메뉴 건너뛰기




Volumn 113, Issue 2, 2009, Pages 338-346

Functional assessment of perforin C2 domain mutations illustrates the critical role for calcium-dependent lipid binding in perforin cytotoxic function

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CALCIUM; LIPID; LIPOSOME; PERFORIN; MEMBRANE LIPID;

EID: 58849106393     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2008-08-172924     Document Type: Article
Times cited : (28)

References (35)
  • 2
    • 0033520970 scopus 로고    scopus 로고
    • Perforin gene defects in familial hemophagocytic lymphohistiocytosis
    • Stepp SE, Dufourcq-Lagelouse R, Le Deist F, et al. Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science. 1999;286: 1957-1959.
    • (1999) Science , vol.286 , pp. 1957-1959
    • Stepp, S.E.1    Dufourcq-Lagelouse, R.2    Le Deist, F.3
  • 3
    • 3242752040 scopus 로고    scopus 로고
    • An animal model of hemophagocytic lymphohistiocytosis (HLH): CD8+ T cells and interferon gamma are essential for the disorder
    • Jordan MB, Hildeman D, Kappler J, Marrack P. An animal model of hemophagocytic lymphohistiocytosis (HLH): CD8+ T cells and interferon gamma are essential for the disorder. Blood. 2004;104:735-743.
    • (2004) Blood , vol.104 , pp. 735-743
    • Jordan, M.B.1    Hildeman, D.2    Kappler, J.3    Marrack, P.4
  • 4
    • 0021270576 scopus 로고
    • Cytolytic T cell granules: Isolation, structural, biochemical, and functional characterization
    • Podack ER, Konigsberg PJ. Cytolytic T cell granules: isolation, structural, biochemical, and functional characterization. J Exp Med. 1984;160: 695-710.
    • (1984) J Exp Med , vol.160 , pp. 695-710
    • Podack, E.R.1    Konigsberg, P.J.2
  • 5
    • 0021183979 scopus 로고
    • Cytolytic activity of purified cytoplasmic granules from cytotoxic rat large granular lymphocyte tumors
    • Henkart PA, Millard PJ, Reynolds CW, Henkart MP. Cytolytic activity of purified cytoplasmic granules from cytotoxic rat large granular lymphocyte tumors. J Exp Med. 1984;160:75-93.
    • (1984) J Exp Med , vol.160 , pp. 75-93
    • Henkart, P.A.1    Millard, P.J.2    Reynolds, C.W.3    Henkart, M.P.4
  • 6
    • 0031464539 scopus 로고    scopus 로고
    • Perforin is activated by a proteolytic cleavage during biosynthesis which reveals a phospholipid-binding C2 domain
    • Uellner R, Zvelebil MJ, Hopkins J, et al. Perforin is activated by a proteolytic cleavage during biosynthesis which reveals a phospholipid-binding C2 domain. EMBO J. 1997;16:7287-7296.
    • (1997) EMBO J , vol.16 , pp. 7287-7296
    • Uellner, R.1    Zvelebil, M.J.2    Hopkins, J.3
  • 7
    • 0032568662 scopus 로고    scopus 로고
    • C2-domains, structure and function of a universal Ca2+-binding domain
    • Rizo J, Sudhof TC. C2-domains, structure and function of a universal Ca2+-binding domain. J Biol Chem. 1998;273:15879-15882.
    • (1998) J Biol Chem , vol.273 , pp. 15879-15882
    • Rizo, J.1    Sudhof, T.C.2
  • 8
    • 0030467967 scopus 로고    scopus 로고
    • The C2 domain calcium-binding motif: Structural and functional diversity
    • Nalefski EA, Falke JJ. The C2 domain calcium-binding motif: structural and functional diversity. Protein Sci. 1996;5:2375-2390.
