An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation
Myb-Like, SWIRM, and MPN domains 1 (MYSM1) is a metalloprotease that deubiquitinates the K119-monoubiquitinated form of histone 2A (H2A), a chromatin marker associated with gene transcription silencing. Likewise, it has been reported that murine Mysm1 participates in transcription derepression of ge...
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| Published in | Journal of allergy and clinical immunology Vol. 136; no. 6; pp. 1619 - 1626.e5 |
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| Main Authors | , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
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United States
Elsevier Inc
01.12.2015
Elsevier Limited Elsevier |
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| Abstract | Myb-Like, SWIRM, and MPN domains 1 (MYSM1) is a metalloprotease that deubiquitinates the K119-monoubiquitinated form of histone 2A (H2A), a chromatin marker associated with gene transcription silencing. Likewise, it has been reported that murine Mysm1 participates in transcription derepression of genes, among which are transcription factors involved in hematopoietic stem cell homeostasis, hematopoiesis, and lymphocyte differentiation. However, whether MYSM1 has a similar function in human subjects remains unclear. Here we describe a patient presenting with a complete lack of B lymphocytes, T-cell lymphopenia, defective hematopoiesis, and developmental abnormalities.
We sought to characterize the underlying genetic cause of this syndrome.
We performed genome-wide homozygosity mapping, followed by whole-exome sequencing.
Genetic analysis revealed that this novel disorder is caused by a homozygous MYSM1 missense mutation affecting the catalytic site within the deubiquitinase JAB1/MPN/Mov34 (JAMM)/MPN domain. Remarkably, during the course of our study, the patient recovered a normal immunohematologic phenotype. Genetic analysis indicated that this improvement originated from a spontaneous genetic reversion of the MYSM1 mutation in a hematopoietic stem cell.
We here define a novel human immunodeficiency and provide evidence that MYSM1 is essential for proper immunohematopoietic development in human subjects. In addition, we describe one of the few examples of spontaneous in vivo genetic cure of a human immunodeficiency. |
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| AbstractList | Myb-Like, SWIRM, and MPN domains 1 (MYSM1) is a metalloprotease that deubiquitinates the K119-monoubiquitinated form of histone 2A (H2A), a chromatin marker associated with gene transcription silencing. Likewise, it has been reported that murine Mysm1 participates in transcription derepression of genes, among which are transcription factors involved in hematopoietic stem cell homeostasis, hematopoiesis, and lymphocyte differentiation. However, whether MYSM1 has a similar function in human subjects remains unclear. Here we describe a patient presenting with a complete lack of B lymphocytes, T-cell lymphopenia, defective hematopoiesis, and developmental abnormalities.
We sought to characterize the underlying genetic cause of this syndrome.
We performed genome-wide homozygosity mapping, followed by whole-exome sequencing.
Genetic analysis revealed that this novel disorder is caused by a homozygous MYSM1 missense mutation affecting the catalytic site within the deubiquitinase JAB1/MPN/Mov34 (JAMM)/MPN domain. Remarkably, during the course of our study, the patient recovered a normal immunohematologic phenotype. Genetic analysis indicated that this improvement originated from a spontaneous genetic reversion of the MYSM1 mutation in a hematopoietic stem cell.
