Mouse serpins and transgenic studies

Molecular and Cellular Aspects of the Serpinopathies and Disorders in Serpin Activity

Volumn , Issue , 2007, Pages 101-129

  Askew, David J ^a   Coughlin, Paul ^b   Bird, Phillip I ^b  

^a UNIVERSITY OF PITTSBURGH   (United States)

^b MONASH UNIVERSITY   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84967592906     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1142/9789812707543_0004     Document Type: Chapter

References (95)

1. Silverman GA, Bird PI, Carrell RW, et al. (2001) The serpins are an expanding superfamily of structurally similar but functionally diverse proteins. Evolution, mechanism of inhibition, novel functions, and a revised nomenclature. J Biol Chem 276(36):33293-33296.
2. Irving JA, Pike RN, Lesk AM and Whisstock JC (2000) Phylogeny of the serpin superfamily: Implications of patterns of amino acid conservation for structure and function. Genome Res 10(12):1845-1864.
3. Puente XS, Sanchez LM, Gutierrez-FernandezA, VelascoGand Lopez-Otin C(2005)A genomic view of the complexity of mammalian proteolytic systems. Biochem Soc Trans 33(Pt 2):331-334.
4. Puente XS, Sanchez LM, Overall CM and Lopez-Otin C (2003) Human and mouse proteases: A comparative genomic approach. Nat Rev Genet 4(7):544-558.
5. Charron Y, Madani R, Nef S, et al.(2005) Expression of Serpinb6 Serpins in Germ and Somatic Cells of Mouse Gonads. Mol Reprod Develop.
6. Forsyth S, Horvath A and Coughlin P (2003) A review and comparison of the murine alpha1-antitrypsin and alpha1-antichymotrypsin multigene clusters with the human clade A serpins. Genomics 81(3):336-345.
7. Kaiserman D, Knaggs S, Scarff KL, et al. (2002) Comparison of human chromosome 6p25 with mouse chromosome 13 reveals a greatly expanded ov-serpin gene repertoire in the mouse. Genomics 79(3):349-362.
8. AskewDJ,AskewYS,KatoY, et al. (2004) Comparative genomic analysis of the clade B serpin cluster at human chromosome 18q21: Amplification within the mouse squamous cell carcinoma antigen gene locus. Genomics 84(1):176-184.
9. Barbour KW, Goodwin RL, Guillonneau F, Wang Y, Baumann H and Berger FG (2002) Functional diversification during evolution of the murine alpha(1)- proteinase inhibitor family: Role of the hypervariable reactive center loop. Mol Biol Evol 19(5):718-727.
10. Hughes AL(2002) Natural selection and the diversification of vertebrate immune effectors. Immunol Rev 190:161-168.
11. Ishiguro K, Kojima T, Kadomatsu K, et al. (2000) Complete antithrombin deficiency in mice results in embryonic lethality. J Clin Invest 106 (7):873-878.
12. He L, Vicente CP, Westrick RJ, Eitzman DT and TollefsenDM(2002) Heparin cofactor II inhibits arterial thrombosis after endothelial injury. J Clin Invest 109(2):213-219.
13. Vicente CP, He L, PavaoMS and TollefsenDM(2004) Antithrombotic activity of dermatan sulfate in heparin cofactor II-deficient mice. Blood 104(13):3965-3970.
14. Uhrin P, Dewerchin M, Hilpert M, et al. (2000) Disruption of the protein C inhibitor gene results in impaired spermatogenesis and male infertility. J Clin Invest 106(12):1531-1539.
15. Hayashi T, Nishioka J, Kamada H, et al. (2004) Characterization of a novel human protein C inhibitor (PCI) gene transgenic mouse useful for studying the role of PCI in physiological and pathological conditions. J Thromb Haemost 2(6):949-961.
16. Lijnen HR, Okada K, Matsuo O, Collen D and Dewerchin M (1999) Alpha2- antiplasmin gene deficiency in mice is associated with enhanced fibrinolytic potential without overt bleeding. Blood 93(7):2274-2281.
17. Kim HS, Krege JH, Kluckman KD, et al. (1995) Genetic control of blood pressure and the angiotensinogen locus. Proc Natl Acad Sci USA 92(7):2735-2739.
