Genetic variations and polymorphisms of G protein-coupled receptors: Functional and therapeutic implications

Annual Review of Pharmacology and Toxicology

Volumn 41, Issue , 2001, Pages 593-624

  Rana, B K ^a   Shiina, T ^a   Insel, P A ^a  

^a San Diego   (United States)

Author keywords

Complex diseases; Mutants; SNPs; Structure function; Variants

Indexed keywords

AMINO ACID; G PROTEIN COUPLED RECEPTOR;

AMINO ACID SEQUENCE; DISEASE CLASSIFICATION; GENE EXPRESSION; GENE LOCUS; GENE MAPPING; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HUMAN; LIGAND BINDING; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN PROTEIN INTERACTION; REVIEW; SEQUENCE ANALYSIS;

ANIMALS; DOWN-REGULATION; GTP-BINDING PROTEINS; HUMANS; RECEPTORS, CELL SURFACE;

EID: 0035040530     PISSN: 03621642     EISSN: None     Source Type: Book Series    
DOI: 10.1146/annurev.pharmtox.41.1.593     Document Type: Review

References (150)

1. Neurobiology of the Caenorhabditis elegans genome
2. Comparative genomics of the eukaryotes
3. Molecular basis of receptor/G protein-coupling selectivity
4. Structural and functional aspects of G protein-coupled receptor oligomerization
5. G protein-coupled receptors. I. Diversity of receptor-ligand interactions
6. G protein-coupled receptors. II. Mechanisms of agonist activation
7. G protein-coupled receptors. III. New roles for receptor kinases and β-arrestins in receptor signaling and desensitization
8. Structural basis of G protein-coupled receptor function
9. Uncovering molecular mechanisms involved in activation of G protein-coupled receptors
10. GPCRDB: An information system for G protein-coupled receptors
11. Molecular tinkering of G protein-coupled receptors: An evolutionary success
12. Receptors for VIP, PACAP, secretin, GRF, glucagons, GLP-1, and other members of their new family of G protein-linked receptors: Structure-function relationship with special reference to the human VIP-1 receptor
13. Correlation of phenotype with genotype in inherited retinal degeneration
14. The molecular basis of nephrogenic diabetes insipidus
15. Identification of constitutively activating somatic thyrotropin receptor mutations in a subset of toxic multinodular goiters
16. Hyperfunctioning thyroid adenoma and activating mutations in the TSH receptor gene
17. Beta(2)-adrenergic receptor pharmacogenetics
18. Human adrenoceptor polymorphisms: Evolving recognition of clinical importance
19. Export from the endoplasmic reticulum represents the limiting step in the maturation and cell surface expression of the human opioid receptor
20. Amino-terminal polymorphisms of the human beta 2-adrenergic receptor impart distinct agonist-promoted regulatory properties
21. Genetic polymorphisms of the beta 2-adrenergic receptor in nocturnal and nonnocturnal asthma. Evidence that Gly16 correlates with the nocturnal phenotype
22. Association between genetic polymorphisms of the beta2-adrenoceptor and response to albuterol in children with and without a history of wheezing
23. Impact of genetic polymorphisms of the beta2-adrenergic receptor on albuterol bronchodilator pharmacodynamics
24. Beta2-adrenoceptor polymorphism and bronchoprotective sensitivity with regular short- and long-acting beta2-agonist therapy
25. Effects of genetic polymorphism on ex vivo and in vivo function of beta2-adrenoceptors in asthmatic patients
26. Essential hypertension in African Caribbeans associates with a variant of the beta2-adrenoceptor
27. Beta-2 adrenergic receptor variants affect resting blood pressure and agonist-induced vasodilation in young adult caucasians
28. Beta-2 adrenoceptor genetic variation is associated with genetic predisposition to essential hypertension: The Bergen blood pressure study
29. Beta 2-adrenergic receptor polymorphisms at codon 16, cardiovascular phenotypes and essential hypertension in whites and African Americans
30. Agonist-promoted down-regulation and functional desensitization in two naturally occurring variants of the human serotonin1A receptor
31. A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia
32. 2C receptor gene (HTR2C)
33. Association between clozapine response and allelic variation
34. N-glycosylation in expression and function of beta-adrenergic receptors
