Deletion of serpina1a, a murine α1-antitrypsin ortholog, results in embryonic lethality

Experimental Lung Research

Volumn 37, Issue 5, 2011, Pages 291-300

  Wang, Dongmei ^a   Wang, Weimin ^a   Dawkins, Paul ^b   Paterson, Trevor ^c   Kalsheker, Noor ^d   Sallenave, Jean Michel ^e   McGarry Houghton, A ^f  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^c UNIVERSITY OF EDINBURGH   (United Kingdom)

^d UNIVERSITY OF NOTTINGHAM   (United Kingdom)

^e INSTITUT PASTEUR   (France)

^f UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

Author keywords

A1AT; COPD; Serpins

Indexed keywords

ALPHA 1 ANTITRYPSIN; LEUKOCYTE ELASTASE; PROTEINASE INHIBITOR; SERPINA1A PROTEIN; SERPINA1B PROTEIN; UNCLASSIFIED DRUG;

ALPHA 1 ANTITRYPSIN DEFICIENCY; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CHRONIC OBSTRUCTIVE LUNG DISEASE; CONTROLLED STUDY; EMBRYO DEATH; ENZYME INHIBITION; FEMALE; GENE CLUSTER; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION; GENE FUNCTION; LUNG EMPHYSEMA; MOUSE; MOUSE MUTANT; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL;

ALPHA 1-ANTITRYPSIN; ALPHA 1-ANTITRYPSIN DEFICIENCY; ANIMAL STRUCTURES; ANIMALS; EMBRYO LOSS; EMBRYONIC DEVELOPMENT; FEMALE; GENE DUPLICATION; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MICE; PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; PULMONARY EMPHYSEMA; SEQUENCE DELETION; SERINE PROTEINASE INHIBITORS; SERPINS;

EID: 79956215559     PISSN: 01902148     EISSN: 15210499     Source Type: Journal    
DOI: 10.3109/01902148.2011.554599     Document Type: Article

References (45)

