Genetic approaches to unraveling G protein-coupled receptor biology

Current Opinion in Drug Discovery and Development

Volumn 7, Issue 5, 2004, Pages 658-664

  Aparicio, Samuel A J R ^a,b   Powell, Justin ^b  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b Paradigm Therapeutics Ltd   (United Kingdom)

Author keywords

Genome; GPCR; Hypothalamic pituitary gonadal axis; Knockout; Rhodopsin like; Rodent model

Indexed keywords

FOLLITROPIN; G PROTEIN COUPLED RECEPTOR; GONADORELIN; LUTEINIZING HORMONE; OREXIN; RHODOPSIN;

GENOME; HUMAN; HYPOTHALAMUS HYPOPHYSIS GONAD SYSTEM; IN VIVO STUDY; KNOCKOUT MOUSE; MUTAGENESIS; NONHUMAN; REVIEW; VALIDATION PROCESS;

ANIMALS; GENETIC TECHNIQUES; HUMANS; MICE; MICE, KNOCKOUT; RECEPTORS, G-PROTEIN-COUPLED; RECEPTORS, GALANIN; TECHNOLOGY, PHARMACEUTICAL;

EID: 4944247939     PISSN: 13676733     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (44)

1. Sakurai T, Amemiya A, Ishii M, Matsuzaki I, Chemelli RM, Tanaka H, Williams SC, Richardson JA, Kozlowski GP, Wilson S, Arch JR et al: Orexins and orexin receptors: A family of hypothalamic neuropeptides and G protein-coupled receptors that regulate feeding behavior. Cell (1998) 92(4):573-585.
2. Chemelli RM, Willie JT, Sinton CM, Elmquist JK, Scammell T, Lee C, Richardson JA, Williams SC, Xiong Y, Kisanuki Y, Fitch TE et al: Narcolepsy in orexin knockout mice: Molecular genetics of sleep regulation. Cell (1999) 98(4):437-451.
3. Lin L, Faraco J, Li R, Kadotani H, Rogers W, Lin X, Qiu X, de Jong PJ, Nishino S, Mignot E: The sleep disorder canine narcolepsy is caused by a mutation in the hypocretin (orexin) receptor 2 gene. Cell (1999) 98(3):365-376.
4. Nishino S, Ripley B, Overeem S, Lammers GJ, Mignot E: Hypocretin (orexin) deficiency in human narcolepsy. Lancet (2000) 355(9197):39-40.
5. Peyron C, Faraco J, Rogers W, Ripley B, Overeem S, Charnay Y, Nevsimalova S, Aldrich M, Reynolds D, Albin R, Li R et al: A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains. Nat Med (2000) 6(9):991-997.
6. Gaylinn BD: Growth hormone-releasing hormone receptor. Recept Channels (2002) 8(3-4):155-162.
7. Vassart G, Pardo L, Costagliola S: A molecular dissection of the glycoprotein hormone receptors. Trends Biochem Sci (2004) 29(3):119-126.
8. Farooqi IS, O'Rahilly S: Monogenic human obesity syndromes. Recent Prog Horm Res (2004) 59:409-424.
9. Fredriksson R, Lagerstrom MC, Lundin LG, Schioth HB: The G protein-coupled receptors in the human genome form five main families. Phylogenetic analysis, paralogon groups and fingerprints. Mol Pharmacol (2003) 63(6):1256-1272. Provides a recent and almost comprehensive informatic survey of GPCR proteins in the human genome.
10. Xu Q, Wang Y, Dabdoub A, Smallwood PM, Williams J, Woods C, Kelley MW, Jiang L, Tasman W, Zhang K, Nathans J et al: Vascular development in the retina and inner ear: Control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair. Cell (2004) 116(6):883-895.
11. Lyuksyutova AI, Lu CC, Milanesio N, King LA, Guo N, Wang Y, Nathans J, Tessler-Lavigne M, Zou Y: Anterior-posterior guidance of commissural axons by Wnt-Frizzled signaling. Science (2003) 302(5652):1984-1988.
12. Hsieh M, Mulders SM, Friis RR, Dharmarajan A, Richards JS: Expression and localization of secreted Frizzled-related protein-4 in the rodent ovary: Evidence for selective up-regulation in luteinized granulosa cells. Endocrinology (2003) 144(10):4597-4606.
13. Hsieh M, Johnson MA, Greenberg NM, Richards JS: Regulated expression of Wnts and Frizzleds at specific stages of follicular development in the rodent ovary. Endocrinology (2002) 143(3):898-908.
