The phenotype of human STK4 deficiency

Blood

Volumn 119, Issue 15, 2012, Pages 3450-3457

  Abdollahpour, Hengameh ^a   Appaswamy, Giridharan ^a   Kotlarz, Daniel ^a,b   Diestelhorst, Jana ^a,b   Beier, Rita ^a   Schäffer, Alejandro A ^c   Gertz, E Michael ^c   Schambach, Axel ^a   Kreipe, Hans H ^a   Pfeifer, Dietmar ^d   Engelhardt, Karin R ^e   Rezaei, Nima ^f   Grimbacher, Bodo ^e   Lohrmann, Sabine ^a   Sherkat, Roya ^g   Klein, Christoph ^a,b  

^a HANNOVER MEDICAL SCHOOL   (Germany)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

^d UNIVERSITY OF FREIBURG   (Germany)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^g ISFAHAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN SERINE THREONINE KINASE; PROTEIN SERINE THREONINE KINASE 4; UNCLASSIFIED DRUG;

APOPTOSIS; ARTICLE; BACTERIAL INFECTION; CELL GROWTH; CLINICAL ARTICLE; ENZYME DEFICIENCY; GENE MUTATION; HEART ATRIUM SEPTUM DEFECT; HOMOZYGOSITY; HUMAN; HUMAN CELL; LYMPHOCYTOPENIA; MEDICAL HISTORY; MITOCHONDRIAL MEMBRANE POTENTIAL; MUCOCUTANEOUS CANDIDIASIS; NEUTROPENIA; PHENOTYPE; PRIORITY JOURNAL; SERINE THREONINE KINASE 4 DEFICIENCY; SKIN ABSCESS; VERRUCA VULGARIS; VIRUS INFECTION;

EID: 84859837132     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2011-09-378158     Document Type: Article

References (39)