We here define a novel human immunodeficiency and provide evidence that MYSM1 is essential for proper immunohematopoietic development in human subjects. In addition, we describe one of the few examples of spontaneous in vivo genetic cure of a human immunodeficiency. Myb-Like, SWIRM, and MPN domains 1 (MYSM1) is a metalloprotease that deubiquitinates the K119-monoubiquitinated form of histone 2A (H2A), a chromatin marker associated with gene transcription silencing. Likewise, it has been reported that murine Mysm1 participates in transcription derepression of genes, among which are transcription factors involved in hematopoietic stem cell homeostasis, hematopoiesis, and lymphocyte differentiation. However, whether MYSM1 has a similar function in human subjects remains unclear. Here we describe a patient presenting with a complete lack of B lymphocytes, T-cell lymphopenia, defective hematopoiesis, and developmental abnormalities. We sought to characterize the underlying genetic cause of this syndrome. We performed genome-wide homozygosity mapping, followed by whole-exome sequencing. Genetic analysis revealed that this novel disorder is caused by a homozygous MYSM1 missense mutation affecting the catalytic site within the deubiquitinase JAB1/MPN/Mov34 (JAMM)/MPN domain. Remarkably, during the course of our study, the patient recovered a normal immunohematologic phenotype. Genetic analysis indicated that this improvement originated from a spontaneous genetic reversion of the MYSM1 mutation in a hematopoietic stem cell. We here define a novel human immunodeficiency and provide evidence that MYSM1 is essential for proper immunohematopoietic development in human subjects. In addition, we describe one of the few examples of spontaneous in vivo genetic cure of a human immunodeficiency. Background Myb-Like, SWIRM, and MPN domains 1 (MYSM1) is a metalloprotease that deubiquitinates the K119-monoubiquitinated form of histone 2A (H2A), a chromatin marker associated with gene transcription silencing. Likewise, it has been reported that murine Mysm1 participates in transcription derepression of genes, among which are transcription factors involved in hematopoietic stem cell homeostasis, hematopoiesis, and lymphocyte differentiation. However, whether MYSM1 has a similar function in human subjects remains unclear. Here we describe a patient presenting with a complete lack of B lymphocytes, T-cell lymphopenia, defective hematopoiesis, and developmental abnormalities. Objectives We sought to characterize the underlying genetic cause of this syndrome. Methods We performed genome-wide homozygosity mapping, followed by whole-exome sequencing. Results Genetic analysis revealed that this novel disorder is caused by a homozygousMYSM1missense mutation affecting the catalytic site within the deubiquitinase JAB1/MPN/Mov34 (JAMM)/MPN domain. Remarkably, during the course of our study, the patient recovered a normal immunohematologic phenotype. Genetic analysis indicated that this improvement originated from a spontaneous genetic reversion of theMYSM1mutation in a hematopoietic stem cell. Conclusions We here define a novel human immunodeficiency and provide evidence that MYSM1 is essential for proper immunohematopoietic development in human subjects. In addition, we describe one of the few examples of spontaneousin vivogenetic cure of a human immunodeficiency. BACKGROUNDMyb-Like, SWIRM, and MPN domains 1 (MYSM1) is a metalloprotease that deubiquitinates the K119-monoubiquitinated form of histone 2A (H2A), a chromatin marker associated with gene transcription silencing. Likewise, it has been reported that murine Mysm1 participates in transcription derepression of genes, among which are transcription factors involved in hematopoietic stem cell homeostasis, hematopoiesis, and lymphocyte differentiation. However, whether MYSM1 has a similar function in human subjects remains unclear. Here we describe a patient presenting with a complete lack of B lymphocytes, T-cell lymphopenia, defective hematopoiesis, and developmental abnormalities.OBJECTIVESWe sought to characterize the underlying genetic cause of this syndrome.METHODSWe performed genome-wide homozygosity mapping, followed by