Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

Nature Genetics

Volumn 37, Issue 7, 2005, Pages 692-700

  Vogt, Guillaume ^a   Chapgier, Ariane ^a   Yang, Kun ^a,b   Chuzhanova, Nadia ^c   Feinberg, Jacqueline ^a   Fieschi, Claire ^a,d   Boisson Dupuis, Stéphanie ^a   Alcais, Alexandre ^a   Filipe Santos, Orchidée ^a   Bustamante, Jacinta ^a   De Beaucoudrey, Ludovic ^a   Al Mohsen, Ibrahim ^e   Al Hajjar, Sami ^e   Al Ghonaium, Abdulaziz ^e   Adimi, Parisa ^f   Mirsaeidi, Mehdi ^f   Khalilzadeh, Soheila ^f   Rosenzweig, Sergio ^g,p   De La Galle Martin, Oscar ^h   Bauer, Thomas R ⁱ   Puck, Jennifer M ^j   Ochs, Hans D ^k   Furthner, Dieter ^l   Engelhorn, Carolin ^m   Belohradsky, Bernd ^m   Mansouri, Davood ^f   Holland, Steven M ^g   Schreiber, Robert D ⁿ   Abel, Laurent ^a   Cooper, David N ^c   Soudais, Claire ^a   Casanova, Jean Laurent ^a,b,o   more..

^a IMAGINE INSTITUTE   (France)

^b SHANGHAI SECOND MEDICAL UNIVERSITY   (China)

^c CARDIFF UNIVERSITY   (United Kingdom)

^d SAINT LOUIS HOSPITAL   (France)

^e KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^f SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^g NATIONAL INSTITUTES OF HEALTH   (United States)

^h HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

ⁱ NATIONAL CANCER INSTITUTE   (United States)

^j NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^k UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^l Klinikum Wels   (Austria)

^m Hospital for Sick Children   (Germany)

ⁿ WASHINGTON UNIVERSITY   (United States)

^o HÔPITAL NECKER ENFANTS MALADES   (France)

^p HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GAMMA INTERFERON; ANTIINFECTIVE AGENT; BCG VACCINE; IFNGR2 PROTEIN, HUMAN; INTERFERON RECEPTOR; INTERLEUKIN 12; TUNICAMYCIN;

ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; DISEASE PREDISPOSITION; DNA GLYCOSYLATION; GENE MUTATION; GENETIC SUSCEPTIBILITY; GLYCOSYLATION; HUMAN; MISSENSE MUTATION; MYCOBACTERIOSIS; MYCOBACTERIUM; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN SECRETION; PROTEIN TRANSPORT; CELL LINE; DRUG EFFECT; GENETIC PREDISPOSITION; GENETICS; IN VITRO STUDY; LEUKOCYTE; METABOLISM; MICROBIOLOGY; PRESCHOOL CHILD;

MYCOBACTERIUM;

ANTI-BACTERIAL AGENTS; BCG VACCINE; CELL LINE; CHILD; CHILD, PRESCHOOL; GENETIC PREDISPOSITION TO DISEASE; GLYCOSYLATION; HUMANS; INTERLEUKIN-12; LEUKOCYTES; MUTATION, MISSENSE; MYCOBACTERIUM INFECTIONS; RECEPTORS, INTERFERON; TUNICAMYCIN;

EID: 22844449795     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1581     Document Type: Article

References (50)