18. Davisson RL, Kim HS, Krege JH, Lager DJ, Smithies O and Sigmund CD (1997) Complementation of reduced survival, hypotension, and renal abnormalities in angiotensinogen-deficient mice by the human renin and human angiotensinogen genes. J Clin Invest 99(6):1258-1264.
19. Han ED, MacFarlane RC, Mulligan AN, Scafidi J and Davis AE III (2002) Increased vascular permeability in C1 inhibitor-deficient mice mediated by the bradykinin type 2 receptor.[see comment]. J Clin Invest 109(8):1057-1063.
20. Funatsu H, Yamashita H, Nakamura S, et al.(2006)Vitreous levels of pigment epithelium-derived factor and vascular endothelial growth factor are related to diabetic macular edema. Ophthalmology 113(2):294-301.
21. Doll JA, Stellmach VM, Bouck NP, et al. (2003) Pigment epithelium-derived factor regulates the vasculature and mass of the prostate and pancreas. Nat Med 9(6):774-780.
22. Duh EJ, Yang HS, Suzuma I, et al. (2002) Pigment epithelium-derived factor suppresses ischemia-induced retinal neovascularization and VEGF-induced migration and growth. Invest Ophthalmol Vis Sci 43(3):821-829.
23. Mori K, Gehlbach P, Yamamoto S, et al. (2002) AAV-mediated gene transfer of pigment epithelium-derived factor inhibits choroidal neovascularization. Invest Ophthalmol Vis Sci 43(6):1994-2000.
24. Gao F, ShiHY, DaughtyC, CellaNand ZhangM(2004) Maspin plays an essential role in early embryonic development. Development 131(7):1479-1489.
25. Park JM, Greten FR, Wong A, et al. (2005) Signaling pathways and genes that inhibit pathogen-induced macrophage apoptosis-CREB and NF-kappaB as key regulators. Immunity 23(3):319-329.
26. Dougherty KM, Pearson JM,YangAY, Westrick RJ, BakerMSand GinsburgD (1999) The plasminogen activator inhibitor-2 gene is not re quired for normal murine development or survival. Proc Natl Acad Sci USA 96(2):686-691.
27. Zhang M, Park SM,WangY, et al. (2006) Serine protease inhibitor 6 protects cytotoxicTcells from self-inflicted injury by ensuring the integrity of cytotoxic granules. Immunity 24(4):451-461.
28. Bird CH SV, Sun J, Hirst CE, Novak A, Kumar S, Trapani JA and Bird PI (1998) Selective regulation of apoptosis: The cytotoxic lymphocyte serpin proteinase inhibitor 9 protects against granzyme B-mediated apoptosis without perturbing the Fascell death pathway. Mol Cell Biol 18(11):6387-6398.
29. Scarff KL, Ung KS, Nandurkar H, Crack PJ, Bird CH and Bird PI (2004) Targeted disruption of SPI3/Serpinb6 does not result in developmental or growth defects, leukocyte dysfunction, or susceptibility to stroke. Mol Cell Biol 24(9):4075-4082.
30. Scarff KL, Ung KS, Sun J and Bird PI (2003) A retained selection cassette increases reporter gene expression without affecting tissue distribution in SPI3 knockout/GFP knock-in mice. Genesis: J Genet Develop 36(3):149-157.
31. Vivien D and Buisson A (2000) Serine protease inhibitors: Novel therapeutic targets for stroke? J Cereb Blood Flow Metab 20(5):755-764.
32. Yepes M and Lawrence DA (2004) New functions for an old enzyme: Nonhemostatic roles for tissue-type plasminogen activator in the central nervous system. Exp Biol Med (Maywood) 229(11):1097-1104.
33. Miranda E and Lomas DA (2006) Neuroserpin: A serpin to think about. Cell Mol Life Sci
34. Madani R, Kozlov S, Akhmedov A, et al. (2003) Impaired explorative behavior and neophobia in genetically modified mice lacking or overexpressing the extracellular serine protease inhibitor neuroserpin. Mol Cell Neurosci 23(3):473-494.
35. Cinelli P, Madani R, Tsuzuki N, et al. (2001) Neuroserpin, a neuroprotective factor in focal ischemic stroke. Mol Cell Neurosci 18(5):443-457.
36. Yepes M, Sandkvist M, ColemanTA, et al. (2002) Regulation of seizure spreading by neuroserpin and tissue-type plasminogen activator is plasminogenindependent. J Clin Invest 109(12):1571-1578.
