Human IRGM gene "to be or not to be"

被引：34

作者：

Bekpen, Cemaletin ^{[4
,5
]}

Xavier, Ramnik J. ^{[1
,2
,3
]}

Eichler, Evan E. ^{[4
,5
]}

机构：

[1] Broad Inst MIT & Harvard, Cambridge, MA USA

[2] Harvard Univ, Massachusetts Gen Hosp, Sch Med, Ctr Computat & Integrat Biol, Boston, MA USA

[3] Harvard Univ, Massachusetts Gen Hosp, Sch Med, Gastrointestinal Unit, Boston, MA USA

[4] Howard Hughes Med Inst, Seattle, WA USA

[5] Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA

来源：

SEMINARS IN IMMUNOPATHOLOGY | 2010年 / 32卷 / 04期

关键词：

Human IRGM gene; IRG gene family; Autophagy; Crohn's disease; Innate immunity; Genome-wide association studies; Evolution of IRGM; Death and resurrection of a gene; CROHNS-DISEASE SUSCEPTIBILITY; GENOME-WIDE ASSOCIATION; IFN-GAMMA; ENDOGENOUS RETROVIRUS; TOXOPLASMA-GONDII; P47; GTPASES; INTRACELLULAR PATHOGENS; EVOLUTIONARY HISTORY; ULCERATIVE-COLITIS; RESISTANCE GTPASES;

D O I：

10.1007/s00281-010-0224-x

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

The immunity-related GTPases (IRG proteins) are one of the strongest early resistance systems against intracellular pathogens. The IRG gene family contains 21 copies arranged as tandem gene clusters on two chromosomes in the C57BL/6 mouse genome but has been reduced to only two copies in humans: IRGC and IRGM. IRGC is not involved in immunity, but the human IRGM gene plays a role in autophagy-targeted destruction of Mycobacterium tuberculosis (BCG) and Salmonella typhimurium. Variant IRGM haplotypes have been associated with increased risk for Crohn's disease and correlated with differential expression of IRGM transcripts. This article reviews in detail the studies performed on human samples, in vitro, and in sequence analyses that provide evidence for the unusual evolutionary history of the IRGM locus and the important role of the IRGM gene in autophagy and Crohn's disease in response to pathogenesis.

引用

页码：437 / 444

页数：8

共 68 条

[1] The evolutionary dynamics of human endogenous retroviral families [J].

Bannert, Norbert ;

Kurth, Reinhard .

ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, 2006, 7 :149-173

[2] Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease [J].

Barrett, Jeffrey C. ;

Hansoul, Sarah ;

Nicolae, Dan L. ;

Cho, Judy H. ;

Duerr, Richard H. ;

Rioux, John D. ;

Brant, Steven R. ;

Silverberg, Mark S. ;

Taylor, Kent D. ;

Barmada, M. Michael ;

Bitton, Alain ;

Dassopoulos, Themistocles ;

Datta, Lisa Wu ;

Green, Todd ;

Griffiths, Anne M. ;

Kistner, Emily O. ;

Murtha, Michael T. ;

Regueiro, Miguel D. ;

Rotter, Jerome I. ;

Schumm, L. Philip ;

Steinhart, A. Hillary ;

Targan, Stephan R. ;

Xavier, Ramnik J. ;

Libioulle, Cecile ;

Sandor, Cynthia ;

Lathrop, Mark ;

Belaiche, Jacques ;

Dewit, Olivier ;

Gut, Ivo ;

Heath, Simon ;

Laukens, Debby ;

Mni, Myriam ;

Rutgeerts, Paul ;

Van Gossum, Andre ;

Zelenika, Diana ;

Franchimont, Denis ;

Hugot, Jean-Pierre ;

de Vos, Martine ;

Vermeire, Severine ;

Louis, Edouard ;

Cardon, Lon R. ;

Anderson, Carl A. ;

Drummond, Hazel ;

Nimmo, Elaine ;

Ahmad, Tariq ;

Prescott, Natalie J. ;

Onnie, Clive M. ;

Fisher, Sheila A. ;

Marchini, Jonathan ;

Ghori, Jilur .

NATURE GENETICS, 2008, 40 (08) :955-962

[3] The interferon-inducible p47 (IRG) GTPases in vertebrates: loss of the cell autonomous resistance mechanism in the human lineage [J].

Bekpen, C ;

Hunn, JP ;

Rohde, C ;

Parvanova, I ;

Guethlein, L ;

Dunn, DM ;

Glowalla, E ;

Leptin, M ;

Howard, JC .

GENOME BIOLOGY, 2005, 6 (11)

[4] Death and Resurrection of the Human IRGM Gene [J].

Bekpen, Cemalettin ;

Marques-Bonet, Tomas ;

Alkan, Can ;

Antonacci, Francesca ;

Leogrande, Maria Bruna ;

Ventura, Mario ;

Kidd, Jeffrey M. ;

Siswara, Priscillia ;

Howard, Jonathan C. ;

Eichler, Evan E. .

PLOS GENETICS, 2009, 5 (03)

[5] The p47 GTPases Igtp and Irgb10 map to the Chlamydia trachomatis susceptibility locus Ctrq-3 and mediate cellular resistance in mice [J].

Bernstein-Hanley, Isaac ;

Coers, Jorn ;

Balsara, Zarine R. ;

Taylor, Gregory A. ;

Starnbach, Michael N. ;

Dietrich, William F. .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2006, 103 (38) :14092-14097

[6]

Boehm U, 1998, J IMMUNOL, V161, P6715

[7] A key role for autophagy and the autophagy gene Atg16l1 in mouse and human intestinal Paneth cells [J].

Cadwell, Ken ;

Liu, John Y. ;

Brown, Sarah L. ;

Miyoshi, Hiroyuki ;

Loh, Joy ;

Lennerz, Jochen K. ;

Kishi, Chieko ;

Kc, Wumesh ;

Carrero, Javier A. ;

Hunt, Steven ;

Stone, Christian D. ;

Brunt, Elizabeth M. ;

Xavier, Ramnik J. ;

Sleckman, Barry P. ;

Li, Ellen ;

Mizushima, Noboru ;

Stappenbeck, Thaddeus S. ;

Virgin, Herbert W. .

NATURE, 2008, 456 (7219) :259-U62

[8] The nonsense-mediated decay RNA surveillance pathway [J].

Chang, Yao-Fu ;

Imam, J. Saadi ;

Wilkinson, Miles E. .

ANNUAL REVIEW OF BIOCHEMISTRY, 2007, 76 :51-74

[9] Inactivation of LRG-47 and IRG-47 reveals a family of interferon γ-inducible genes with essential, pathogen-specific roles in resistance to infection [J].

Collazo, CM ;

Yap, GS ;

Sempowski, GD ;

Lusby, KC ;

Tessarollo, L ;

Woude, GFV ;

Sher, A ;

Taylor, GA .

JOURNAL OF EXPERIMENTAL MEDICINE, 2001, 194 (02) :181-187

[10] Nonsense-mediated mRNA decay: molecular insights and mechanistic variations across species [J].

Conti, E ;

Izaurralde, E .

CURRENT OPINION IN CELL BIOLOGY, 2005, 17 (03) :316-325

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