    • (1996) Protein Sci , vol.5 , pp. 2375-2390
    • Nalefski, E.A.1    Falke, J.J.2
  • 9
    • 0030034251 scopus 로고    scopus 로고
    • Extending the C2 domain family: C2s in PKCs delta, epsilon, eta, theta, phospholipases, GAPs, and perforin
    • Ponting CP, Parker PJ. Extending the C2 domain family: C2s in PKCs delta, epsilon, eta, theta, phospholipases, GAPs, and perforin. Protein Sci. 1996;5:162-166.
    • (1996) Protein Sci , vol.5 , pp. 162-166
    • Ponting, C.P.1    Parker, P.J.2
  • 10
    • 14844321553 scopus 로고    scopus 로고
    • Voskoboinik I, Thia MC, Fletcher J, et al. Calcium-dependent plasma membrane binding and cell lysis by perforin are mediated through its C2 domain: a critical role for aspartate residues 429, 435, 483, and 485 but not 491. J Biol Chem. 2005;280:8426-8434.
    • Voskoboinik I, Thia MC, Fletcher J, et al. Calcium-dependent plasma membrane binding and cell lysis by perforin are mediated through its C2 domain: a critical role for aspartate residues 429, 435, 483, and 485 but not 491. J Biol Chem. 2005;280:8426-8434.
  • 11
    • 20944449435 scopus 로고    scopus 로고
    • Genetic subtypes of familial hemophagocytic lymphohistiocytosis: Correlations with clinical features and cytotoxic T lymphocyte/natural killer cell functions
    • Ishii E, Ueda I, Shirakawa R, et al. Genetic subtypes of familial hemophagocytic lymphohistiocytosis: correlations with clinical features and cytotoxic T lymphocyte/natural killer cell functions. Blood. 2005;105:3442-3448.
    • (2005) Blood , vol.105 , pp. 3442-3448
    • Ishii, E.1    Ueda, I.2    Shirakawa, R.3
  • 12
    • 20144389453 scopus 로고    scopus 로고
    • Severe and progressive encephalitis as a presenting manifestation of a novel missense perforin mutation and impaired cytolytic activity
    • Feldmann J, Menasche G, Callebaut I, et al. Severe and progressive encephalitis as a presenting manifestation of a novel missense perforin mutation and impaired cytolytic activity. Blood. 2005; 105:2658-2663.
    • (2005) Blood , vol.105 , pp. 2658-2663
    • Feldmann, J.1    Menasche, G.2    Callebaut, I.3
  • 13
    • 1242292327 scopus 로고    scopus 로고
    • Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis
    • Molleran Lee S, Villanueva J, Sumegi J, et al. Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis. J Med Genet. 2004;41:137-144.
    • (2004) J Med Genet , vol.41 , pp. 137-144
    • Molleran Lee, S.1    Villanueva, J.2    Sumegi, J.3
  • 14
    • 21144435788 scopus 로고    scopus 로고
    • A proportion of patients with lymphoma may harbor mutations of the perforin gene
    • Clementi R, Locatelli F, Dupre L, et al. A proportion of patients with lymphoma may harbor mutations of the perforin gene. Blood. 2005;105:4424-4428.
    • (2005) Blood , vol.105 , pp. 4424-4428
    • Clementi, R.1    Locatelli, F.2    Dupre, L.3
  • 15
    • 0842264040 scopus 로고    scopus 로고
    • Chronic active Epstein-Barr virus infection associated with mutations in perforin that impair its maturation
    • Katano H, Ali MA, Patera AC, et al. Chronic active Epstein-Barr virus infection associated with mutations in perforin that impair its maturation. Blood. 2004;103:1244-1252.
    • (2004) Blood , vol.103 , pp. 1244-1252
    • Katano, H.1    Ali, M.A.2    Patera, A.C.3
  • 16
    • 34249812697 scopus 로고    scopus 로고
    • Late-onset cases of familial hemophagocytic lymphohistiocytosis with missense perforin gene mutations
    • Ueda I, Kurokawa Y, Koike K, et al. Late-onset cases of familial hemophagocytic lymphohistiocytosis with missense perforin gene mutations. Am J Hematol. 2007;82:427-432.