whole-exome sequencing.RESULTSGenetic analysis revealed that this novel disorder is caused by a homozygous MYSM1 missense mutation affecting the catalytic site within the deubiquitinase JAB1/MPN/Mov34 (JAMM)/MPN domain. Remarkably, during the course of our study, the patient recovered a normal immunohematologic phenotype. Genetic analysis indicated that this improvement originated from a spontaneous genetic reversion of the MYSM1 mutation in a hematopoietic stem cell.CONCLUSIONSWe here define a novel human immunodeficiency and provide evidence that MYSM1 is essential for proper immunohematopoietic development in human subjects. In addition, we describe one of the few examples of spontaneous in vivo genetic cure of a human immunodeficiency. Background Myb-Like, SWIRM, and MPN domains 1 (MYSM1) is a metalloprotease that deubiquitinates the K119-monoubiquitinated form of histone 2A (H2A), a chromatin marker associated with gene transcription silencing. Likewise, it has been reported that murine Mysm1 participates in transcription derepression of genes, among which are transcription factors involved in hematopoietic stem cell homeostasis, hematopoiesis, and lymphocyte differentiation. However, whether MYSM1 has a similar function in human subjects remains unclear. Here we describe a patient presenting with a complete lack of B lymphocytes, T-cell lymphopenia, defective hematopoiesis, and developmental abnormalities. Objectives We sought to characterize the underlying genetic cause of this syndrome. Methods We performed genome-wide homozygosity mapping, followed by whole-exome sequencing. Results Genetic analysis revealed that this novel disorder is caused by a homozygous MYSM1 missense mutation affecting the catalytic site within the deubiquitinase JAB1/MPN/Mov34 (JAMM)/MPN domain. Remarkably, during the course of our study, the patient recovered a normal immunohematologic phenotype. Genetic analysis indicated that this improvement originated from a spontaneous genetic reversion of the MYSM1 mutation in a hematopoietic stem cell. Conclusions We here define a novel human immunodeficiency and provide evidence that MYSM1 is essential for proper immunohematopoietic development in human subjects. In addition, we describe one of the few examples of spontaneous in vivo genetic cure of a human immunodeficiency. Background Myb-Like, SWIRM, and MPN domains 1 (MYSM1) is a metalloprotease that deubiquitinates the K119-monoubiquitinated form of histone 2A (H2A), a chromatin marker associated with gene transcription silencing. Likewise, it has been reported that murine Mysm1 participates in transcription derepression of genes, among which are transcription factors involved in hematopoietic stem cell homeostasis, hematopoiesis, and lymphocyte differentiation. However, whether MYSM1 has a similar function in human subjects remains unclear. Here we describe a patient presenting with a complete lack of B lymphocytes, T-cell lymphopenia, defective hematopoiesis, and developmental abnormalities. Objectives We sought to characterize the underlying genetic cause of this syndrome. Methods We performed genome-wide homozygosity mapping, followed by whole-exome sequencing. Results Genetic analysis revealed that this novel disorder is caused by a homozygous MYSM1 missense mutation affecting the catalytic site within the deubiquitinase JAB1/MPN/Mov34 (JAMM)/MPN domain. Remarkably, during the course of our study, the patient recovered a normal immunohematologic phenotype. Genetic analysis indicated that this improvement originated from a spontaneous genetic reversion of the MYSM1 mutation in a hematopoietic stem cell. Conclusions We here define a novel human immunodeficiency and provide evidence that MYSM1 is essential for proper immunohematopoietic development in human subjects. In addition, we describe one of the few examples of spontaneous in vivo genetic cure of a human immunodeficiency. Myb-Like, SWIRM, and MPN domains 1(MYSM1) is a metalloprotease that deubiquitinates the K119-monoubiquitinated form of histone 2A (H2A), a chromatinmarker associated with gene transcription silencing. Likewise, ithas been reported that murine Mysm1 participates intranscription derepression