A synonymous variant in IRGM alters a binding site for miR-196 and causes deregulation of IRGM-dependent xenophagy in Crohn's disease

Nature Genetics

Volumn 43, Issue 3, 2011, Pages 242-245

  Brest, Patrick ^a,b   Lapaquette, Pierre ^c,d   Souidi, Mouloud ^e,f   Lebrigand, Kevin ^b,g   Cesaro, Annabelle ^a,b   Vouret Craviari, Valérie ^a,b   Mari, Bernard ^b,g   Barbry, Pascal ^b,g   Mosnier, Jean François ^a   Hébuterne, Xavier ^a,b,h   Harel Bellan, Annick ^e,f   Mograbi, Baharia ^a,b   Darfeuille Michaud, Arlette ^c,d,i   Hofman, Paul ^a,b,i  

^a UNIVERSITÉ DE NANTES   (France)

^b UNIVERSITÉ CÔTE D'AZUR   (France)

^c UNIVERSITÉ CLERMONT AUVERGNE   (France)

^d CEMAGREF   (France)

^e UNIVERSITÉ PARIS SACLAY   (France)

^f CNRS   (France)

^g INSTITUT DE PHARMACOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^h CENTRE HOSPITALIER UNIVERSITAIRE DE NICE   (France)

ⁱ PASTEUR HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GUANOSINE TRIPHOSPHATASE; IMMUNITY RELATED GUANOSINE TRIPHOSPHATASE FAMILY M PROTEIN; MICRORNA; MIR 196; UNCLASSIFIED DRUG;

ALLELE; AUTOPHAGY; BINDING SITE; CELL DIVISION; CROHN DISEASE; DISEASE ASSOCIATION; DNA POLYMORPHISM; ESCHERICHIA COLI; GENE EXPRESSION; GENETIC REGULATION; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; PRIORITY JOURNAL; RECEPTOR DOWN REGULATION; REVIEW; RNA BINDING;

AUTOPHAGY; BINDING SITES; CROHN DISEASE; GENE EXPRESSION REGULATION; GTP-BINDING PROTEINS; HEK293 CELLS; HELA CELLS; HUMANS; INTESTINES; MICRORNAS; POLYMORPHISM, SINGLE NUCLEOTIDE;

ESCHERICHIA COLI;

EID: 79952134938     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.762     Document Type: Review

References (24)

1. McCarroll, S.A. et al. Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease. Nat. Genet. 40, 1107-1112 (2008).
2. Prescott, N.J. et al. Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease. Hum. Mol. Genet. 19, 1828-1839 (2010).
3. Bekpen, C. et al. Death and resurrection of the human IRGM gene. PLoS Genet. 5, e1000403 (2009).
4. Parkes, M. et al. Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility. Nat. Genet. 39, 830-832 (2007). (Pubitemid 47014496)
5. Brest, P. et al. Autophagy and Crohn's disease: at the crossroads of infection, inflammation, immunity, and cancer. Curr. Mol. Med. 10, 486-502 (2010).
6. Abelson, J.F. et al. Sequence variants in SLITRK1 are associated with Tourette's syndrome. Science 310, 317-320 (2005). (Pubitemid 41457198)
7. Yu, Z. et al. Aberrant allele frequencies of the SNPs located in microRNA target sites are potentially associated with human cancers. Nucleic Acids Res. 35, 4535-4541 (2007). (Pubitemid 47244604)
8. Nonne, N., Ameyar-Zazoua, M., Souidi, M. & Harel-Bellan, A. Tandem affinity purification of miRNA target mRNAs (TAP-Tar). Nucleic Acids Res. 38, e20 (2010).
9. O'Connell, R.M., Taganov, K.D., Boldin, M.P., Cheng, G. & Baltimore, D. MicroRNA-155 is induced during the macrophage inflammatory response. Proc. Natl. Acad. Sci. USA 104, 1604-1609 (2007). (Pubitemid 46214637)
10. Zhou, R. et al. NF-B p65-dependent transactivation of miRNA genes following Cryptosporidium parvum infection stimulates epithelial cell immune responses. PLoS Pathog. 5, e1000681 (2009).
11. Moschos, S.A. et al. Expression profiling in vivo demonstrates rapid changes in lung microRNA levels following lipopolysaccharide-induced inflammation but not in the anti-inflammatory action of glucocorticoids. BMC Genomics 8, 240 (2007).
12. Pedersen, I.M. et al. Interferon modulation of cellular microRNAs as an antiviral mechanism. Nature 449, 919-922 (2007). (Pubitemid 47598616)
13. Cadwell, K. et al. A key role for autophagy and the autophagy gene Atg16l1 in mouse and human intestinal Paneth cells. Nature 456, 259-263 (2008).
14. Singh, S.B., Davis, A.S., Taylor, G.A. & Deretic, V. Human IRGM induces autophagy to eliminate intracellular mycobacteria. Science 313, 1438-1441 (2006). (Pubitemid 44360272)
15. Lapaquette, P., Glasser, A.L., Huett, A., Xavier, R.J. & Darfeuille-Michaud, A. Crohn's disease-associated adherent-invasive E. coli are selectively favoured by impaired autophagy to replicate intracellularly. Cell. Microbiol. 12, 99-113 (2010).
16. Bekpen, C. et al. The interferon-inducible p47 (IRG) GTPases in vertebrates: loss of the cell autonomous resistance mechanism in the human lineage. Genome Biol. 6, R92 (2005).
17. MacMicking, J.D., Taylor, G.A. & McKinney, J.D. Immune control of tuberculosis by IFN-gamma-inducible LRG-47. Science 302, 654-659 (2003). (Pubitemid 37310923)
18. Kuballa, P., Huett, A., Rioux, J.D., Daly, M.J. & Xavier, R.J. Impaired autophagy of an intracellular pathogen induced by a Crohn's disease associated ATG16L1 variant. PLoS ONE 3, e3391 (2008).
19. Mary, J.Y. & Modigliani, R. Development and validation of an endoscopic index of the severity for Crohn's disease: a prospective multicentre study. Groupe d'Etudes Therapeutiques des Affections Inflammatoires du Tube Digestif (GETAID). Gut 30, 983-989 (1989).
20. D'Haens, G.R. et al. Early lesions of recurrent Crohn's disease caused by infusion of intestinal contents in excluded ileum. Gastroenterology 114, 262-267 (1998). (Pubitemid 28093532)
21. Cesaro, A. et al. Differential expression and regulation of ADAM17 and TIMP3 in acute inflamed intestinal epithelia. Am. J. Physiol. Gastrointest. Liver Physiol. 296, G1332-G1343 (2009).
22. Cesaro, A. et al. Amplification loop of the inflammatory process is induced by P2X7R activation in intestinal epithelial cells in response to neutrophil transepithelial migration. Am. J. Physiol. Gastrointest. Liver Physiol. 299, G32-G42 (2009).
23. Ogura, Y. et al. Expression of NOD2 in Paneth cells: a possible link to Crohn's ileitis. Gut 52, 1591-1597 (2003). (Pubitemid 37363443)
24. Boudeau, J., Glasser, A.L., Masseret, E., Joly, B. & Darfeuille-Michaud, A. Invasive ability of an Escherichia coli strain isolated from the ileal mucosa of a patient with Crohn's disease. Infect. Immun. 67, 4499-4509 (1999). (Pubitemid 29400425)