    • (2007) Am J Hematol , vol.82 , pp. 427-432
    • Ueda, I.1    Kurokawa, Y.2    Koike, K.3
  • 17
    • 0036277746 scopus 로고    scopus 로고
    • Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis
    • Feldmann J, Le Deist F, Ouachee-Chardin M, et al. Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis. Br J Haematol. 2002; 117:965-972.
    • (2002) Br J Haematol , vol.117 , pp. 965-972
    • Feldmann, J.1    Le Deist, F.2    Ouachee-Chardin, M.3
  • 19
    • 31044453814 scopus 로고    scopus 로고
    • Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lympho-histiocytosis
    • Risma KA, Frayer RW, Filipovich AH, Sumegi J. Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lympho-histiocytosis. J Clin Invest. 2006;116:182-192.
    • (2006) J Clin Invest , vol.116 , pp. 182-192
    • Risma, K.A.1    Frayer, R.W.2    Filipovich, A.H.3    Sumegi, J.4
  • 20
    • 34548038182 scopus 로고    scopus 로고
    • Perforin activity and immune homeostasis: The common A91V polymorphism in perforin results in both presynaptic and postsynaptic defects in function
    • Voskoboinik I, Sutton VR, Ciccone A, et al. Perforin activity and immune homeostasis: the common A91V polymorphism in perforin results in both presynaptic and postsynaptic defects in function. Blood. 2007;110:1184-1190.
    • (2007) Blood , vol.110 , pp. 1184-1190
    • Voskoboinik, I.1    Sutton, V.R.2    Ciccone, A.3
  • 21
    • 4644371832 scopus 로고    scopus 로고
    • Zur Stadt U, Beutel K, Weber B, Kabisch H, Schneppenheim R, Janka G.A91V is a polymorphism in the perforin gene not causative of an FHLH phenotype. Blood. 2004;104:1909; author reply 1910.
    • Zur Stadt U, Beutel K, Weber B, Kabisch H, Schneppenheim R, Janka G.A91V is a polymorphism in the perforin gene not causative of an FHLH phenotype. Blood. 2004;104:1909; author reply 1910.
  • 23
    • 0028914352 scopus 로고
    • Serial killing by cytotoxic T lymphocytes: T cell receptor triggers degranulation, re-filling of the lytic granules and secretion of lytic proteins via a non-granule pathway
    • Isaaz S, Baetz K, Olsen K, Podack E, Griffiths GM. Serial killing by cytotoxic T lymphocytes: T cell receptor triggers degranulation, re-filling of the lytic granules and secretion of lytic proteins via a non-granule pathway. Eur J Immunol. 1995; 25:1071-1079.
    • (1995) Eur J Immunol , vol.25 , pp. 1071-1079
    • Isaaz, S.1    Baetz, K.2    Olsen, K.3    Podack, E.4    Griffiths, G.M.5
  • 24
    • 33845619137 scopus 로고    scopus 로고
    • HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis
    • Henter JI, Horne A, Arico M, et al. HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2007;48:124-131.
    • (2007) Pediatr Blood Cancer , vol.48 , pp. 124-131
    • Henter, J.I.1    Horne, A.2    Arico, M.3
  • 25
    • 38349146702 scopus 로고    scopus 로고
    • Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations
    • Trizzino A, zur Stadt U, Ueda I, et al. Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations. J Med Genet. 2008;45:15-21.
    • (2008) J Med Genet , vol.45 , pp. 15-21
    • Trizzino, A.1    zur Stadt, U.2    Ueda, I.3
  • 26
    • 20344362940 scopus 로고    scopus 로고
    • A single amino acid change A91V in perforin: A novel, frequent predisposing factor to childhood acute lymphoblastic leukemia?
    • Santoro A, Cannella S, Trizzino A, Lo Nigro L, Corsello G, Arico M. A single amino acid change A91V in perforin: a novel, frequent predisposing factor to childhood acute lymphoblastic leukemia? Haematologica. 2005;90:697-698.