1. Fischer A. Human primary immunodeficiency diseases. Immunity. 2007;27(6):835-845. (Pubitemid 350258624)
2. Notarangelo LD. Primary immunodeficiencies (PIDs) presenting with cytopenias. HematologyAm Soc Hematol Educ Program. 2009;2009:139-143.
3. International Union of Immunological Societies Expert Committee on Primary Immunodeficiencies. Primary immunodeficiencies: 2009 update. J Allergy Clin Immunol. 2009;124(6):1161-1178.
4. Creasy CL, Chernoff J. Cloning and characterization of a human protein kinase with homology to Ste20. J Biol Chem. 1995;270(37):21695-21700.
5. Taylor LK, Wang H-WR, Erikson RL. Newly identified stress-responsive protein kinases, Krs-1 and Krs-2. Proc Natl Acad Sci U S A. 1996;93(19):10099- 10104. (Pubitemid 26314581)
6. Zhao B, Li L, Lei Q, Guan KL. The Hippo-YAP pathway in organ size control and tumorigenesis: an updated version. Genes Dev. 2010;24(9):862-874.
7. Oh S, Lee D, Kim T, et al. Crucial role for Mst1 and Mst2 kinases in early embryonic development of the mouse. Mol Cell Biol. 2009;29(23):6309-6320.
8. Zhou D, Conrad C, Xia F, et al. Mst1 and Mst2 maintain hepatocyte quiescence and suppress hepatocellular carcinoma development through inactivation of the Yap1 oncogene. Cancer Cell. 2009;16(5):425-438.
9. Song H, Mak KK, Topol L, et al. Mammalian Mst1 and Mst2 kinases play essential roles in organ size control and tumor suppression. Proc Natl Acad Sci U S A. 2010;107(4):1431-1436.
10. Cinar B, Fang PK, Lutchman M, et al. The proapoptotic kinase Mst1 and its caspase cleavage products are direct inhibitors of Akt1. EMBO J. 2007;26(21):4523-4534. (Pubitemid 350036629)
11. Lee KK, Ohyama T, Yajima N, Tsubuki S, Yonehara S. MST, a physiological caspase substrate, highly sensitizes apoptosis both upstream and downstream of caspase activation. J Biol Chem. 2001;276(22):19276-19285.
12. Ura S, Masuyama N, Graves JD, Gotoh Y. Caspase cleavage of MST1 promotes nuclear translocation and chromatin condensation. Proc Natl Acad Sci U S A. 2001;98(18):10148-10153. (Pubitemid 32802989)
13. Cheung WL, Ajiro K, Samejima K, et al. Apoptotic phosphorylation of histone H2B is mediated by mammalian sterile twenty kinase. Cell. 2003;113(4):507-517. (Pubitemid 36603322)
14. Wen W, Zhu F, Zhang J, et al. MST1 promotes apoptosis through phosphorylation of histone H2AX. J Biol Chem. 2010;285(50):39108-39116.
15. Glantschnig H, Rodan GA, Reszka AA. Mapping of MST1 kinase sites of phosphorylation: activation and autophosphorylation. J Biol Chem. 2002;277(45):42987-42996. (Pubitemid 35285678)
16. Densham RM, O'Neill E, Munro J, et al. MST kinases monitor actin cytoskeletal integrity and signal via c-Jun N-terminal kinase stress-activated kinase to regulate p21Waf1/Cip1 stability. Mol Cell Biol. 2009;29(24):6380-6390.
17. Bi W, Xiao L, Jia Y, et al. c-Jun N-terminal kinase enhances MST1-mediated pro-apoptotic signaling through phosphorylation at serine 82. J Biol Chem. 2010;285(9):6259-6264.
18. Oh HJ, Lee KK, Song SJ, et al. Role of the tumor suppressor RASSF1A in Mst1-mediated apoptosis. Cancer Res. 2006;66(5):2562-2569.
19. Lehtinen MK, Yuan Z, Boag PR, et al. A conserved MST-FOXO signaling pathway mediates oxidative-stress responses and extends life span. Cell. 2006;125(5):987-1001. (Pubitemid 43795191)
20. Zhou D, Medoff BD, Chen L, et al. The Nore1B/Mst1 complex restrains antigen receptor-induced proliferation of naive T cells. Proc Natl Acad Sci U S A. 2008;105(51):20321-20326.
21. Choi J, Oh S, Lee D, et al. Mst1-FoxO signaling protects naive T lymphocytes from cellular oxidative stress in mice. PLoS One. 2009;4(11):e8011.
22. Dong Y, Du X, Ye J, et al. A cell-intrinsic role for Mst1 in regulating thymocyte egress. J Immunol. 2009;183(6):3865-3872.
23. Del Re DP, Matsuda T, Zhai P, et al. Proapoptotic Rassf1A/Mst1 signaling in cardiac fibroblasts is protective against pressure overload in mice. J Clin Invest. 2010;120(10):3555-3567.
24. Katagiri K, Imamura M, Kinashi T. Spatiotemporal regulation of the kinase Mst1 by binding protein RAPL is critical for lymphocyte polarity and adhesion. Nat Immunol. 2006;7(9):919-928. (Pubitemid 44263905)
25. Glocker EO, Hennings A, Nabavi M, et al. A homozygous CARD9 mutation in a family with susceptibility to fungal infections. N Engl J Med. 2009;361(18):1727-1735.
26. Boztug K, Appaswamy G, Ashikov A, et al. A syndrome with congenital neutropenia and mutations in G6PC3. N Engl J Med. 2009;360(1):32-43.
27. Bohn G, Allroth A, Brandes G, et al. A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14. Nat Med. 2007;13(1):38-45. (Pubitemid 46067384)
28. Fishelson M, Geiger D. Exact genetic linkage computations for general pedigrees. Bioinformatics. 2002;18(suppl 1):S189-S198. (Pubitemid 41185653)
29. Hamada T, McLean WH, Ramsay M, et al. Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hum Mol Genet. 2002;11(7):833-840. (Pubitemid 34428651)
30. Klein C, Grudzien M, Appaswamy G, et al. HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet. 2007;39(1):86-92. (Pubitemid 46026506)
31. Gorlin RJ, Gelb B, Diaz GA, et al. WHIM syndrome, an autosomal dominant disorder: clinical, hematological, and molecular studies. Am J Med Genet. 2000;91(5):368-376. (Pubitemid 30193934)
32. Dale DC, Person RE, Bolyard AA, et al. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood. 2000;96(7):2317-2322.
33. De Souza PM, Kankaanranta H, Michael A, Barnes PJ, Giembycz MA, Lindsay MA. Caspase-catalyzed cleavage and activation of Mst1 correlates with eosinophil but not neutrophil apoptosis. Blood. 2002;99(9):3432-3438. (Pubitemid 34525327)
34. Morbach H, Eichhorn EM, Liese JG, Girschick HJ. Reference values for B cell subpopulations from infancy to adulthood. Clin Exp Immunol. 2010;162(2):271-279.
35. Pendergrass W, Wolf N, Poot M. Efficacy of Mito-Tracker Green and CMXrosamine to measure changes in mitochondrial membrane potentials in living cells and tissues. Cytometry A. 2004;61(2):162-169. (Pubitemid 39362290)
36. Klein C. Genetic defects in severe congenital neutropenia: emerging insights into life and death of human neutrophil granulocytes. Annu Rev Immunol. 2011;29:399-413.
37. Nehme NT, Pachlopnik Schmid J, Debeurme F, et al. MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T cells survival. Blood. 2012;119(15):3458-3468.
38. Yamamoto S, Yang G, Zablocki D, et al. Activation of Mst1 causes dilated cardiomyopathy by stimulating apoptosis without compensatory ventricular myocyte hypertrophy. J Clin Invest. 2003;111(10):1463-1474. (Pubitemid 38063279)
39. Heallen T, Zhang M, Wang J, et al. Hippo pathway inhibits Wnt signaling to restrain cardiomyocyte proliferation and heart size. Science. 2011;332(6028):458-461.