14. Wang Y, Huso D, Cahill H, Ryugo D, Nathans J: Progressive cerebellar, auditory and esophageal dysfunction caused by targeted disruption of the frizzled-4 gene. J Neurosci (2001) 21(13):4761-4771.
15. Ishikawa T, Tamai Y, Zorn AM, Yoshida H, Seldin MF, Nishikawa S, Taketo MM: Mouse Wnt receptor gene Fzd5 is essential for yolk sac and placental angiogenesis. Development (2001) 128(1):25-33.
16. Karasinska JM, George SR, O'Dowd BF: Family 1 G protein-coupled receptor function in the CNS. Insights from gene knockout mice. Brain Res Brain Res Rev (2003) 41(2-3):125-152.
17. Clamp M, Andrews D, Barker D, Bevan P, Cameron G, Chen Y, Clark L, Cox T, Cuff J, Curwen V, Down T et al: Ensembl 2002: Accommodating comparative genomics. Nucleic Acids Res (2003) 31(1):38-42.
18. Aparicio S, Chapman J, Stupka E, Putnam N, Chia JM, Dehal P, Christoffels A, Rash S, Hoon S, Smit A, Gelpke MD et al: Whole-genome shotgun assembly and analysis of the genome of Fugu rubripes. Science (2002) 297(5585):1301-1310.
19. Christoffels A, Koh EG, Chia JM, Brenner S, Aparicio S, Venkatesh B: Fugu genome analysis provides evidence for a whole-genome duplication early during the evolution of ray-finned fishes. Mol Biol Evol (2004) 21(6):1146-1151.
20. Gibbs RA, Weinstock GM, Metzker ML, Muzny DM, Sodergren EJ, Scherer S, Scott G, Steffen D, Worley KC, Burch PE, Okwuonu G et al: Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature (2004) 428(6982):493-521.
21. Waterston RH, Lindblad-Toh K, Birney E, Rogers J, Abril JF, Agarwal P, Agarwala R, Ainscough R, Alexandersson M, An P, Antonarakis SE et al: Initial sequencing and comparative analysis of the mouse genome. Nature (2002) 420(6915):520-562. Describes the initial sequence assembly and analysis of the mouse genome and provides much of the background for future mouse studies on GPCRs.
22. Zan Y, Haag JD, Chen KS, Shepel LA, Wigington D, Wang YR, Hu R, Lopez-Guajardo CC, Brose HL, Porter KI, Leonard RA et al: Production of knockout rats using ENU mutagenesis and a yeast-based screening assay. Nat Biotechnol (2003) 21(6):645-651. Describes a method for rapidly selecting for loss-of-function point mutations in mutagenized rat sperm, opening up the exciting possibility of generating knockout rats and having important implications for pharmacology.
23. Zambrowicz BP, Sands AT: Knockouts model the 100 best-selling drugs - will they model the next 100? Nat Rev Drug Disc (2003) 2(1):38-51.
24. Furutani-Seiki M, Sasado T, Morinaga C, Suwa H, Niwa K, Yoda H, Deguchi T, Hirose Y, Yasuoka A, Henrich T, Watanabe T et al: A systematic genome-wide screen for mutations affecting organogenesis in Medaka, Oryzias latipes. Mech Dev (2004) 121(7-8):647-658.
25. Haffter P, Granato M, Brand M, Mullins MC, Hammerschmidt M, Kane DA, Odenthal J, van Eeden FJ, Jiang YJ, Heisenberg CP, Kelsh RN et al: The identification of genes with unique and essential functions in the development of the zebrafish, Danio rerio. Development (1996) 123:1-36.
26. Amsterdam A, Burgess S, Golling G, Chen W, Sun Z, Townsend K, Farrington S, Haldi M, Hopkins N: A large-scale insertional mutagenesis screen in zebrafish. Genes Dev (1999) 13(20):2713-2724.
27. Golling G, Amsterdam A, Sun Z, Antonelli M, Maldonado E, Chen W, Burgess S, Haldi M, Artzt K, Farrington S, Lin SY et al: Insertional mutagenesis in zebrafish rapidly identifies genes essential for early vertebrate development. Nat Genet (2002) 31(2):135-140.
28. Hrabe de Angelis MH, Flaswinkel H, Fuchs H, Rathkolb B, Soewarto D, Marschall S, Heffner S, Pargent W, Wuensch K, Jung M, Reis A et al: Genome-wide, large-scale production of mutant mice by ENU mutagenesis. Nat Genet (2000) 25(4):444-447.
29. Cox RD, Brown SD: Rodent models of genetic disease. Curr Opin Genet Dev (2003) 13(3):278-283.