1. Casanova, J.L. & Abel, L. Genetic dissection of immunity to mycobacteria: the human model. Annu. Rev. Immunol. 20, 581-620 (2002).
2. Newport, M.J. et al. A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection. N. Engl. J. Med. 335, 1941-1949 (1996).
3. Jouanguy, E. et al. Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guerin infection. N. Engl. J. Med. 335, 1956-1961 (1996).
4. Dorman, S.E. & Holland, S.M. Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection. J. Clin. Invest. 101, 2364-2369 (1998).
5. Altare, F. et al. Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis disseminated infection. J. Clin. Invest. 102, 2035-2040 (1998).
6. Altare, F. et al. Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency. Science 280, 1432-1435 (1998).
7. de Jong, R. et al. Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients. Science 280, 1435-1438 (1998).
8. Dupuis, S. et al. Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation. Science 293, 300-303 (2001).
9. Fieschi, C. et al. A novel form of complete IL-12/IL-23 receptor beta1-deficiency with cell surface-expressed non-functional receptors. Blood 104, 2095-2101 (2004).
10. Casanova, J.L. & Abel, L. The human model: a genetic dissection of immunity to infection in natural conditions. Nat. Rev. Immunol. 4, 56-66 (2004).
11. Jouanguy, E. et al. In a novel form of complete IFNγyR1 deficiency, cell-surface receptors fail to bind IFN-γ. J. Clin. Invest. 105, 1429-1436 (2000).
12. Jouanguy, E. et al. Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guerin infection and a sibling with clinical tuberculosis. J. Clin. Invest. 100, 2658-2664 (1997).
13. Jouanguy, E. et al. A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection. Nat. Genet. 21, 370-378 (1999).
14. Döffinger, R. et al. Partial Interferon gamma receptor signalling chain deficiency in a patient with bacille Calmette-Guérin and Mycobacterium abscessus infection. J. Infect. Dis. 181, 379-384 (2000).
15. Dorman, S.E. et al. Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies. Lancet 364, 2113-2121 (2004).
16. Dupuis, S. et al. Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency. Nat. Genet. 33, 388-391 (2003).
17. Rosenzweig, S.D. et al. A novel mutation in IFN-gamma receptor 2 with dominant negative activity: biological consequences of homozygous and heterozygous states. J. Immunol. 173, 4000-4008 (2004).
18. Feinbezzzrg, J. et al. Bacillus Calmette Guerin triggers the IL-12/IFN-gamma axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes. Eur. J. Immunol. 34, 3276-3284 (2004).
19. Lowe, J.B. & Marth, J.D. A genetic approach to Mammalian glycan function. Annu. Rev. Biochem. 72, 643-691 (2003).
20. Maley, F., Trimble, R.B., Tarentino, A.L. & Plummer, T.H. Jr Characterization of glycoproteins and their associated oligosaccharides through the use of endoglycosidases. Anal. Biochem. 180, 195-204 (1989).
21. Asano, N. Glycosidase inhibitors: update and perspectives on practical use. Glycobiology 13, 93R-104R (2003).
22. Beechis, M. et al. The additionally giycosylated variant of human sex hormone-binding globulin (SHBG) is linked to estrogen-dependence of breast cancer. Breast Cancer Res. Treat. 54, 101-107 (1999).
23. Manna, P.R. et al. Synthesis, purification and structural and functional characterizationof recombinant form of a common genetic variant of human luteinizing hormone. Hum. Mol. Genet. 11, 301-315 (2002).
24. Kaudewitz, H., Henschen, A., Soria, J. & Soria, C. Fibrinogen Pontoise A genetically abnormal fibrinogen with defective fibrin polymerisation but normal fibrinopeptide release, in Fibrinogen-Fibrin Formation and Fibrinolysis vol. 4 (eds. Lane, D.A., Henschen, A. & Jasam, H.K) 91-96 (Walter de Gruyter, Berlin. 1986).
25. Yamazumi, K., Shimura, K., Terukina, S., Takahashi, N. & Matsuda, M. A gamma methionine-310 to threonine substitution and consequent N-glycosylation at gamma asparagme-308 identified in a congenital dysfibrinogenemia associated with posttraumatic bleeding, fibrinogen Asahi. J. Clin. Invest. 83, 1590-1597 (1989).
26. Parad, R.B., Kramer, J., Strunk, R.C., Rosen, F.S. & Davis, A.E. 3rd Dysfunctional C1 inhibitor Ta: deletion of Lys-251 results in acquisition of an N-glycosylation site. Proc. Natl. Acad. Sci. USA 87, 6786-6790 (1990).
