://doi.org/10.1016/j.jaci.2021.01.035