35. Decreased transcript expression coincident with impaired glycosylation in the beta2-adrenergic receptor gene does not result from differences in the primary sequence
36. Single-nucleotide polymorphism in the human mu opioid receptor gene alters beta-endorphin binding and activity: Possible implications for opiate addiction
37. A new codon 15 rhodopsin gene mutation in autosomal dominant retinitis pigmentosa is associated with sectorial disease
38. Molecular analysis and genetic mapping of the rhodopsin gene in families with autosomal dominant retinitis pigmentosa
39. Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa. Clustering of functional classes along the polypeptide chain
40. Functional role of proline and tryptophan residues highly conserved among G protein-coupled receptors studied by mutational analysis of the m3 muscarinic receptor
41. Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus
42. Novel mutations of the endothelin B receptor gene in patients with Hirschsprung's disease and their characterization
43. 7] melanocyte stimulating hormone with the human melanocortin-1 receptor
44. Dopamine D4 receptor variant in Africans, D4valine194glycine, is insensitive to dopamine and clozapine: Report of a homozygous individual
45. A mutation in the follicle-stimulating hormone receptor occurs frequently in human ovarian sex cord tumors
46. Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene
47. A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease
48. Dimerization of the delta opioid receptor: Implication for a role in receptor internalization
49. Receptors for dopamine and somatostatin: Formation of hetero-oligomers with enhanced functional activity
50. A peptide derived from a beta2-adrenergic receptor transmembrane domain inhibits both receptor dimerization and activation
51. Dimerization of the extracellular calcium-sensing receptor (CAR) on the cell surface of CaR-transfected HEK293 cells
52. Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyper-parathyroidism
53. A familiar syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor
54. Familial hypoparathyroidism: Identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor
55. Sporadic hypoparathyroidism caused by de novo gain-of-function mutations of the Ca(2+)-sensing receptor
56. In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca(2+)-sensing receptor gene: Normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia
57. Constitutive activation of the alpha 1B-adrenergic receptor by all amino acid substitutions at a single site. Evidence for a region which constrains receptor activation
58. Mutagenic analysis of platelet thromboxane receptor cysteines
59. Expression and function of the gonadotropin-releasing hormone receptor are dependent on a conserved apoloar amino acid in the third intracellular loop
60. Beta-arrestin-dependent desensitization of luteinizing hormone/choriogonadotropin receptor is prevented by a synthetic peptide corresponding to the third intracellular loop of the receptor
61. Internalization and down-regulation of human muscarinic acetylcholine receptor m2 subtypes
62. cAMP-dependent protein kinase and protein kinase C consensus site mutations of the beta-adrenergic receptor. Effect on desensitization and stimulation of adenylylcyclase
63. Pretein kinase C activation stimulates the phosphorylation and internalization of the sst2A somatostatin receptor
64. Structural basis for the binding of proline-rich peptides to SH3 domains
65. SH3 binding domains in the dopamine D4 receptor
66. Identification of the endophilins (SH3p4/p8/p13) as novel binding partners for the b1-adrenergic receptor
67. Allelic association of human dopamine D2 receptor gene in alcoholism
68. Genetic vulnerability to drug abuse. The D2 dopamine receptor Taq I B1 restriction fragment length polymorphism appears more frequently in polysubstance abusers
69. Association of dopamine D2 receptor molecular variant with schizophrenia
70. Association of structural polymorphism of the dopamine D2 receptor gene and alcoholism
71. No association of dopamine D2 receptor molecular variant Cys311 and schizophrenia in Chinese patients
72. A structural polymorphism of human dopamine D2 receptor, D2(Ser311→Cys)