of genes, among which aretranscription factors involved in hematopoietic stem cellhomeostasis, hematopoiesis, and lymphocyte differentiation.However, whether MYSM1 has a similar function in humansubjects remains unclear. Here we describe a patient presentingwith a complete lack of B lymphocytes, T-cell lymphopenia,defective hematopoiesis, and developmental abnormalities.Objectives: We sought to characterize the underlying geneticcause of this syndrome.Methods: We performed genome-wide homozygosity mapping,followed by whole-exome sequencing.Results: Genetic analysis revealed that this novel disorder iscaused by a homozygous MYSM1 missense mutation affectingthe catalytic site within the deubiquitinase JAB1/MPN/Mov34(JAMM)/MPN domain. Remarkably, during the course of ourstudy, the patient recovered a normal immunohematologicphenotype. Genetic analysis indicated that this improvementoriginated from a spontaneous genetic reversion of the MYSM1mutation in a hematopoietic stem cell.Conclusions: We here define a novel human immunodeficiencyand provide evidence that MYSM1 is essential for properimmunohematopoietic development in human subjects. Inaddition, we describe one of the few examples of spontaneousin vivo genetic cure of a human immunodeficiency. |
| Author | Le Guen, Tangui France, Benoit Carpentier, Wassila André-Schmutz, Isabelle Lambert, Nathalie Cavazzana, Marina de Villartay, Jean-Pierre Callebaut, Isabelle Kermasson, Laetitia Revy, Patrick Soulier, Jean Touzot, Fabien Fischer, Alain Nitschke, Patrick Jabado, Nada Lagresle-Peyrou, Chantal Bole-Feysot, Christine Picard, Capucine Lim, Annick |
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| Cites_doi | 10.1182/blood-2011-05-352666 10.1016/j.molcel.2007.07.024 10.1146/annurev.genet.032608.103928 10.1182/blood-2013-03-489641 10.1186/1471-2091-3-28 10.1073/pnas.051609898 10.1038/nature07254 10.1182/blood-2013-09-527127 10.1182/blood-2013-10-534313 10.1073/pnas.90.9.4319 10.1016/j.immuni.2011.11.010 10.1073/pnas.1308888110 10.1073/pnas.97.1.274 10.1136/jmg.40.10.721 10.1084/jem.20140520 10.1159/000069805 10.1016/j.stem.2012.05.013 10.1093/intimm/dxm125 10.1038/cdd.2014.231 10.1016/j.jaci.2011.09.043 10.1038/ncb3028 10.1056/NEJM199611213352104 10.1002/prot.21688 10.1007/s004390000447 10.1182/blood-2012-04-426833 10.1016/j.cell.2015.01.014 10.1038/ng.2892 10.1016/j.cell.2005.12.030 10.1016/j.stem.2012.01.006 10.1038/11956 10.1038/nature05875 |
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| Copyright | 2015 American Academy of Allergy, Asthma & Immunology American Academy of Allergy, Asthma & Immunology Copyright © 2015 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved. Copyright Elsevier Limited Dec 2015 Distributed under a Creative Commons Attribution 4.0 International License |
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| References | Gatzka, Tasdogan, Hainzl, Allies, Maity, Wilms (bib8) 2015 Jan 23 Jiang, Nguyen, Chou, Wang, Nandakumar, Yates (bib3) 2011; 35 Gregory, Wagner, Verlander, Levran, Batish, Eide (bib20) 2001; 98 Stephan, Wahn, Le Deist, Dirksen, Broker, Muller-Fleckenstein (bib25) 1996; 335 Alsultan, Shamseldin, Osman, Aljabri, Alkuraya (bib9) 2013; 122 Campos, Reinberg (bib1) 2009; 43 Wang, Nandakumar, Jiang, Jones, Yang, Huang (bib5) 2013; 122 Bousso, Wahn, Douagi, Horneff, Pannetier, Le Deist (bib24) 2000; 97 Zhu, Zhou, Wang, Puc, Ohgi, Erdjument-Bromage (bib4) 2007; 27 Sato, Yoshikawa, Yamagata, Mimura, Yamashita, Ookata (bib16) 2008; 455 Nishi, Wijnhoven, le Sage, Tjeertes, Galanty, Forment (bib29) 2014; 16 Hirschhorn (bib22) 2003; 40 Doulatov, Notta, Laurenti, Dick (bib13) 2012; 10 Buck, Malivert, de Chasseval, Barraud, Fondaneche, Sanal (bib11) 2006; 124 Waisfisz, Morgan, Savino, de Winter, van Berkel, Hoatlin (bib21) 1999; 22 Won, Nandakumar, Yates, Sanchez, Jones, Huang (bib7) 2014; 124 Touzot, Gaillard, Vasquez, Le Guen, Bertrand, Bourhis (bib12) 2012; 129 Ceccaldi, Parmar, Mouly, Delord, Kim, Regairaz (bib28) 2012; 11 Touzot, Dal-Cortivo, Verkarre, Lim, Crucis-Armengaud, Moshous (bib18) 2012; 120 Bennett-Lovsey, Herbert, Sternberg, Kelley (bib15) 2008; 70 Kircher, Witten, Jain, O'Roak, Cooper, Shendure (bib17) 2014; 46 Ellis, Ciocci, German (bib23) 2001; 108 Casanova, Conley, Seligman, Abel, Notarangelo (bib10) 2014; 211 Nijnik, Clare, Hale, Raisen, McIntyre, Yusa (bib2) 2012; 119 Gross, Hanenberg, Lobitz, Friedl, Herterich, Dietrich (bib19) 2002; 98 McDermott, Gao, Liu, Siwicki, Martens, Jacobs (bib26) 2015; 160 Nijnik, Woodbine, Marchetti, Dawson, Lambe, Liu (bib27) 2007; 447 Nandakumar, Chou, Zang, Huang, Chen (bib6) 2013; 110 Maytal-Kivity, Reis, Hofmann, Glickman (bib14) 2002; 3 McDermott (10.1016/j.jaci.2015.06.008_bib26) 2015; 160 Ceccaldi (10.1016/j.jaci.2015.06.008_bib28) 2012; 11 Bennett-Lovsey (10.1016/j.jaci.2015.06.008_bib15) 2008; 70 Ellis (10.1016/j.jaci.2015.06.008_bib23) 2001; 108 Touzot (10.1016/j.jaci.2015.06.008_bib12) 2012; 129 Gregory (10.1016/j.jaci.2015.06.008_bib20) 2001; 98 Nijnik (10.1016/j.jaci.2015.06.008_bib2) 2012; 119 Wang (10.1016/j.jaci.2015.06.008_bib5) 2013; 122 Alsultan (10.1016/j.jaci.2015.06.008_bib9) 2013; 122 Won (10.1016/j.jaci.2015.06.008_bib7) 2014; 124 Nijnik (10.1016/j.jaci.2015.06.008_bib27) 2007; 447 Campos (10.1016/j.jaci.2015.06.008_bib1) 2009; 43 Bousso (10.1016/j.jaci.2015.06.008_bib24) 2000; 97 Doulatov (10.1016/j.jaci.2015.06.008_bib13) 2012; 10 Nishi (10.1016/j.jaci.2015.06.008_bib29) 2014; 16 Gross (10.1016/j.jaci.2015.06.008_bib19) 2002; 98 Gatzka (10.1016/j.jaci.2015.06.008_bib8) 2015 Sato (10.1016/j.jaci.2015.06.008_bib16) 2008; 455 Maytal-Kivity (10.1016/j.jaci.2015.06.008_bib14) 2002; 3 Casanova (10.1016/j.jaci.2015.06.008_bib10) 2014; 211 Lim (10.1016/j.jaci.2015.06.008_bibE2) 2008; 20 Jiang (10.1016/j.jaci.2015.06.008_bib3) 2011; 35 Kircher (10.1016/j.jaci.2015.06.008_bib17) 2014; 46 Hirschhorn (10.1016/j.jaci.2015.06.008_bib22) 2003; 40 Nandakumar (10.1016/j.jaci.2015.06.008_bib6) 2013; 110 Zhu (10.1016/j.jaci.2015.06.008_bib4) 2007; 27 Pannetier (10.1016/j.jaci.2015.06.008_bibE1) 1993; 90 Stephan (10.1016/j.jaci.2015.06.008_bib25) 1996; 335 Waisfisz (10.1016/j.jaci.2015.06.008_bib21) 1999; 22 Buck (10.1016/j.jaci.2015.06.008_bib11) 2006; 124 Touzot (10.1016/j.jaci.2015.06.008_bib18) 2012; 120 |
| References_xml | – volume: 10 start-page: 120 year: 2012 end-page: 136 ident: bib13 article-title: Hematopoiesis: a human perspective publication-title: Cell Stem Cell – volume: 119 start-page: 1370 year: 2012 end-page: 1379 ident: bib2 article-title: The critical role of histone H2A-deubiquitinase Mysm1 in hematopoiesis and lymphocyte differentiation publication-title: Blood – volume: 122 start-page: 3844 year: 2013 end-page: 3845 ident: bib9 article-title: MYSM1 is mutated in a family with transient transfusion-dependent anemia, mild thrombocytopenia, and low NK- and B-cell counts publication-title: Blood – volume: 35 start-page: 883 year: 2011 end-page: 896 ident: bib3 article-title: Control of B cell development by the histone H2A deubiquitinase MYSM1 publication-title: Immunity – volume: 98 start-page: 126 year: 2002 end-page: 135 ident: bib19 article-title: Reverse mosaicism in Fanconi anemia: natural gene therapy via molecular self-correction publication-title: Cytogenet Genome Res – volume: 97 start-page: 274 year: 2000 end-page: 278 ident: bib24 article-title: Diversity, functionality, and stability of the T cell repertoire derived in vivo from a single human T cell precursor publication-title: Proc Natl Acad Sci U S A – volume: 122 start-page: 2812 year: 2013 end-page: 2822 ident: bib5 article-title: The control of hematopoietic stem cell maintenance, self-renewal and differentiation by Mysm1-mediated epigenetic regulation publication-title: Blood – volume: 124 start-page: 287 year: 2006 end-page: 299 ident: bib11 article-title: Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly publication-title: Cell – volume: 455 start-page: 358 year: 2008 end-page: 362 ident: bib16 article-title: Structural basis for specific cleavage of Lys 63-linked polyubiquitin chains publication-title: Nature – volume: 46 start-page: 310 year: 2014 end-page: 315 ident: bib17 article-title: A general framework for estimating the relative pathogenicity of human genetic variants publication-title: Nat Genet – volume: 11 start-page: 36 year: 2012 end-page: 49 ident: bib28 article-title: Bone marrow failure in Fanconi anemia is triggered by an