Multiple polymorphisms affect expression and function of the neuropeptide S receptor (NPSR1)

PLoS ONE

Volumn 6, Issue 12, 2011, Pages

  Anedda, Francesca ^a,b   Zucchelli, Marco ^a   Schepis, Danika ^a   Hellquist, Anna ^a   Corrado, Lucia ^c   D'Alfonso, Sandra ^c   Achour, Adnane ^a,d   McInerney, Gerald ^a   Bertorello, Alejandro ^a   Lördal, Mikael ^a   Befrits, Ragnar ^a   Björk, Jan ^a   Bresso, Francesca ^a   Törkvist, Leif ^a   Halfvarson, Jonas ^e,f   Kere, Juha ^a,g,h   D'Amato, Mauro ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

^b Department of Neuroscience   (Italy)

^c UNIVERSITY OF EASTERN PIEDMONT   (Italy)

^d KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^e ÖREBRO UNIVERSITY HOSPITAL   (Sweden)

^f ÖREBRO UNIVERSITY   (Sweden)

^g UNIVERSITY OF HELSINKI   (Finland)

^h SCIENCE FOR LIFE LABORATORY   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; ASPARAGINE; CYSTEINE; ISOLEUCINE; MESSENGER RNA; NEUROPEPTIDE S; PHENYLALANINE; SERINE; G PROTEIN COUPLED RECEPTOR; NPSR1 PROTEIN, HUMAN; PRIMER DNA;

ARTICLE; BIOINFORMATICS; CAUCASIAN; CONTROLLED STUDY; DISEASE PREDISPOSITION; DNA POLYMORPHISM; FLUORESCENCE ACTIVATED CELL SORTING; GENE EXPRESSION; GENE FREQUENCY; GENE LOCUS; GENETIC ASSOCIATION; GENETIC CODE; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; LEUKOCYTE; MOLECULAR MODEL; PHARMACOGENETICS; PILOT STUDY; PROMOTER REGION; PROTEIN FUNCTION; REAL TIME POLYMERASE CHAIN REACTION; REPORTER GENE; SINGLE NUCLEOTIDE POLYMORPHISM; CELL LINE; CHEMICAL STRUCTURE; CHEMISTRY; DNA MICROARRAY; FLOW CYTOMETRY; FLUORESCENT ANTIBODY TECHNIQUE; GENETICS; NUCLEOTIDE SEQUENCE; PHYSIOLOGY;

BASE SEQUENCE; CELL LINE; DNA PRIMERS; FLOW CYTOMETRY; FLUORESCENT ANTIBODY TECHNIQUE; GENE EXPRESSION; HUMANS; MODELS, MOLECULAR; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; REAL-TIME POLYMERASE CHAIN REACTION; RECEPTORS, G-PROTEIN-COUPLED; RNA, MESSENGER;

EID: 83755229182     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0029523     Document Type: Article

References (48)