30. Nolan PM, Peters J, Strivens M, Rogers D, Hagan J, Spurr N, Gray IC, Vizor L, Brooker D, Whitehall E, Washbourne R et al: A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse. Nat Genet (2000) 25(4):440-443.
31. Wurst W, Rossant J, Prideaux V, Kownacka M, Joyner A, Hill DP, Guillemot F, Gasca S, Cado D, Auerbach A et al: A large-scale gene-trap screen for insertional mutations in developmentally regulated genes in mice. Genetics (1995) 139(2):889-899.
32. Zambrowicz BP, Abuin A, Ramirez-Solis R, Richter LJ, Piggott J, BeltrandelRio H, Buxton EC, Edwards J, Finch RA, Friddle CJ, Gupta A et al: Wnk1 kinase deficiency lowers blood pressure in mice: A gene-trap screen to identify potential targets for therapeutic intervention. Proc Natl Acad Sci USA (2003) 100(24):14109-14114.
33. Hafezparast M, Klocke R, Ruhrberg C, Marquardt A, Ahmad-Annuar A, Bowen S, Lalli G, Witherden AS, Hummerich H, Nicholson S, Morgan PJ et al: Mutations in dynein link motor neuron degeneration to defects in retrograde transport. Science (2003) 300(5620):808-812.
34. Kondro W: Molecular biology. Consortium tackles mouse regulome. Science (2004) 304(5673):942.
35. Svenningsson P, Tzavara ET, Carruthers R, Rachleff I, Wattler S, Nehls M, McKinzie DL, Fienberg AA, Nomikos GG, Greengard P: Diverse psychotomimetics act through a common signaling pathway. Science (2003) 302(5649):1412-1415.
36. Seminara SB, Messager S, Chatzidaki EE, Thresher RR, Acierno JS Jr, Shagoury JK, Bo-Abbas Y, Kuohung W, Schwinof KM, Hendrick AG, Zahn D et al: The GPR54 gene as a regulator of puberty. N Engl J Med (2003) 349(17):1614-1627. Landmark paper describing a novel control point in the mammalian sex steroid axis, which was defined by knockout studies in mice and positional cloning in humans.
37. de Roux N, Genin E, Carel JC, Matsuda F, Chaussain JL, Milgrom E: Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54. Proc Natl Acad Sci USA (2003) 100(19):10972-10976.
38. Lee JH, Welch DR: Suppression of metastasis in human breast carcinoma MDA-MB-435 cells after transfection with the metastasis suppressor gene, KiSS-1. Cancer Res (1997) 57(12):2384-2387.
39. Kotani M, Detheux M, Vandenbogaerde A, Communi D, Vanderwinden JM, Le Poul E, Brezillon S, Tyldesley R, Suarez-Huerta N, Vandeput F, Blanpain C et al: The metastasis suppressor gene KiSS-1 encodes kisspeptins, the natural ligands of the orphan G protein-coupled receptor GPR54. J Biol Chem (2001) 276(37):34631-34636.
40. Muir AI, Chamberlain L, Elshourbagy NA, Michalovich D, Moore DJ, Calamari A, Szekeres PG, Sarau HM, Chambers JK, Murdock P, Steplewski K et al: AXOR12, a novel human G protein-coupled receptor, activated by the peptide KiSS-1. J Biol Chem (2001) 276(31):28969-28975.
41. Ohtaki T, Shintani Y, Honda S, Matsumoto H, Hori A, Kanehashi K, Terao Y, Kumano S, Takatsu Y, Masuda Y, Ishibashi Y et al: Metastasis suppressor gene KiSS-1 encodes peptide ligand of a G protein-coupled receptor. Nature (2001) 411(6837):613-617.
42. Clements MK, McDonald TP, Wang R, Xie G, O'Dowd BF, George SR, Austin CP, Liu Q: FMRFamide-related neuropeptides are agonists of the orphan G protein-coupled receptor GPR54. Biochem Biophys Res Commun (2001) 284(5):1189-1193.
43. Gottsch ML, Cunningham MJ, Smith JT, Popa SM, Acohido BV, Crowley WF, Seminara S, Clifton DK, Steiner RA: A role for kisspeptins in the regulation of gonadotropin secretion in the mouse. Endocrinology (2004) 154(9):4073-4077.
44. Horikoshi Y, Matsumoto H, Takatsu Y, Ohtaki T, Kitada C, Usuki S, Fujino M: Dramatic elevation of plasma metastin concentrations in human pregnancy: Metastin as a novel placenta-derived hormone in humans. J Clin Endocrinol Metab (2003) 88(2):914-919.