27. Maekawa, H. et al. An A alpha Ser-434 to N-glycosylated Asn substitution in a dysfibrinogen, fibrinogen Caracas II, characterized by impaired fibrin gel formation. J. Biol. Chem. 266, 11575-115781 (1991).
28. Maekawa, H. et al. Fibrinogen Lima: a homozygous dysfibrinogen with an A alpha-arginine-141 to serine substitution associated with extra N-glycosylation at A alpha-asparagine-139. Impaired fibrin gel formation but normal fibrin-facilitated plasminogen activation catalyzed by tissue-type plasminogen activator. J. Clin. Invest. 90, 67-76 (1992).
29. Aly, A.M. et al. Hemophilia A due to mutations that create new N-glycosylation sites. Proc. Natl. Acad. Sci. USA 89, 4933-4937 (1992).
30. Lonnqvist, L. et al. A point mutation creating an extra N-glycosylation site m fibrillin-1 results in neonatal Marfan syndrome. Genomics 36, 468-475 (1996).
31. Pariyarath, R., Pagani, F., Stuani, C., Garcia, R. & Baralle, F.E. L273S missense substitution in human lysosomal acid lipase creates a new N-glycosylation site. FEBS Lett. 397, 79-82 (1996).
32. Ridgway, H.J., Brennan, S.O., Loreth, R.M. & George, P.M. Fibrinogen Kaiserslautern (gamma 380 Lys to Asn): a new glycosylated fibrinogen variant with delayed polymerization. Br. J. Haematol. 99, 562-569 (1997).
33. Sugo, T. et al. Fibrinogen Niigata with impaired fibrin assembly: an inherited dysfibrinogen with a Bbeta Asn-160 to Ser substitution associated with extra glycosylation at Bbeta Asn-158. Blood 94, 3806-3813 (1999).
34. Hammerle, M.M., Aleksandrov, A.A., Chang, X.B. & Riordan, J.R. A novel CFTR disease-associated mutation causes addition of an extra N-linked oligosaccharide. Glycoconj. J. 17, 807-813 (2000).
35. Fitches, A.C., Lewandowski, K., & Olds, R.J. Creation of an additional glycosylation site as a mechanism for type I antithrombin deficiency. Thromb. Haemost. 86, 1023-1027 (2001).
36. Steen, M. et al. Functional characterization of factor V-Ile359Thr: a novel mutation associated with thrombosis. Blood 103, 3381-3387 (2004).
37. Hamano, A. et al. Thrombophilic dysfibrinogen Tokyo V with the amino acid substitution of gammaAla327Thr: formation of fragile but fibrinolysis-resistant fibrin clots and its relevance to arterial thromboembolism. Blood 103, 3045-3050 (2004).
38. Molday, R.S., Molday, L.L. & Loewen, C.J. Role of subunit assembly in autosomal dominant retinitis pigmentosa linked to mutations in peripherin 2. Novartis Found. Symp. 255, 95-112 (2004).
39. Stenson, P.D. et al. Human Gene Mutation Database (HGMD): 2003 update. Hum. Mutat. 21, 577-581 (2003).
40. Kall, L., Krogh, A. & Sonnhammer, E.L. A combined transmembrane topology and signal peptide prediction method. J. Mol. Biol. 338, 1027-1036 (2004).
41. Alder, N.N. & Johnson, A.E. Cotranslational membrane protein biogenesis at the endoplasmic reticulum. J. Biol. Chem. 279, 22787-22790 (2004).
42. Puck, J.M. et al. Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency. Blood 89, 1968-1977 (1997).
43. de la Calle-Martin, O. et al. Familial CD8 deficiency due to a mutation in the CD8 alpha gene. J. Clin. Invest. 108, 117-123 (2001).
44. Back, A.L. et al. A point mutation associated with leukocyte adhesion deficiency type 1 of moderate severity. Biochem. Biophys. Res. Commun. 193, 912-918 (1993).
45. Clementi, R. et al. Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis. J. Med. Genet. 38, 643-646 (2001).
46. Bajorath, J., Seyama, K., Nonoyama, S., Ochs, H.D. & Aruffo, A. Classification of mutations in the human CD40 ligand, gp39, that are associated with X-linked hyper IgM syndrome. Protein Sciences, 531 (1996).
47. Allen, R.C. et al. CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. Science 259, 990-993 (1993).
48. Lu, Y. et al. Co- and posttranslational translocation mechanisms direct cystic fibrosis transmembrane conductance regulator N terminus transmembrane assembly. J. Biol. Chem. 273, 568-576 (1998).
49. Egan, M.E. et al. Curcumin, a major constituent of turmeric, corrects cystic fibrosis defects. Science 304, 600-602 (2004).
50. Van den Steen, P., Rudd, P.M., Dwek, R.A. & Opdenakker, G. Concepts and principles of O-linked glycosylation. Crit. Rev. Biochem. Mol. Biol. 33, 151-208 (1998).