1. Guerrini R, Salvadori S, Rizzi A, Regoli D, Calo G, (2010) Neurobiology, pharmacology, and medicinal chemistry of neuropeptide S and its receptor Med Res Rev 30: 751-777.
2. Pape HC, Jungling K, Seidenbecher T, Lesting J, Reinscheid RK, (2010) Neuropeptide S: a transmitter system in the brain regulating fear and anxiety Neuropharmacology 58: 29-34.
3. Xu YL, Reinscheid RK, Huitron-Resendiz S, Clark SD, Wang Z, et al. (2004) Neuropeptide S: a neuropeptide promoting arousal and anxiolytic-like effects Neuron 43: 487-497.
4. Reinscheid RK, Xu YL, Okamura N, Zeng J, Chung S, et al. (2005) Pharmacological characterization of human and murine neuropeptide s receptor variants J Pharmacol Exp Ther 315: 1338-1345.
5. Xu YL, Gall CM, Jackson VR, Civelli O, Reinscheid RK, (2007) Distribution of neuropeptide S receptor mRNA and neurochemical characteristics of neuropeptide S-expressing neurons in the rat brain J Comp Neurol 500: 84-102.
6. Reinscheid RK, (2008) Neuropeptide S: anatomy, pharmacology, genetics and physiological functions Results Probl Cell Differ 46: 145-158.
7. Jungling K, Seidenbecher T, Sosulina L, Lesting J, Sangha S, et al. (2008) Neuropeptide S-mediated control of fear expression and extinction: role of intercalated GABAergic neurons in the amygdala Neuron 59: 298-310.
8. Kallupi M, Cannella N, Economidou D, Ubaldi M, Ruggeri B, et al. (2010) Neuropeptide S facilitates cue-induced relapse to cocaine seeking through activation of the hypothalamic hypocretin system Proc Natl Acad Sci USA 107: 19567-19572.
9. Pulkkinen V, Majuri ML, Wang G, Holopainen P, Obase Y, et al. (2006) Neuropeptide S and G protein-coupled receptor 154 modulate macrophage immune responses Hum Mol Genet 15: 1667-1679.
10. Vendelin J, Bruce S, Holopainen P, Pulkkinen V, Rytila P, et al. (2006) Downstream target genes of the neuropeptide S-NPSR1 pathway Hum Mol Genet 15: 2923-2935.
11. D'Amato M, Bruce S, Bresso F, Zucchelli M, Ezer S, et al. (2007) Neuropeptide s receptor 1 gene polymorphism is associated with susceptibility to inflammatory bowel disease Gastroenterology 133: 808-817.
12. Laitinen T, Polvi A, Rydman P, Vendelin J, Pulkkinen V, et al. (2004) Characterization of a common susceptibility locus for asthma-related traits Science 304: 300-304.
13. Vendelin J, Pulkkinen V, Rehn M, Pirskanen A, Raisanen-Sokolowski A, et al. (2005) Characterization of GPRA, a novel G protein-coupled receptor related to asthma Am J Respir Cell Mol Biol 33: 262-270.
14. D'Amato M, Zucchelli M, Seddighzadeh M, Anedda F, Lindblad S, et al. (2010) Analysis of neuropeptide S receptor gene (NPSR1) polymorphism in rheumatoid arthritis PLoS One 5: e9315.
15. Camilleri M, Carlson P, Zinsmeister AR, McKinzie S, Busciglio I, et al. (2010) Neuropeptide S receptor induces neuropeptide expression and associates with intermediate phenotypes of functional gastrointestinal disorders Gastroenterology 138: 98-107.
16. Donner J, Haapakoski R, Ezer S, Melen E, Pirkola S, et al. (2010) Assessment of the neuropeptide S system in anxiety disorders Biol Psychiatry 68: 474-483.
17. Domschke K, Reif A, Weber H, Richter J, Hohoff C, et al. Neuropeptide S receptor gene- converging evidence for a role in panic disorder Mol Psychiatry In press.
18. Okamura N, Hashimoto K, Iyo M, Shimizu E, Dempfle A, et al. (2007) Gender-specific association of a functional coding polymorphism in the Neuropeptide S receptor gene with panic disorder but not with schizophrenia or attention-deficit/hyperactivity disorder Prog Neuropsychopharmacol Biol Psychiatry 31: 1444-1448.
19. Raczka KA, Gartmann N, Mechias ML, Reif A, Buchel C, et al. (2010) A neuropeptide S receptor variant associated with overinterpretation of fear reactions: a potential neurogenetic basis for catastrophizing Mol Psychiatry 15: 1067-1074.
20. Ekelund E, Bradley M, Weidinger S, Jovanovic DL, Johansson C, et al. (2009) Lack of association between neuropeptide S receptor 1 gene (NPSR1) and eczema in five European populations Acta Derm Venereol 89: 115-121.
21. Malerba G, Lindgren CM, Xumerle L, Kiviluoma P, Trabetti E, et al. (2007) Chromosome 7p linkage and GPR154 gene association in Italian families with allergic asthma Clin Exp Allergy 37: 83-89.
22. Veal CD, Reynolds NJ, Meggitt SJ, Allen MH, Lindgren CM, et al. (2005) Absence of association between asthma and high serum immunoglobulin E associated GPRA haplotypes and adult atopic dermatitis J Invest Dermatol 125: 399-401.
23. Vergara C, Jimenez S, Acevedo, N, Martinez B, Mercado D, et al. (2009) Association of G-protein-coupled receptor 154 with asthma and total IgE in a population of the Caribbean coast of Colombia Clin Exp Allergy 39: 1558-1568.
24. Wu H, Romieu I, Sienra-Monge JJ, del Rio-Navarro BE, Burdett L, et al. (2008) Lack of association between genetic variation in G-protein-coupled receptor for asthma susceptibility and childhood asthma and atopy Genes Immun 9: 224-230.