37. Yepes M, Sandkvist M, Moore EG, Bugge TH, Strickl DK and Lawrence DA (2003) Tissue-type plasminogen activator induces opening of the blood-brain barrier via the LDL receptor-related protein. J Clin Invest 112(10):1533-1540.
38. HuangYY, Bach ME, Lipp HP, et al. (1996) Mice lacking the gene encoding tissue-type plasminogen activator showa selective interference with late-phase long-term potentiation in both Schaffer collateral and mossy fiber pathways. Proc Natl Acad Sci USA 93(16):8699-8704.
39. Seeds NW, Basham ME and Haffke SP (1999) Neuronal migration is retarded in mice lacking the tissue plasminogen activator gene. Proc Natl Acad Sci USA 96(24):14118-14123.
40. Seeds NW, Basham ME and Ferguson JE (2003) Absence of tissue plasminogen activator gene or activity impairs mouse cerebellar motor learning. J Neurosci 23(19):7368-7375.
41. Pawlak R, Magarinos AM, Melchor J, McEwen B and Strickland S (2003) Tissue plasminogen activator in the amygdala is critical for stress-induced anxiety-like behavior. Nat Neurosci 6 (2):168-174.
42. Tsirka SE, Gualandris A, Amaral DG and Strickland S (1995) Excitotoxininduced neuronal degeneration and seizure are mediated by tissue plasminogen activator. Nature 377(6547):340-344.
43. LuthiA, Van der PuttenH, BotteriFM, et al. (1997) Endogenous serine protease inhibitor modulates epileptic activity and hippocampal long-term potentiation. J Neurosci 17(12):4688-4699.
44. Kvajo M, Albrecht H, Meins M, et al. (2004) Regulation of brain proteolytic activity is necessary for the in vivo function of NMDA receptors. J Neurosci 24(43):9734-9743.
45. Hengst U, Albrecht H, Hess D and Monard D (2001) The phosphatidylethanolamine-binding protein is the prototype of a novel family of serine protease inhibitors. J Biol Chem 276(1):535-540.
46. Meins M, Piosik P, Schaeren-Wiemers N, et al. (2001) Progressive neuronal and motor dysfunction in mice overexpressing the serine protease inhibitor protease nexin-1 in postmitotic neurons. J Neurosci 21(22):8830-8841.
47. Carrell RW(2005) Cell toxicity and conformational disease. Trends Cell Biol 15(11):574-580.
48. Crowther DC, Belorgey D, Miranda E, Kinghorn KJ, Sharp LK and Lomas DA (2004) Practical genetics: Alpha-1-antitrypsin deficiency and the serpinopathies. European J Hum Genet 12(3):167-172.
49. Mahadeva R, Atkinson C, Li Z, et al. (2005) Polymers of Z alpha1-antitrypsin co-localize with neutrophils in emphysematous alveoli and are chemotactic in vivo. Am J Pathol 166(2):377-386.
50. Dycaico MJ, Grant SG, Felts K, et al. (1988) Neonatal hepatitis induced by alpha 1-antitrypsin: A transgenic mouse model. Science 242(4884):1409-1412.
51. Carlson JA, Rogers BB, Sifers RN, et al. (1989) Accumulation of PiZ alpha 1-antitrypsin causes liver damage in transgenic mice. J Clin Invest 83(4):1183-1190.
52. AliR, Perfumo S, della Rocca C, et al. (1994) Evaluation of a transgenic mouse model for alpha-1-antitrypsin (AAT) related liver disease. Ann Hum Genet 58 (Pt 4):305-320.
53. Burrows JA, Willis LK and Perlmutter DH (2000) Chemical chaperones mediate increased secretion of mutant alpha 1-antitrypsin (alpha 1-AT) Z:A potential pharmacological strategy for prevention of liver injury and emphysema in alpha 1-AT deficiency. Proc Natl Acad Sci USA 97(4):1796-1801.
54. ChurgA, Wang RD, Xie C and Wright JL (2003) Alpha-1-antitrypsin ameliorates cigarette smoke-induced emphysema in the mouse [see comment]. Am J Resp Crit Care Med 168(2):199-207.
55. WHO (1997) Alpha 1-antitrypsin deficiency: memorandum from a WHO meeting. Bull World Health Organization 75(5):397-415.
