Exome sequencing identifies novel compound heterozygous mutations of IL-10 receptor 1 in neonatal-onset Crohn's disease

Genes and Immunity

Volumn 13, Issue 5, 2012, Pages 437-442

  Mao, H ^a   Yang, W ^a   Lee, P P W ^a   Ho, M H K ^a   Yang, J ^a   Zeng, S ^a   Chong, C Y ^a   Lee, T L ^a   Tu, W ^a   Lau, Y L ^a  

^a UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

compound heterozygous mutations; Crohn's disease; exome sequencing; IL 10 binding; IL 10 receptor 1; IL 10 receptor 1 signaling

Indexed keywords

INTERLEUKIN 10; INTERLEUKIN 10 RECEPTOR; INTERLEUKIN 10 RECEPTOR 1; STAT3 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CROHN DISEASE; EXOME; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; INFLAMMATION; MISSENSE MUTATION; NEONATAL ONSET CROHN DISEASE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN PHOSPHORYLATION; SIGNAL TRANSDUCTION;

AMINO ACID SUBSTITUTION; BASE SEQUENCE; CROHN DISEASE; EXOME; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; INTERLEUKIN-10; INTERLEUKIN-10 RECEPTOR ALPHA SUBUNIT; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PROTEIN BINDING; SIGNAL TRANSDUCTION;

EID: 84864118162     PISSN: 14664879     EISSN: 14765470     Source Type: Journal    
DOI: 10.1038/gene.2012.8     Document Type: Article

References (25)

1. Baumgart DC, Sandborn WJ. Inflammatory bowel disease: clinical aspects and established and evolving therapies. Lancet 2007; 369: 1641-1657. (Pubitemid 46722637)
2. Baumgart DC, Carding SR. Inflammatory bowel disease: cause and immunobiology. Lancet 2007; 369: 1627-1640. (Pubitemid 46722636)
3. Abraham C, Cho JH. Inflammatory bowel disease. N Engl J Med 2009; 361: 2066-2078.
4. Franke A, McGovern DP, Barrett JC, Wang K, Radford-Smith GL, Ahmad T et al. Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nat Genet 2010; 42: 1118-1125.
5. Bolze A, Byun M, McDonald D, Morgan NV, Abhyankar A, Premkumar L et al. Whole-exome-sequencing-based discovery of human FADD deficiency. Am J Hum Genet 2010; 87: 873-881.
6. Byun M, Abhyankar A, Lelarge V, Plancoulaine S, Palanduz A, Telhan L et al. Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma. J Exp Med 2010; 207: 2307-2312.
7. Maxmen A. Exome sequencing deciphers rare diseases. Cell 2011; 144: 635-637.
8. Wu C, Orozco C, Boyer J, Leglise M, Goodale J, Batalov S et al. BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources. Genome Biol 2009; 10: R130.
9. Barrett JC, Hansoul S, Nicolae DL, Cho JH, Duerr RH, Rioux JD et al. Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nat Genet 2008; 40: 955-962.
10. Braun J, Wei B. Body traffic: ecology, genetics, and immunity in inflammatory bowel disease. Annu Rev Pathol 2007; 2: 401-429. (Pubitemid 46448071)
11. Kuhn R, Lohler J, Rennick D, Rajewsky K, Muller W. Interleukin-10- deficient mice develop chronic enterocolitis. Cell 1993; 75: 263-274. (Pubitemid 23320290)
12. Franke A, Balschun T, Karlsen TH, Sventoraityte J, Nikolaus S, Mayr G et al. Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility. Nat Genet 2008; 40: 1319-1323.
13. Glocker EO, Kotlarz D, Boztug K, Gertz EM, Schaffer AA, Noyan F et al. Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. N Engl J Med 2009; 361: 2033-2045.
14. Begue B, Verdier J, Rieux-Laucat F, Goulet O, Morali A, Canioni D et al. Defective IL10 signaling defining a subgroup of patients with inflammatory bowel disease. Am J Gastroenterol 2011; 106: 1544-1555.
15. Makita S, Kanai T, Oshima S, Uraushihara K, Totsuka T, Sawada T et al. CD4+CD25bright T cells in human intestinal lamina propria as regulatory cells. J Immunol 2004; 173: 3119-3130. (Pubitemid 39142018)
16. Ouyang W, Rutz S, Crellin NK, Valdez PA, Hymowitz SG. Regulation and functions of the IL-10 family of cytokines in inflammation and disease. Annu Rev Immunol 2011; 29: 71-109.
17. Josephson K, Logsdon NJ, Walter MR. Crystal structure of the IL-10/IL-10R1 complex reveals a shared receptor binding site. Immunity 2001; 15: 35-46. (Pubitemid 32728318)
18. Pletnev S, Magracheva E, Wlodawer A, Zdanov A. A model of the ternary complex of interleukin-10 with its soluble receptors. BMC Struct Biol 2005; 5: 10.
19. Williams L, Bradley L, Smith A, Foxwell B. Signal transducer and activator of transcription 3 is the dominant mediator of the anti-inflammatory effects of IL-10 in human macrophages. J Immunol 2004; 172: 567-576. (Pubitemid 38020514)
20. Finsterbusch M, Khare V, Campregher C, Evstatiev R, Gasche C. An intracytoplasmic IL-10 receptor variant permits rapid reduction in STAT3 activation. Genes Immun 2011; 12: 575-581.
21. Grundtner P, Gruber S, Murray SS, Vermeire S, Rutgeerts P, Decker T et al. The IL-10R1 S138G loss-of-function allele and ulcerative colitis. Genes Immun 2009; 10:84-92.
22. Donnelly RP, Dickensheets H, Finbloom DS. The interleukin-10 signal transduction pathway and regulation of gene expression in mononuclear phagocytes. J Interferon Cytokine Res 1999; 19: 563-573. (Pubitemid 29331308)
23. Cho JH, Brant SR. Recent insights into the genetics of inflammatory bowel disease. Gastroenterology 2011; 140: 1704-1712.
24. Ghaith OA, El Halabi MM, Abdul-Baki H, Gasche C, Nemeth M, Sharara AI. Lack of correlation between IL-10R1 S138G loss-of-function allele and IBD in the Lebanese population. Inflamm Bowel Dis 2010; 16: 1819-1820.
25. Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet 2011; 12: 745-755.