exacerbated p53/p21 DNA damage response that impairs hematopoietic stem and progenitor cells publication-title: Cell Stem Cell – volume: 120 start-page: 1957 year: 2012 end-page: 1959 ident: bib18 article-title: Massive expansion of maternal T cells in response to EBV infection in a patient with SCID-Xl publication-title: Blood – volume: 40 start-page: 721 year: 2003 end-page: 728 ident: bib22 article-title: In vivo reversion to normal of inherited mutations in humans publication-title: J Med Genet – volume: 335 start-page: 1563 year: 1996 end-page: 1567 ident: bib25 article-title: Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells publication-title: N Engl J Med – volume: 27 start-page: 609 year: 2007 end-page: 621 ident: bib4 article-title: A histone H2A deubiquitinase complex coordinating histone acetylation and H1 dissociation in transcriptional regulation publication-title: Mol Cell – volume: 3 start-page: 28 year: 2002 ident: bib14 article-title: MPN+, a putative catalytic motif found in a subset of MPN domain proteins from eukaryotes and prokaryotes, is critical for Rpn11 function publication-title: BMC Biochem – volume: 22 start-page: 379 year: 1999 end-page: 383 ident: bib21 article-title: Spontaneous functional correction of homozygous fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism publication-title: Nat Genet – volume: 129 start-page: 473 year: 2012 end-page: 482 ident: bib12 article-title: Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita publication-title: J Allergy Clin Immunol – volume: 98 start-page: 2532 year: 2001 end-page: 2537 ident: bib20 article-title: Somatic mosaicism in Fanconi anemia: evidence of genotypic reversion in lymphohematopoietic stem cells publication-title: Proc Natl Acad Sci U S A – volume: 160 start-page: 686 year: 2015 end-page: 699 ident: bib26 article-title: Chromothriptic cure of WHIM syndrome publication-title: Cell – volume: 108 start-page: 167 year: 2001 end-page: 173 ident: bib23 article-title: Back mutation can produce phenotype reversion in Bloom syndrome somatic cells publication-title: Hum Genet – volume: 211 start-page: 2137 year: 2014 end-page: 2149 ident: bib10 article-title: Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies publication-title: J Exp Med – volume: 110 start-page: E3927 year: 2013 end-page: E3936 ident: bib6 article-title: Epigenetic control of natural killer cell maturation by histone H2A deubiquitinase, MYSM1 publication-title: Proc Natl Acad Sci U S A – volume: 16 start-page: 1016 year: 2014 end-page: 1026 ident: bib29 article-title: Systematic characterization of deubiquitylating enzymes for roles in maintaining genome integrity publication-title: Nat Cell Biol – year: 2015 Jan 23 ident: bib8 article-title: Interplay of H2A deubiquitinase 2A-DUB/Mysm1 and the p19/p53 axis in hematopoiesis, early T-cell development and tissue differentiation publication-title: Cell Death Differ – volume: 124 start-page: 2647 year: 2014 end-page: 2656 ident: bib7 article-title: Epigenetic control of dendritic cell development and fate determination of common myeloid progenitor by Mysm1 publication-title: Blood – volume: 43 start-page: 559 year: 2009 end-page: 599 ident: bib1 article-title: Histones: annotating chromatin publication-title: Annu Rev Genet – volume: 447 start-page: 686 year: 2007 end-page: 690 ident: bib27 article-title: DNA repair is limiting for haematopoietic stem cells during ageing publication-title: Nature – volume: 70 start-page: 611 year: 2008 end-page: 625 ident: bib15 article-title: Exploring the extremes of sequence/structure space with ensemble fold recognition in the program Phyre publication-title: Proteins – volume: 119 start-page: 1370 year: 2012 ident: 10.1016/j.jaci.2015.06.008_bib2 article-title: The critical role of histone H2A-deubiquitinase Mysm1 in hematopoiesis and lymphocyte differentiation publication-title: Blood doi: 10.1182/blood-2011-05-352666 – volume: 27 start-page: 609 year: 2007 ident: 10.1016/j.jaci.2015.06.008_bib4 article-title: A histone H2A deubiquitinase complex coordinating histone acetylation and H1 dissociation in transcriptional regulation publication-title: Mol Cell doi: 10.1016/j.molcel.2007.07.024 – volume: 