Membrane-spanning 4-domains subfamily A, MS4A cluster

Genetic variants in Alzheimer's disease

Volumn , Issue , 2013, Pages 159-179

  Brown, Kristelle ^a   Turton, James ^a   Morgan, Kevin ^a  

^a UNIVERSITY OF NOTTINGHAM   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84929566678     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-1-4614-7309-1_8     Document Type: Chapter

References (87)

1. Liang Y, Tedder TF (2001) Identification of a CD20-, FcepsilonRIbeta-, and HTm4-related gene family: sixteen new MS4A family members expressed in human and mouse. Genomics 72(2):119-127
2. Hemler ME (2001) Specific tetraspanin functions. J Cell Biol 155(7):1103-1107
3. Ishibashi K et al (2001) Identification of a new multigene four-transmembrane family (MS4A) related to CD20, HTm4 and beta subunit of the high-affinity IgE receptor. Gene 264(1):87-93
4. Liang Y et al (2001) Structural organization of the human MS4A gene cluster on Chromosome 11q12. Immunogenetics 53(5):357-368
5. Beers SA et al (2010) CD20 as a target for therapeutic type I and II monoclonal antibodies. Semin Hematol 47(2):107-114
6. Kinet JP (1999) The high-affinity IgE receptor (Fc epsilon RI): from physiology to pathology. Annu Rev Immunol 17:931-972
7. Lim SH et al (2010) Anti-CD20 monoclonal antibodies: historical and future perspectives. Haematologica 95(1):135-143
8. Antunez C et al (2011) The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease. Genome Med 3(5):33
9. Hollingworth P et al (2011) Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet 43(5):429-435
10. Morgan K (2011) The three new pathways leading to Alzheimer's disease. Neuropathol Appl Neurobiol 37(4):353-357
11. Naj AC et al (2011) Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet 43(5):436-441
12. Hermes M, Eichhoff G, Garaschuk O (2010) Intracellular calcium signalling in Alzheimer's disease. J Cell Mol Med 14(1-2):30-41
13. LaFerla FM (2002) Calcium dyshomeostasis and intracellular signalling in Alzheimer's disease. Nat Rev Neurosci 3(11):862-872
14. Marambaud P, Dreses-Werringloer U, Vingtdeux V (2009) Calcium signaling in neurodegeneration. Mol Neurodegener 4:20
15. Seaton G et al (2011) Sensing change: The emerging role of calcium sensors in neuronal disease. Semin Cell Dev Biol 22(5):530-535
16. Zundorf G, Reiser G (2011) Calcium dysregulation and homeostasis of neural calcium in the molecular mechanisms of neurodegenerative diseases provide multiple targets for neuroprotection. Antioxid Redox Signal 14(7):1275-1288
17. Walshe CA et al (2008) Induction of cytosolic calciumflux by CD20 is dependent upon B Cell antigen receptor signaling. J Biol Chem 283(25):16971-16984
18. Polyak MJ et al (2008) CD20 homo-oligomers physically associate with the B cell antigen receptor. Dissociation upon receptor engagement and recruitment of phosphoproteins and calmodulin-binding proteins. J Biol Chem 283(27):18545-18552
19. Polyak MJ, Deans JP (2002) Alanine-170 and proline-172 are critical determinants for extracellular CD20 epitopes; heterogeneity in thefine specificity of CD20 monoclonal antibodies is defined by additional requirements imposed by both amino acid sequence and quaternary structure. Blood 99(9):3256-3262
20. Nadler LM et al (1981) A unique cell surface antigen identifying lymphoid malignancies of B cell origin. J Clin Invest 67(1):134-140
21. Golay JT, Clark EA, Beverley PC (1985) The CD20 (Bp35) antigen is involved in activation of B cells from the G0 to the G1 phase of the cell cycle. J Immunol 135(6):3795-3801
22. Clark EA, Shu G, Ledbetter JA (1985) Role of the Bp35 cell surface polypeptide in human B-cell activation. Proc Natl Acad Sci U S A 82(6):1766-1770