1. Mannino DM, Homa DM, Akinbami LJ, Ford ES, Redd SC: Chronic obstructive pulmonary disease surveillance-United States, 1971-2000. MMWR Surveill Summ. 2006;51:1-16.
2. Laurell CB, Eriksson S: The electrophoresis α1-globulin pattern of serum in α1-antitrypsin deficiency. Scand J Clin Lab Invest. 1963;15:132-140.
3. Eriksson S: Pulmonary emphysema and alpha1-antitrypsin deficiency. Act Med Scand. 1964;175:197-205.
4. Silverman E, Pierce J, Province M, Rao D, Campbell E: Variability of pulmonary function in alpha-1-antitrypsin deficiency: clinical correlates. Ann Intern Med. 1989;111:982-991. (Pubitemid 20034922)
5. Jones DK, Godden D, Cavanaugh P: Alpha-1-antitrypsin deficiency presenting as bronchiectasis. Br J Dis Chest. 1985;79:301-304. (Pubitemid 15063932)
6. Larsson C: Natural history and life expectancy in severe alpha1- antitrypsin deficiency, PiZ. Act Med Scand. 1978;204:345-351. (Pubitemid 9051719)
7. Eriksson S, Carlson J, Velez R: Risk of cirrhosis and primary liver cancer in alpha1-antitrypsin deficiency. N Engl J Med. 1986;314:736-739. (Pubitemid 16124387)
8. Yang P, Bamlet WR, Sun Z, Ebbert JO: Alpha-1 antitrypsin and neutrophil elastase imbalance and lung cancer risk. Chest. 2005;128:445-452. (Pubitemid 40994509)
9. Silverman E,Malevich J, Pierce J, Sherman L, Endicott S, Broze G, Campbell E: Alpha-1-antitrypsin deficiency: high prevalence in the St. Louis area determined by direct population screening. Am Rev Respir Dis. 1989;140:961-966. (Pubitemid 19259496)
10. Laurell CB, Jeppsson JO: In: Putnam FW (ed.). The Plasma Proteins. Vol. 1. Academic Press Inc., 1975:229-264.
11. Beatty K, Beth J, Travis J: Kinetics of association of serine proteinases with native and oxidized alpha-1-proteinase inhibitor and alpha-1- antichymotrypsin. J Biol Chem. 1980;255:3931-3934.
12. Damiano VV, Tsang A, Kucich U, Abrams WR, Rosenbloom J, Kimble P, Fallahnejab M, Weinbaum G: Immunolocalization of elastase in human emphysematous lungs. J Clin Invest. 1986;78:482-493. (Pubitemid 16074086)
13. Senior RM, Tegner H, Kuhn C, Olsson K, Starcher BC, Pierce JA: The induction of pulmonary emphysema induced with human leukocyte elastase. AmRev Respir Dis. 1977;116:469-477.
14. Gross P, Pfitzer EA, Talker E, Babyak MA, Kasha M: Experimental emphysema: its production with papain in normal and silicotic rats. Arch Environ Health. 1965;11:50-58.
15. Shapiro SD, Goldstein NM, Houghton AM, Kobayashi, DK, Kelley DG, Belaaouaj A: Neutrophil elastase contributes to cigarette smoke-induced emphysema in mice. Am J Pathol. 2003;163:2329-2335. (Pubitemid 37466476)
16. Silverman GA, Bird PI, Carrell RW, Church RC, Coughlin PB, Gettins PGW, Irving JA, Lomas DA, Luke CJ, Moyer RW, Pemberton PA, Remol-ODonnell E, Salvesen GS, Travis J, Whisstock JC: The serpins are an expanding superfamily of structurally similar but functionally diverse proteins. J Biol Chem. 2001;276:33293-33296.
17. Bao J, Reed-Fouquet L, Safer R, Kidd V, Woo S: Molecular structure and sequence homology of a gene related to alpha- 1-antitrypsin in the human genome. Genomics. 1988;2:165-173.
18. Perlino E, Bortese R, Ciliberto G: The human α1åntitrypsin gene is transcribed from two different promoters in macrophages and hepatocytes. EMBO J. 1987;6:2767-2771.
19. Kalsheker N, Morley S, Morgan K: Gene regulation of the serine proteinase inhibitors alpha1-antitirypsin and alpha1- antichymotrypsin. Biochem Soc Trans. 2002;30:93-98.
20. Paterson T, Mullins L: Physical map of four tenderly repeated genes encoding murine α1-protease inhibitor. Mouse Genome. 1997;95:898-900.
21. Borriello F, Krauter KS: Multiple murine α-1-proteinase inhibitor genes show unusual evolutionary divergence. Proc Natl Acad Sci U S A. 1991;88:9417-9421. (Pubitemid 21915642)
22. Paterson T, Moore S: The expression and characterization of five recombinant murine α1-protease inhibitor proteins. Biochem Biophys Res Commun. 1996;219:64-69. (Pubitemid 26071604)
23. Hill RE, Shaw PH, Boyd PA, Baumann H, Hastie ND: Plasma protease inhibitors in mouse and man: divergence within the reactive centre regions. Nature. 1984;311:175-177. (Pubitemid 14072212)
24. Barbour KW,Wei F, Brannan C, Flute TR, Baumann H, Berger FG: The murine α1-proteinase inhibitor gene family: polymorphism, chromosomal location, and structure. Genomics. 2002;80:515-522. (Pubitemid 35333793)