56. Dragani TA (2003) 10 years of mouse cancer modifier loci: Human relevance. Cancer Res 63(12):3011-3018.
57. Guo Z, Mori M, Fu X, et al. (2002) Amyloidosis modifier genes in the less amyloidogenic a/j mouse strain. Lab Invest 83(11):1605-1613.
58. Falvella FS, Pascale RM, GariboldiMet al. (2002) Stearoyl-CoA desaturase 1 (Scd1) gene overexpression is associated with genetic predisposition to hepatocarcinogenesis in mice and rats. Carcinogenesis 23(11):1933-1936.
59. Wright JL and Churg A (2002) Animal models of cigarette smoke-induced COPD. Chest 122(6 Suppl):301S-306S.
60. Davis RL, Shrimpton AE, Holohan PD, et al. (1999) Familial dementia caused by polymerization of mutant neuroserpin. Nature 401(6751):376-379.
61. Inagi R, Nangaku M, Usuda N, et al. (2005) Novel serpinopathy in rat kidney and pancreas induced by overexpression of megsin. J Am Soc Nephrol 16(5):1339-1349.
62. He S, Lin YL and Liu YX (1999) Functionally inactive protein C inhibitor in seminal plasma may be associated with infertility. Mol Hum Reprod 5(6):513-519.
63. Stenflo J, Kjellberg M, Strandberg K, Svensson PJ, Kolbel T and Lindblad B (2006) The complex between activated protein C and protein C inhibitor: A clinically useful indicator of aortic aneurysms? Blood Cells Mol Dis 36(2):118-121.
64. Bhiladvala P, StrandbergK, Stenflo J and Holm J (2005) Early identification of acute myocardial infarction by activated protein C-proteinCinhibitor complex. Thromb Res
65. Ding Y, Stec DE and Sigmund CD (2001) Genetic evidence that lethality in angiotensinogen-deficient mice is due to loss of systemic but not renal angiotensinogen. J Biol Chem 276(10):7431-7436.
66. Zhou HM, Bolon I, Nichols A, Wohlwend A and Vassalli JD (2005) Overexpression of plasminogen activator inhibitor type 2 in basal keratinocytes enhances papilloma formation in transgenicmice. Cancer Res 61(3):970-976.
67. Shi HY, Lydon JP and Zhang M (2004) Hormonal defect in maspin heterozygous mice reveals a role of progesterone in pubertal ductal development. Mol Endocrinol 18(9):2196-2207.
68. Zhang M, Magit D, Botteri F, et al. (1999) Maspin plays an important role in mammary gland development. Develop Biol 215(2):278-287.
69. Zhang M, Shi Y, Magit D, Furth PA and Sager R (2002) Reduced mammary tumor progression in WAP-TAg/WAP-maspin bitransgenic mice. Oncogene 19(52):6053-6058.
70. DewerchinM, Herault JP, Wallays G, et al. (2003) Life-threatening thrombosis in mice with targeted Arg48-to-Cys mutation of the heparin-binding domain of antithrombin. Circ Res 93(11):1120-1126.
71. Yanada M, Kojima T, Ishiguro K, et al. (2002) Impact of antithrombin deficiency in thrombogenesis: lipopolysaccharide and stress-induced thrombus formation in heterozygous antithrombin-deficient mice. Blood 99(7):2455-2458.
72. Bernardi F, Legnani C, Micheletti F, et al.(1996)Aheparin cofactor II mutation (HCII Rimini) combined with factor V Leiden or type I protein C deficiency in two unrelated thrombophilic subjects. Thromb Haemost 76(4):505-509.
73. Tollefsen DM (2002) Heparin cofactor II deficiency. Arch Pathol Lab Med 126(11):1394-1400.
74. Erickson LA, Fici GJ, Lund JE, Boyle TP, Polites HG and Marotti KR (1990) Development of venous occlusions in mice transgenic for the plasminogen activator inhibitor-1 gene. Nature 346(6279):74-76.
75. Eren M, Painter CA, Atkinson JB, Declerck PJ and Vaughan DE (2002) Agedependent spontaneous coronary arterial thrombosis in transgenic mice that express a stable form of human plasminogen activator inhibitor-1. Circulation 106(4):491-496.
76. Carmeliet P, Stassen JM, Schoonjans L, et al. (1993) Plasminogen activator inhibitor-1 gene-deficient mice. II. Effects on hemostasis, thrombosis, and thrombolysis. J Clin Invest 92(6):2756-2760.