23. Bubien JK et al (1993) Transfection of the CD20 cell surface molecule into ectopic cell types generates a Ca2+ conductance found constitutively in B lymphocytes. J Cell Biol 121(5):1121-1132
24. Dombrowicz D et al (1998) Allergy-associated FcRbeta is a molecular amplifier of IgE-and IgG-mediated in vivo responses. Immunity 8(4):517-529
25. Lin S et al (1996) The Fc(epsilon)RIbeta subunit functions as an amplifier of Fc(epsilon) RIgamma-mediated cell activation signals. Cell 85(7):985-995
26. Furumoto Y et al (2004) The FcepsilonRIbeta immunoreceptor tyrosine-based activation motif exerts inhibitory control on MAPK and IkappaB kinase phosphorylation and mast cell cytokine production. J Biol Chem 279(47):49177-49187
27. Suzuki Y et al (2008) The high-affinity immunoglobulin E receptor (FcepsilonRI) regulates mitochondrial calcium uptake and a dihydropyridine receptor-mediated calcium influx in mast cells: Role of the FcepsilonRIbeta chain immunoreceptor tyrosine-based activation motif. Biochem Pharmacol 75(7):1492-1503
28. Yoshimaru T et al (2006) Silver activates mast cells through reactive oxygen species production and a thiol-sensitive store-independent Ca2+ influx. Free Radic Biol Med 40(11): 1949-1959
29. Adra CN et al (1994) Cloning of the cDNA for a hematopoietic cell-specific protein related to CD20 and the beta subunit of the high-affinity IgE receptor: evidence for a family of proteins with four membrane-spanning regions. Proc Natl Acad Sci U S A 91(21):10178-10182
30. Donato JL et al (2002) Human HTm4 is a hematopoietic cell cycle regulator. J Clin Invest 109(1):51-58
31. Kutok JL et al (2011) Characterization of the expression of HTm4 (MS4A3), a cell cycle regulator, in human peripheral blood cells and normal and malignant tissues. J Cell Mol Med 15(1):86-93
32. Kutok JL et al (2005) The cell cycle associated protein, HTm4, is expressed in differentiating cells of the hematopoietic and central nervous system in mice. J Mol Histol 36(1-2):77-87
33. Johnson AD et al (2008) SNAP: A web-based tool for identification and annotation of proxy SNPs using HapMap. Bioinformatics 24(24):2938-2939
34. Harold D et al (2009) Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet 41(10):1088-1093
35. Marchler-Bauer A et al (2011) CDD: A Conserved Domain Database for the functional annotation of proteins. Nucleic Acids Res 39(Database issue):D225-D229
36. Polyak MJ, Tailor SH, Deans JP (1998) Identification of a cytoplasmic region of CD20 required for its redistribution to a detergent-insoluble membrane compartment. J Immunol 161(7):3242-3248
37. Tedder TF et al (1988) Isolation and structure of a cDNA encoding the B1 (CD20) cell-surface antigen of human B lymphocytes. Proc Natl Acad Sci U S A 85(1):208-212
38. Oettgen HC et al (1983) Further biochemical studies of the human B-cell differentiation antigens B1 and B2. Hybridoma 2(1):17-28
39. Teeling JL et al (2006) The biological activity of human CD20 monoclonal antibodies is linked to unique epitopes on CD20. J Immunol 177(1):362-371
40. Du J et al (2007) Structural basis for recognition of CD20 by therapeutic antibody Rituximab. J Biol Chem 282(20):15073-15080
41. Ernst JA et al (2005) Isolation and characterization of the B-cell marker CD20. Biochemistry 44(46):15150-15158
42. Treanor B (2012) B-cell receptor: from resting state to activate. Immunology 136(1):21-27
43. Petrie RJ, Deans JP (2002) Colocalization of the B cell receptor and CD20 followed by activation-dependent dissociation in distinct lipid rafts. J Immunol 169(6):2886-2891