73. No structural mutation in the dopamine D2 receptor gene in alcoholism or schizophrenia. Analysis using denaturing gradient gel electrophoresis
74. 2 dopamine receptor missense variants
75. Cloning of a human dopamine DR receptor gene with high affinity for the antipsychotic clozapine
76. Structural and functional characteristics of the dopamine D4 receptor
77. Mutation of a highly conserved aspartic acid in the beta2 adrenergic receptor: Constitutive activation, structural instability, and conformational rearrangement of transmembrane segment 6
78. Role of the highly conserved Asp-Arg-Tyr motif in signal transduction of the CB2 cannabinoid receptor
79. The effect of mutations in the DRY motif on the constitutive activity and structural instability of the histamine H(2) receptor
80. Constitutively active alpha-1b adrenergic receptor mutants display different phosphorylation and internalization features
81. Mutations of the DRY motif that preserve beta 2-adrenoceptor coupling
82. An arginine residue conserved in most G protein-coupled receptors is essential for the function of the ml muscarinic receptor
83. Mutational analysis of the highly conserved arginine within the Glu/Asp-Arg-Tyr motif of the alpha(lb)-adrenergic receptor: Effects on receptor isomerization and activation
84. Mutations in the vasopressin V2 receptor gene in families with nephrogenic diabetes insipidus and functional expression of the Q-2 mutant
85. Modulation of GDP release from transducin by the conserved Glu134-Arg135 sequence in rhodopsin
86. Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair
87. Constitutive activation of the alpha 1B-adrenergic receptor by all amino acid substitutions at a single site. Evidence for a region which constrains receptor activation
88. 2-adrenergic receptor is constitutively desensitized and phosphorylated
89. 2-adrenergic receptor
90. Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants
91. Site-directed mutagenesis of the rat ml muscarinic acetylcholine receptor. Role of conserved cysteines in receptor function
92. The high affinity state of the beta 2-adrenergic receptor requires unique interaction between conserved and nonconserved extracellular loop cysteines
93. An intramolecular disulfide bond between conserved extracellular cysteines in the gonadotropinreleasing hormone receptor is essential for binding and activation
94. The role of conserved extracellular cysteine residues in vasopressin V2 receptor function and properties of two naturally occurring mutant receptors with additional extracellular cysteine residues
95. Identification of ligand binding residues in extracellular loops of the melanocortin 1 receptor
96. The second extracellular loop of CCR5 is the major determinant of ligand specificity
97. 1 receptor in surface expression and activation process
98. Identification of residues responsible for the selective binding of peptide antagonists and agonists in the V2 vasopressin receptor
99. Removal of phosphorylation sites from the beta 2-adrenergic receptor delays onset of agonist-promoted desensitization
100. Desensitization of the beta 2 adrenergic receptors with mutations of the proposed G protein-coupled receptor kinase phosphorylation sites
101. Dual signaling regulated by calcyon, a D1 dopamine receptor interacting protein
102. Interaction of ion channels and receptors with PDZ domain proteins
103. Homer: A protein that selectively binds metabotropic glutamate receptors
104. 2 receptor polymorphism: Identification and pharmacological characterization of two allelic variants
105. A1A-adrenoreceptor polymorphism: Pharmacological characterization and association with benign prostatic hypertrophy
106. Novel mutations of the endothelin B receptor gene in patients with Hirschsprung's disease and their characterization
107. Palmitoylation of endothelin receptor A. Differential modulation of signal transduction activity by post-translational modification
108. Chimeric mutagenesis of putative G protein coupling domains of the alpha2A-adrenergic receptor. Localization of two redundant and fully competent Gi coupling domains
109. 1-adrenergic receptor
110. Evidence for association between polymorphisms in the promoter and coding regions of the 5-HT2A receptor gene and response to clozapine