25. Shizuya H, Birren B, Kim UJ,Mancino V, Slepak T, Tachiiri Y, SimonM: Cloning and stable maintenance of 300-kilobase-pair fragments of human DNA in Escherichia coli using an F-factorbased vector. Proc Natl Acad Sci U S A. 1992;89:8794-8797.
26. Shipley JM,Wesselschmidt RL, KobayashiDK, Ley TJ, Shapiro SD: Metalloelastase is required for macrophage-mediated proteolysis and matrix invasion in mice. Proc Natl Acad Sci U S A. 1996;93:3942-3946. (Pubitemid 26144227)
27. Belaaouaj A, McCarthy R, Baumann M, Gao Z, Ley TJ, Abraham SN, Shapiro SD: Mice lacking neutrophil elastase reveal impaired host defense against gram-negative pathogens. Nat Med. 1998;4:615-619.
28. MacIvor DM, Shapiro SD, Pham CT Belaaouaj A, Abraham SN, Ley TJ: Normal neutrophil function in cathepsin G-deficient mice. Blood. 1999;94:4282-4293.
29. Brody SL, Yan XH,Wuerffel MK, Song SK, Shapiro SD: Ciliogenesis and left-right axis defects in forehead factor HFH-4-null mice. Am J Respir Cell Mol Biol 2000;20:4879-4887.
30. Hornstra IK, Barge S, Starchier B, Bailey AJ, Meacham RP, Shapiro SD: Lysyl oxidase is required for vascular and diaphragmatic development in mice. J Biol Chem. 2003;278:14387-14393. (Pubitemid 36799990)
31. Xu J, Tian J, Shapiro SD: Normal lung development in RAIG1- deficient mice despite unique lung epithelium-specific expression. Am J Respir Cell Mol Biol. 2005;32:381-387. (Pubitemid 40629322)
32. Shapiro SD: Mighty mice: transgenic technology "knocks out questions of matrix metalloproteinase function. Matrix Biol. 1997;15:527-533. (Pubitemid 27190027)
33. Satoh K, Nukiwa T, BrantlyM,Garver RI, Hofker M, Courtney M, Crystal RG: Emphysema associated with complete absence of alpha 1 antitrypsin in serum and the homozygous inheritance of a stop codon in an alpha 1 antitrypsin-coding exon. Am J Hum Genet. 1988;42:77-83. (Pubitemid 18081283)
34. Winkler IG, Hendy J, Coughlin P, Horvath A, Levesque JP: Serine protease inhibitors serpina1 and serpina3 are down regulated in bone marrow during hematopoietic progenitor mobilization. J Exp Med. 2005;201:1077-1088. (Pubitemid 40524676)
35. Salamonsen LA: Role of proteases in implantation. Reproduction. 1999;4:11-22. (Pubitemid 29078540)
36. Alexander CM, Hansell EJ, Behrendtsen O, Flannery ML, Keshena NS, Hawkes SP, Werb Z: Expression and function of matrix metalloproteinases and their inhibitors at the maternalembryonic boundary during mouse embryo implantation. Development. 1996;122:1723-1736. (Pubitemid 26192738)
37. Teasel T, Blasi F, Alaric D: Embryo implantation in mouse: fetomaternal coordination in the pattern of expression of up, upper, PAI-1 and alspha2MR/LRP genes. Mech Dev. 1996;56:103-116.
38. Rossi GA, Hunninghake GW, Gadek JE, Soapier SV, Kawanami O, Ferrans VJ, Crystal RG: Hereditary emphysema in the tight-skin mouse: evaluation of pathogenesis. Am Rev Respir Dis. 1984;129:850-855. (Pubitemid 14104772)
39. Starcher B, Williams I: The beige mouse: role of neutrophil elastase in the development of pulmonary emphysema. Exp Lung Res. 1989;15:785-800. (Pubitemid 19236023)
40. Martorana PA, van Even P, Grade C, Lungarella G: A 16-month study of the development of genetic emphysema in tight-skin mice. Am Rev Respir Dis. 1989;139:226-232. (Pubitemid 19030449)
41. Martorana PA, Brand T, Grade C, van Even P, de Santi MM, Calzone P, Marcolongo P, Lungarella G: The pallid mouse. Amodel of genetic α1-antitrypsin deficiency. Lab Invest. 1993;68:233-241. (Pubitemid 23084296)
42. Keil M, Lungarella G, Cavarra, van Even P, Martorana PA: A scanning electron microscopic investigation of genetic emphysema in tight-skin, pallid, and beige mice, three different C57 Bl/6J mutants. Lab Invest. 1996;74:353-362. (Pubitemid 26072078)
43. Carlson JA, Rogers BB, Sifters RN, Feingold MJ, Clift SM, DeMayo FJ, Bullock DW, Woo SLC: Accumulation of PiZ α1- antitrypsin causes liver damage in transgenic mice. J Clin Invest. 1989;83:1183-1190. (Pubitemid 19113030)
44. Kushi A, Akiyama K, NoguchiM, Edamura K, Yoshida T, Sasai H: Disruption of the murine alpha-1 antitrypsin/Pi2 gene. Exp Anim. 2004;53:437-443. (Pubitemid 41349887)
45. Wei FS, Rule M, Wei JF, Berger F, Brannan C, Scott E, Flotte TR: Development of chimeric mice from ES clones with a double knock-out for DOM1 and DOM2: toward a mouse model for null-variant alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med. 2004;A582.