44. Li H et al (2004) The CD20 calcium channel is localized to microvilli and constitutively associated with membrane rafts: antibody binding increases the affinity of the association through an epitope-dependent cross-linking-independent mechanism. J Biol Chem 279(19): 19893-19901
45. Kanzaki M et al (1995) Expression of calcium-permeable cation channel CD20 accelerates progression through the G1 phase in Balb/c 3T3 cells. J Biol Chem 270(22):13099-13104
46. Li H et al (2003) Store-operated cation entry mediated by CD20 in membrane rafts. J Biol Chem 278(43):42427-42434
47. Deans JP, Li H, Polyak MJ (2002) CD20-mediated apoptosis: signalling through lipid rafts. Immunology 107(2):176-182
48. Leveille C, AL-Daccak R, Mourad W (1999) CD20 is physically and functionally coupled to MHC class II and CD40 on human B cell lines. Eur J Immunol 29(1):65-74
49. Szollosi J et al (1996) Supramolecular complexes of MHC class I, MHC class II, CD20, and tetraspan molecules (CD53, CD81, and CD82) at the surface of a B cell line JY. J Immunol 157(7):2939-2946
50. Field KA, Holowka D, Baird B (1995) Fc epsilon RI-mediated recruitment of p53/56lyn to detergent-resistant membrane domains accompanies cellular signaling. Proc Natl Acad Sci U S A 92(20):9201-9205
51. Field KA, Holowka D, Baird B (1997) Compartmentalized activation of the high affinity immunoglobulin E receptor within membrane domains. J Biol Chem 272(7):4276-4280
52. Donnadieu E, Jouvin MH, Kinet JP (2000) A second amplifier function for the allergyassociated Fc(epsilon)RI-beta subunit. Immunity 12(5):515-523
53. Singleton TE et al (2009) Thefirst transmembrane region of the beta-chain stabilizes the tetrameric Fc epsilon RI complex. Mol Immunol 46(11-12):2333-2339
54. Cruse G et al (2010) A novel FcepsilonRIbeta-chain truncation regulates human mast cell proliferation and survival. FASEB J 24(10):4047-4057
55. Akizawa Y et al (2003) Regulation of human FcepsilonRI beta chain gene expression by Oct-1. Int Immunol 15(5):549-556
56. Takahashi K et al (2003) Regulation of the human high affinity IgE receptor beta-chain gene expression via an intronic element. J Immunol 171(5):2478-2484
57. Ovcharenko I et al (2004) ECR Browser: A tool for visualizing and accessing data from comparisons of multiple vertebrate genomes. Nucleic Acids Res 32(Web Server issue):W280-W286
58. Allen M et al (2012) Novel late-onset Alzheimer disease loci variants associate with brain gene expression. Neurology 79(3):221-228
59. Karch CM et al (2012) Expression of novel Alzheimer's disease risk genes in control and Alzheimer's disease brains. PLoS One 7(11):e50976
60. Berridge MJ, Bootman MD, Roderick HL (2003) Calcium signalling: dynamics, homeostasis and remodelling. Nat Rev Mol Cell Biol 4(7):517-529
61. Cho SH et al (2011) CX3CR1 protein signaling modulates microglial activation and protects against plaque-independent cognitive deficits in a mouse model of Alzheimer disease. J Biol Chem 286(37):32713-32722
62. Kauppinen TM et al (2011) Poly(ADP-ribose)polymerase-1 modulates microglial responses to amyloid beta. J Neuroinflammation 8:152
63. Prat A et al (2011) A novel mouse model of Alzheimer's disease with chronic estrogen defi-ciency leads to glial cell activation and hypertrophy. J Aging Res 2011:251517
64. Sailasuta N et al (2011) Minimally invasive biomarker confirms glial activation present in Alzheimer's disease: A preliminary study. Neuropsychiatr Dis Treat 7:495-499
65. Song M et al (2011) TLR4 mutation reduces microglial activation, increases Abeta deposits and exacerbates cognitive deficits in a mouse model of Alzheimer's disease. J Neuroinflammation 8:92