111. Differential expression of the beta-adrenergic receptor modifies agonist stimulation of adenylyl cyclase: A quantitative evaluation
112. Narcolepsy in orexin knockout mice: Molecular genetics of sleep regulation
113. The sleep disorder canine narcolepsy is caused by a mutation in the hypocretin (Orexin) receptor 2 gene
114. RNA editing of the human serotonin 5-hydroxytryptamine 2C receptor silences constitutive activity
115. A genetic polymorphism in the promoter region of DRD4 associated with expression and schizophrenia
116. A functional polymorphism in the promoter region of the dopamine D4 receptor gene is associated with schizophrenia
117. -141 C del/ins polymorphism of the dopamine receptor 2 gene is associated with schizophrenia in a British population
118. Selective abnormalities of prefrontal serotonergic receptors in schizophrenia. A postmortem study
119. Schizophrenia and the serotonin-2A receptor promoter polymorphism
120. Association between 5-HT2A gene promoter polymorphism and anorexia nervosa
121. Human 5-HT5A receptor gene: Systematic screening for DNA sequence variation and linkage mapping on chromosome 7q34-q36 using a polymorphism in the 5′ untranslated region
122. A cluster of single nucleotide polymorphisms in the 5′-leader of the human dopamine D3 receptor gene (DRD3) and its relationship to schizophrenia
123. Screening the human bradykinin B2 receptor gene in patients with cardiovascular diseases: Identification of a functional mutation in the promoter and a new coding variant (T21M)
124. CCR5 promoter polymorphism and HIV-1 disease progression. Multicenter AIDS Cohort Study (MACS)
125. Angiotensin II type 1 receptor gene polymorphisms in human essential hypertension
126. Association of angiotensin II type 1 receptor gene polymorphism with essential hypertension
127. Association of angiotensin II type 1 receptor polymorphism with resistant essential hypertension
128. Angiotensis II type 1 receptor gene polymorphism predicts response to losartan and angiotensis II
129. Angiotensin II type 1 receptor gene polymorphism and mitral valve prolapse syndrome
130. Angiotensin-converting enzyme and angiotensin II receptor 1 polymorphisms: Association with early coronary disease
131. Recognition of AUG and alternative initiator codons is augmented by G in position +4 but is not generally affected by the nucleotides in positions +5 and +6
132. The peptide product of a 5′ leader cistron in the beta 2 adrenergic receptor mRNA inhibits receptor synthesis
133. Polymorphisms of the 5′ leader cistron of the human beta2-adrenergic receptor regulate receptor expression
134. Identification of novel polymorphisms within the promoter region of the human beta2 adrenergic receptor gene
135. Polymorphism in the 5′-leader cistron of the beta2-adrenergic receptor gene associated with obesity and type 2 diabetes
136. Cloning of the cDNA and gene for a human D2 dopamine receptor
137. The calcium sensing receptor and its alternatively spliced form in keratinocyte differentiation
138. Molecular characterization of a novel human endothelin receptor splice variant
139. Novel brain-specific 5-HT4 receptor splice variants show marked constitutive activity: Role of the C-terminal intracellular domain
140. 5-HT4 receptors: Gene, transduction and effects on olfactory memory
141. A frameshift mutation in human MC4R is associated with a dominant form of obesity
142. A frameshift mutation in MC4R associated with dominantly inherited human obesity
143. Resistance to HIV-1 infection in Caucasian individuals beating mutant alleles of the CCR-5 chemokine receptor gene
144. Genotype and allele frequency of a 32-base pair deletion mutation in the CCR5 gene in various ethnic groups: Absence of mutation among Asians and Pacific Islanders
145. Association of CCR5 delta32 with reduced risk of asthma
146. The world-wide distribution of allele frequencies at the human dopamine D4 receptor locus
147. Frequency of functionally important beta-2 adrenoceptor polymorphisms varies markedly among African-American. Caucasian and Chinese individuals
148. High polymorphism at the human melanocortin 1 receptor locus
149. Are there beta-adrenergic receptor response differences between racial groups?
150. Racial differences in epinephrine and beta 2-adrenergic receptors