25. Melen E, Bruce S, Doekes G, Kabesch M, Laitinen T, et al. (2005) Haplotypes of G protein-coupled receptor 154 are associated with childhood allergy and asthma Am J Respir Crit Care Med 171: 1089-1095.
26. Hersh CP, Raby BA, Soto-Quiros ME, Murphy AJ, Avila L, et al. (2007) Comprehensive testing of positionally cloned asthma genes in two populations Am J Respir Crit Care Med 176: 849-857.
27. Kormann MS, Carr D, Klopp N, Illig T, Leupold W, et al. (2005) G-Protein-coupled receptor polymorphisms are associated with asthma in a large German population Am J Respir Crit Care Med 171: 1358-1362.
28. McGovern DP, Gardet A, Torkvist L, Goyette P, Essers J, et al. (2010) Genome-wide association identifies multiple ulcerative colitis susceptibility loci Nat Genet 42: 332-337.
29. Zucchelli M, Torkvist L, Bresso F, Halfvarson J, Hellquist A, et al. (2009) PepT1 oligopeptide transporter (SLC15A1) gene polymorphism in inflammatory bowel disease Inflamm Bowel Dis 15: 1562-1569.
30. Einarsdottir E, Koskinen LL, Dukes E, Kainu K, Suomela S, et al. (2009) IL23R in the Swedish, Finnish, Hungarian and Italian populations: association with IBD and psoriasis, and linkage to celiac disease BMC Med Genet 10: 8.
31. Bresso F, Askling J, Astegiano M, Demarchi B, Sapone N, et al. (2007) Potential role for the common cystic fibrosis DeltaF508 mutation in Crohn's disease Inflamm Bowel Dis 13: 531-536.
32. Torkvist L, Halfvarson J, Ong RT, Lordal M, Sjoqvist U, et al. (2010) Analysis of 39 Crohn's disease risk loci in Swedish inflammatory bowel disease patients Inflamm Bowel Dis 16: 907-909.
33. Shi J, Blundell TL, Mizuguchi K, (2001) FUGUE: sequence-structure homology recognition using environment-specific substitution tables and structure-dependent gap penalties J Mol Biol 310: 243-257.
34. Okada T, Sugihara M, Bondar AN, Elstner M, Entel P, et al. (2004) The retinal conformation and its environment in rhodopsin in light of a new 22 A crystal structure J Mol Biol 342: 571-583.
35. Li C, Wong WH, (2001) Model-based analysis of oligonucleotide arrays: expression index computation and outlier detection Proc Natl Acad Sci USA 98: 31-36.
36. Schaid DJ, Rowland CM, Tines DE, Jacobson RM, Poland GA, (2002) Score tests for association between traits and haplotypes when linkage phase is ambiguous Am J Hum Genet 70: 425-434.
37. Bernier V, Stocco R, Bogusky MJ, Joyce JG, Parachoniak C, et al. (2006) Structure-function relationships in the neuropeptide S receptor: molecular consequences of the asthma-associated mutation N107I J Biol Chem 281: 24704-24712.
38. Dal Ben D, Antonini I, Buccioni M, Lambertucci C, Marucci G, et al. (2010) Molecular modeling studies on the human neuropeptide S receptor and its antagonists 5: 371-383.
39. Liu Y, Shepherd EG, Nelin LD, (2007) MAPK phosphatases-regulating the immune response Nat Rev Immunol 7: 202-212.
40. Nepomuceno D, Sutton S, Yu J, Zhu J, Liu C, et al. (2010) Mutagenesis studies of neuropeptide S identify a suitable peptide tracer for neuropeptide S receptor binding studies and peptides selectively activating the I(107) variant of human neuropeptide S receptor Eur J Pharmacol 635: 27-33.
41. Palczewski K, Kumasaka T, Hori T, Behnke CA, Motoshima H, et al. (2000) Crystal structure of rhodopsin: A G protein-coupled receptor Science 289: 739-745.
42. Duangdao DM, Clark SD, Okamura N, Reinscheid RK, (2009) Behavioral phenotyping of neuropeptide S receptor knockout mice Behav Brain Res 205: 1-9.
43. Durbin RM, Abecasis GR, Altshuler DL, Auton A, et al. Genome Project Consortium (2010) A map of human genome variation from population-scale sequencingNature 467: 1061-1073.
44. Guerrini R, Camarda V, Trapella C, Calo G, Rizzi A, et al. (2009) Synthesis and biological activity of human neuropeptide S analogues modified in position 5: identification of potent and pure neuropeptide S receptor antagonists J Med Chem 52: 524-529.
45. Guerrini R, Camarda V, Trapella C, Calo G, Rizzi A, et al. (2009) Further studies at neuropeptide s position 5: discovery of novel neuropeptide S receptor antagonists J Med Chem 52: 4068-4071.
46. Okamura N, Habay SA, Zeng J, Chamberlin AR, Reinscheid RK, (2008) Synthesis and pharmacological in vitro and in vivo profile of 3-oxo-1,1-diphenyl-tetrahydro-oxazolo[3,4-a]pyrazine-7-carboxylic acid 4-fluoro-benzylamide (SHA 68), a selective antagonist of the neuropeptide S receptor J Pharmacol Exp Ther 325: 893-901.
47. Camarda V, Trapella C, Calo G, Guerrini R, Rizzi A, et al. (2008) Synthesis and biological activity of human neuropeptide S analogues modified in position 2 J Med Chem 51: 655-658.
48. Ruzza C, Rizzi A, Trapella C, Pela M, Camarda V, et al. (2010) Further studies on the pharmacological profile of the neuropeptide S receptor antagonist SHA 68 Peptides 31: 915-925.