43 start-page: 559 year: 2009 ident: 10.1016/j.jaci.2015.06.008_bib1 article-title: Histones: annotating chromatin publication-title: Annu Rev Genet doi: 10.1146/annurev.genet.032608.103928 – volume: 122 start-page: 2812 year: 2013 ident: 10.1016/j.jaci.2015.06.008_bib5 article-title: The control of hematopoietic stem cell maintenance, self-renewal and differentiation by Mysm1-mediated epigenetic regulation publication-title: Blood doi: 10.1182/blood-2013-03-489641 – volume: 3 start-page: 28 year: 2002 ident: 10.1016/j.jaci.2015.06.008_bib14 article-title: MPN+, a putative catalytic motif found in a subset of MPN domain proteins from eukaryotes and prokaryotes, is critical for Rpn11 function publication-title: BMC Biochem doi: 10.1186/1471-2091-3-28 – volume: 98 start-page: 2532 year: 2001 ident: 10.1016/j.jaci.2015.06.008_bib20 article-title: Somatic mosaicism in Fanconi anemia: evidence of genotypic reversion in lymphohematopoietic stem cells publication-title: Proc Natl Acad Sci U S A doi: 10.1073/pnas.051609898 – volume: 455 start-page: 358 year: 2008 ident: 10.1016/j.jaci.2015.06.008_bib16 article-title: Structural basis for specific cleavage of Lys 63-linked polyubiquitin chains publication-title: Nature doi: 10.1038/nature07254 – volume: 122 start-page: 3844 year: 2013 ident: 10.1016/j.jaci.2015.06.008_bib9 article-title: MYSM1 is mutated in a family with transient transfusion-dependent anemia, mild thrombocytopenia, and low NK- and B-cell counts publication-title: Blood doi: 10.1182/blood-2013-09-527127 – volume: 124 start-page: 2647 year: 2014 ident: 10.1016/j.jaci.2015.06.008_bib7 article-title: Epigenetic control of dendritic cell development and fate determination of common myeloid progenitor by Mysm1 publication-title: Blood doi: 10.1182/blood-2013-10-534313 – volume: 90 start-page: 4319 year: 1993 ident: 10.1016/j.jaci.2015.06.008_bibE1 article-title: The sizes of the CDR3 hypervariable regions of the murine T-cell receptor beta chains vary as a function of the recombined germ-line segments publication-title: Proc Natl Acad Sci U S A doi: 10.1073/pnas.90.9.4319 – volume: 35 start-page: 883 year: 2011 ident: 10.1016/j.jaci.2015.06.008_bib3 article-title: Control of B cell development by the histone H2A deubiquitinase MYSM1 publication-title: Immunity doi: 10.1016/j.immuni.2011.11.010 – volume: 110 start-page: E3927 year: 2013 ident: 10.1016/j.jaci.2015.06.008_bib6 article-title: Epigenetic control of natural killer cell maturation by histone H2A deubiquitinase, MYSM1 publication-title: Proc Natl Acad Sci U S A doi: 10.1073/pnas.1308888110 – volume: 97 start-page: 274 year: 2000 ident: 10.1016/j.jaci.2015.06.008_bib24 article-title: Diversity, functionality, and stability of the T cell repertoire derived in vivo from a single human T cell precursor publication-title: Proc Natl Acad Sci U S A doi: 10.1073/pnas.97.1.274 – volume: 40 start-page: 721 year: 2003 ident: 10.1016/j.jaci.2015.06.008_bib22 article-title: In vivo reversion to normal of inherited mutations in humans publication-title: J Med Genet doi: 10.1136/jmg.40.10.721 – volume: 211 start-page: 2137 year: 2014 ident: 10.1016/j.jaci.2015.06.008_bib10 article-title: Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies publication-title: J Exp Med doi: 10.1084/jem.20140520 – volume: 98 start-page: 126 year: 2002 ident: 10.1016/j.jaci.2015.06.008_bib19 article-title: Reverse mosaicism in Fanconi anemia: natural gene therapy via molecular self-correction publication-title: Cytogenet Genome Res doi: 10.1159/000069805 – volume: 11 start-page: 36 year: 2012 ident: 10.1016/j.jaci.2015.06.008_bib28 article-title: Bone marrow failure in Fanconi anemia is triggered by an exacerbated p53/p21 DNA damage response that impairs hematopoietic stem and progenitor cells publication-title: Cell Stem Cell doi: 10.1016/j.stem.2012.05.013 – volume: 20 start-page: 105 year: 2008 ident: 10.1016/j.jaci.2015.06.008_bibE2 article-title: Many human peripheral VH5-expressing IgM+ B cells display a unique heavy-chain rearrangement publication-title: Int Immunol doi: 10.1093/intimm/dxm125 – year: 2015 ident: 10.1016/j.jaci.2015.06.008_bib8 article-title: Interplay of H2A deubiquitinase 2A-DUB/Mysm1 and the