    • (2005) Haematologica , vol.90 , pp. 697-698
    • Santoro, A.1    Cannella, S.2    Trizzino, A.3    Lo Nigro, L.4    Corsello, G.5    Arico, M.6
  • 27
    • 34447303539 scopus 로고    scopus 로고
    • Familial haemophagocytic lymphohistiocytosis in patients who are heterozygous for the A91V perforin variation is often associated with other genetic defects
    • Zhang K, Johnson JA, Biroschak J, et al. Familial haemophagocytic lymphohistiocytosis in patients who are heterozygous for the A91V perforin variation is often associated with other genetic defects. Int J Immunogenet. 2007;34:231-233.
    • (2007) Int J Immunogenet , vol.34 , pp. 231-233
    • Zhang, K.1    Johnson, J.A.2    Biroschak, J.3
  • 28
    • 33746138137 scopus 로고    scopus 로고
    • Patients of African ancestry with hemophagocytic lymphohistiocytosis share a common haplotype of PRF1 with a 50delT mutation
    • Lee SM, Sumegi J, Villanueva J, et al. Patients of African ancestry with hemophagocytic lymphohistiocytosis share a common haplotype of PRF1 with a 50delT mutation. J Pediatr. 2006;149:134-137.
    • (2006) J Pediatr , vol.149 , pp. 134-137
    • Lee, S.M.1    Sumegi, J.2    Villanueva, J.3
  • 30
    • 0026753388 scopus 로고
    • Cytotoxicity with target DNA breakdown by rat basophilic leukemia cells expressing both cytolysin and granzyme A
    • Shiver JW, Su L, Henkart PA. Cytotoxicity with target DNA breakdown by rat basophilic leukemia cells expressing both cytolysin and granzyme A. Cell. 1992;71:315-322.
    • (1992) Cell , vol.71 , pp. 315-322
    • Shiver, J.W.1    Su, L.2    Henkart, P.A.3
  • 31
    • 0025973806 scopus 로고
    • A noncytotoxic mast cell tumor line exhibits potent IgE-dependent cytotoxicity after transfection with the cytolysin/perforin gene
    • Shiver JW, Henkart PA. A noncytotoxic mast cell tumor line exhibits potent IgE-dependent cytotoxicity after transfection with the cytolysin/perforin gene. Cell. 1991;64:1175-1181.
    • (1991) Cell , vol.64 , pp. 1175-1181
    • Shiver, J.W.1    Henkart, P.A.2
  • 32
    • 4644319653 scopus 로고    scopus 로고
    • The functional basis for hemophagocytic lymphohistiocytosis in a patient with coinherited missense mutations in the perforin (PFN1) gene
    • Voskoboinik I, Thia MC, De Bono A, et al. The functional basis for hemophagocytic lymphohistiocytosis in a patient with coinherited missense mutations in the perforin (PFN1) gene. J Exp Med. 2004;200:811-816.
    • (2004) J Exp Med , vol.200 , pp. 811-816
    • Voskoboinik, I.1    Thia, M.C.2    De Bono, A.3
  • 33
    • 19444366875 scopus 로고    scopus 로고
    • Detection of functional cell surface perforin by flow cytometry
    • Metkar SS, Wang B, Froelich CJ. Detection of functional cell surface perforin by flow cytometry. J Immunol Methods. 2005;299:117-127.
    • (2005) J Immunol Methods , vol.299 , pp. 117-127
    • Metkar, S.S.1    Wang, B.2    Froelich, C.J.3
  • 35
    • 48749111836 scopus 로고    scopus 로고
    • The MACPF/CDC family of pore-forming toxins
    • Rosado CJ, Kondos S, Bull TE, et al. The MACPF/CDC family of pore-forming toxins. Cell Microbiol. 2008;10:1765-1774.
    • (2008) Cell Microbiol , vol.10 , pp. 1765-1774
    • Rosado, C.J.1    Kondos, S.2    Bull, T.E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.