77. Meade TW, Ruddock V, Stirling Y, Chakrabarti R and Miller GJ (1993) Fibrinolytic activity, clotting factors, and long-term incidence of ischaemic heart disease in the Northwick Park Heart Study. Lancet 342(8879):1076-1079.
78. Yamamoto K, Takeshita K, Shimokawa T, et al. (2002) Plasminogen activator inhibitor-1 is a major stress-regulated gene: Implications for stress-induced thrombosis in aged individuals. Proc Natl Acad Sci USA 99(2):890-895.
79. Oda T, JungYO, Kim HS, et al. (2001) PAI-1 deficiency attenuates the fibrogenic response to ureteral obstruction. Kidney Int 60(2):587-596.
80. Eitzman DT, Westrick RJ, Xu Z, Tyson J and Ginsburg D (2000) Plasminogen activator inhibitor-1 deficiency protects against atherosclerosis progression in the mouse carotid artery. Blood 96(13):4212-4215.
81. Schafer K, Fujisawa K, Konstantinides S and Loskutoff DJ (2001) Disruption of the plasminogen activator inhibitor 1 gene reduces the adiposity and improves the metabolic profile of genetically obese and diabetic ob/ob mice. Faseb J 15(10):1840-1842.
82. Ma LJ, Mao SL, Taylor KL, et al. (2004) Prevention of obesity and insulin resistance in mice lacking plasminogen activator inhibitor 1. Diabetes 53(2):336-346.
83. Bajou K, Maillard C, Jost M, et al. (2004) Host-derived plasminogen activator inhibitor-1 (PAI-1) concentration is critical for in vivo tumoral angiogenesis and growth. Oncogene 23(41):6986-6990.
84. McMahon GA, Petitclerc E, Stefansson S, et al. (2001) Plasminogen activator inhibitor-1 regulates tumor growth and angiogenesis. J Biol Chem 276(36):33964-33968.
85. Devy L, Blacher S, Grignet-Debrus C, et al. (2002) The pro- or antiangiogenic effect of plasminogen activator inhibitor 1 is dose dependent. Faseb J 16(2):147-154.
86. MurerV, Spetz JF, Hengst U, Altrogge LM, deAgostiniAand MonardD(2001) Male fertility defects in mice lacking the serine protease inhibitor protease nexin-1. Proc Natl Acad Sci USA 98(6):3029-3033.
87. Holekamp NM, Bouck N and Volpert O (2002) Pigment epithelium-derived factor is deficient in the vitreous of patients with choroidal neovascularization due to age-related macular degeneration. Am J Ophthalmol 134(2):220-227.
88. Bouck N (2002) PEDF: anti-angiogenic guardian of ocular function. Trends Mol Med 8(7):330-334.
89. Matsuoka Y, Kubota H, Adachi E, et al. (2004) Insufficient folding of type IV collagen and formation of abnormal basement membrane-like structure in embryoid bodies derived from Hsp47-null embryonic stem cells. Mol Biol Cell 15(10):4467-4475.
90. Nagai N, Hosokawa M, Itohara S, et al. (2000) Embryonic lethality of molecular chaperone hsp47 knockout mice is associated with defects in collagen biosynthesis. J Cell Biol 150(6):1499-1506.
91. Loftus SK, Cannons JL, IncaoA, et al.(2005)Acinar cell apoptosis in Serpini2- deficient mice models pancreatic insufficiency. PLoS Genet 1(3):e38.
92. Yepes M, Sandkvist M, Wong MK, et al. (2000) Neuroserpin reduces cerebral infarct volume and protects neurons from ischemia-induced apoptosis. Blood 96(2):569-576.
93. Wu YP, Siao CJ, Lu W, et al. (2000) The tissue plasminogen activator (tPA)/plasmin extracellular proteolytic system regulates seizure-induced hippocampal mossy fiber outgrowth through a proteoglycan substrate. J Cell Biol 148(6):1295-1304.
94. Siconolfi LB, Seeds NW (2001) Mice lacking tPA, uPA, or plasminogen genes showed delayed functional recovery after sciatic nerve crush. J Neurosci 21(12):4348-4355.
95. Hoover-Plow J, Wang N and PloplisV (1999) Growth and behavioral development in plasminogen gene-targeted mice. Growth Dev Aging 63(1-2):13-32.