p19/p53 axis in hematopoiesis, early T-cell development and tissue differentiation publication-title: Cell Death Differ doi: 10.1038/cdd.2014.231 – volume: 129 start-page: 473 year: 2012 ident: 10.1016/j.jaci.2015.06.008_bib12 article-title: Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2011.09.043 – volume: 16 start-page: 1016 year: 2014 ident: 10.1016/j.jaci.2015.06.008_bib29 article-title: Systematic characterization of deubiquitylating enzymes for roles in maintaining genome integrity publication-title: Nat Cell Biol doi: 10.1038/ncb3028 – volume: 335 start-page: 1563 year: 1996 ident: 10.1016/j.jaci.2015.06.008_bib25 article-title: Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells publication-title: N Engl J Med doi: 10.1056/NEJM199611213352104 – volume: 70 start-page: 611 year: 2008 ident: 10.1016/j.jaci.2015.06.008_bib15 article-title: Exploring the extremes of sequence/structure space with ensemble fold recognition in the program Phyre publication-title: Proteins doi: 10.1002/prot.21688 – volume: 108 start-page: 167 year: 2001 ident: 10.1016/j.jaci.2015.06.008_bib23 article-title: Back mutation can produce phenotype reversion in Bloom syndrome somatic cells publication-title: Hum Genet doi: 10.1007/s004390000447 – volume: 120 start-page: 1957 year: 2012 ident: 10.1016/j.jaci.2015.06.008_bib18 article-title: Massive expansion of maternal T cells in response to EBV infection in a patient with SCID-Xl publication-title: Blood doi: 10.1182/blood-2012-04-426833 – volume: 160 start-page: 686 year: 2015 ident: 10.1016/j.jaci.2015.06.008_bib26 article-title: Chromothriptic cure of WHIM syndrome publication-title: Cell doi: 10.1016/j.cell.2015.01.014 – volume: 46 start-page: 310 year: 2014 ident: 10.1016/j.jaci.2015.06.008_bib17 article-title: A general framework for estimating the relative pathogenicity of human genetic variants publication-title: Nat Genet doi: 10.1038/ng.2892 – volume: 124 start-page: 287 year: 2006 ident: 10.1016/j.jaci.2015.06.008_bib11 article-title: Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly publication-title: Cell doi: 10.1016/j.cell.2005.12.030 – volume: 10 start-page: 120 year: 2012 ident: 10.1016/j.jaci.2015.06.008_bib13 article-title: Hematopoiesis: a human perspective publication-title: Cell Stem Cell doi: 10.1016/j.stem.2012.01.006 – volume: 22 start-page: 379 year: 1999 ident: 10.1016/j.jaci.2015.06.008_bib21 article-title: Spontaneous functional correction of homozygous fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism publication-title: Nat Genet doi: 10.1038/11956 – volume: 447 start-page: 686 year: 2007 ident: 10.1016/j.jaci.2015.06.008_bib27 article-title: DNA repair is limiting for haematopoietic stem cells during ageing publication-title: Nature doi: 10.1038/nature05875 |
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| Snippet | Myb-Like, SWIRM, and MPN domains 1 (MYSM1) is a metalloprotease that deubiquitinates the K119-monoubiquitinated form of histone 2A (H2A), a chromatin marker... Background Myb-Like, SWIRM, and MPN domains 1 (MYSM1) is a metalloprotease that deubiquitinates the K119-monoubiquitinated form of histone 2A (H2A), a... BACKGROUNDMyb-Like, SWIRM, and MPN domains 1 (MYSM1) is a metalloprotease that deubiquitinates the K119-monoubiquitinated form of histone 2A (H2A), a chromatin... Myb-Like, SWIRM, and MPN domains 1(MYSM1) is a metalloprotease that deubiquitinates the K119-monoubiquitinated form of histone 2A (H2A), a chromatinmarker... |
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| SubjectTerms | Allergy and Immunology B-Lymphocytes - cytology Bone marrow Cell Differentiation Deoxyribonucleic acid DNA DNA methylation DNA-Binding Proteins - genetics Epigenetics Gene expression genetic reversion Genomes Hematopoiesis Hematopoiesis - genetics histone deubiquitinase Humans immunodeficiency Immunoglobulins Immunologic Deficiency Syndromes - genetics Infant Life Sciences Lymphocytes Lymphopenia - genetics Male Mutation MYSM1 Proteins Quality Software T-Lymphocytes - cytology Thermal cycling Transcription Factors - genetics |
| Title | An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation |
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