66. D'Andrea MR, Cole GM, Ard MD (2004) The microglial phagocytic role with specific plaque types in the Alzheimer disease brain. Neurobiol Aging 25(5):675-683
67. Heneka MT, O'Banion MK (2007) Inflammatory processes in Alzheimer's disease. J Neuroimmunol 184(1-2):69-91
68. Meyer-Luehmann M et al (2008) Rapid appearance and local toxicity of amyloid-beta plaques in a mouse model of Alzheimer's disease. Nature 451(7179):720-724
69. Nagele RG et al (2004) Contribution of glial cells to the development of amyloid plaques in Alzheimer's disease. Neurobiol Aging 25(5):663-674
70. Rodriguez JJ et al (2010) Increase in the density of resting microglia precedes neuritic plaque formation and microglial activation in a transgenic model of Alzheimer's disease. Cell Death Dis 1:e1
71. Mackic JB et al (1998) Cerebrovascular accumulation and increased blood-brain barrier permeability to circulating Alzheimer's amyloid beta peptide in aged squirrel monkey with cerebral amyloid angiopathy. J Neurochem 70(1):210-215
72. Popescu BO et al (2009) Blood-brain barrier alterations in ageing and dementia. J Neurol Sci 283(1-2):99-106
73. Schindowski K et al (2007) Increased T-cell reactivity and elevated levels of CD8+ memory T-cells in Alzheimer's disease-patients and T-cell hyporeactivity in an Alzheimer's diseasemouse model: implications for immunotherapy. Neuromolecular Med 9(4):340-354
74. Togo T et al (2002) Occurrence of T cells in the brain of Alzheimer's disease and other neurological diseases. J Neuroimmunol 124(1-2):83-92
75. Trieb K et al (1996) APP peptides stimulate lymphocyte proliferation in normals, but not in patients with Alzheimer's disease. Neurobiol Aging 17(4):541-547
76. Loewenbrueck KF et al (2010) Th1 responses to beta-amyloid in young humans convert to regulatory IL-10 responses in Down syndrome and Alzheimer's disease. Neurobiol Aging 31(10):1732-1742
77. Dropp JJ (1979) Mast cells in the human brain. Acta Anat (Basel) 105(4):505-513
78. Goldschmidt RC et al (1984) Mast cells in rat thalamus: nuclear localization, sex difference and left-right asymmetry. Brain Res 323(2):209-217
79. Hough LB (1988) Cellular localization and possible functions for brain histamine: recent progress. Prog Neurobiol 30(6):469-505
80. Lambracht-Hall M, Dimitriadou V, Theoharides TC (1990) Migration of mast cells in the developing rat brain. Brain Res Dev Brain Res 56(2):151-159
81. Silver R et al (1996) Mast cells in the brain: evidence and functional significance. Trends Neurosci 19(1):25-31
82. Florenzano F, Bentivoglio M (2000) Degranulation, density, and distribution of mast cells in the rat thalamus: A light and electron microscopic study in basal conditions and after intracerebroventricular administration of nerve growth factor. J Comp Neurol 424(4):651-669
83. Nakae S et al (2006) Mast cells enhance T cell activation: importance of mast cell costimulatory molecules and secreted TNF. J Immunol 176(4):2238-2248
84. Gri G et al (2008) CD4+CD25+ regulatory T cells suppress mast cell degranulation and allergic responses through OX40-OX40L interaction. Immunity 29(5):771-781
85. Piconese S et al (2009) Mast cells counteract regulatory T-cell suppression through interleukin-6 and OX40/OX40L axis toward Th17-cell differentiation. Blood 114(13):2639-2648
86. Hershko AY, Rivera J (2010) Mast cell and T cell communication; amplification and control of adaptive immunity. Immunol Lett 128(2):98-104
87. Sayed BA et al (2010) Meningeal mast cells affect early T cell central nervous system infiltration and blood-brain barrier integrity through TNF: A role for neutrophil recruitment? J Immunol 184(12):6891-6900