A congenital neutrophil defect syndrome associated with mutations in VPS45

New England Journal of Medicine

Volumn 369, Issue 1, 2013, Pages 54-65

  Vilboux, Thierry ^a   Lev, Atar ^b   Malicdan, May Christine V ^a   Simon, Amos J ^b   Järvinen, Päivi ^g   Racek, Tomas ^g   Puchalka, Jacek ^g   Sood, Raman ^a   Carrington, Blake ^a   Bishop, Kevin ^a   Mullikin, James ^a   Huizing, Marjan ^a   Garty, Ben Zion ^c,d   Eyal, Eran ^b   Wolach, Baruch ^c,e   Gavrieli, Ronit ^c,e   Toren, Amos ^b,c   Soudack, Michalle ^b,c   Atawneh, Osama M ^f   Babushkin, Tatiana ^b,c   Schiby, Ginette ^b,c   Cullinane, Andrew ^a   Avivi, Camila ^b,c   Polak Charcon, Sylvie ^b,c   Barshack, Iris ^b,c   Amariglio, Ninette ^b   Rechavi, Gideon ^b,c   Van Der Werff Ten Bosch, Jutte ^h   Anikster, Yair ^b,c   Klein, Christoph ^g   Gahl, William A ^a   Somech, Raz ^b,c   more..

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b SHEBA MEDICAL CENTER   (Israel)

^c TEL AVIV UNIVERSITY   (Israel)

^d SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^e MEIR MEDICAL CENTER   (Israel)

^f Palestine Red Crescent Society Hospital   (Israel)

^g LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^h UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

BETA1 INTEGRIN; MEMBRANE PROTEIN; PROTEIN SERINE THREONINE KINASE; RABENOSYN 5; SYNTAXIN 16; UNCLASSIFIED DRUG; VACUOLAR PROTEIN SORTING 45 PROTEIN;

ANIMAL TISSUE; APOPTOSIS; ARTICLE; CELL MEMBRANE TRANSPORT; CELL MIGRATION; CELL MOTILITY; CELL SURFACE; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; CONGENITAL NEUTROPHIL DEFECT SYNDROME; CONTROLLED STUDY; ELECTRON MICROSCOPY; EMBRYO; ENDOSOME; FEMALE; FIBROBLAST; FLOW CYTOMETRY; GENE; GENE MAPPING; GENETIC ASSOCIATION; GENETIC TRANSFECTION; HOMOZYGOSITY; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; IMMUNOBLOTTING; IMMUNOFLUORESCENCE TEST; IMMUNOHISTOCHEMISTRY; KIDNEY DISEASE; LEUKOCYTE DISORDER; MALE; MYELOFIBROSIS; NEPHROMEGALY; NEUTROPENIA; NEUTROPHIL DYSFUNCTION; NEWBORN; NONHUMAN; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN TRANSPORT; REAL TIME POLYMERASE CHAIN REACTION; SCHOOL CHILD; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; VPS45 GENE; ZEBRA FISH;

EID: 84879753994     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa1301296     Document Type: Article

References (43)

1. Malech HL, Gallin JI. Immunology: neutrophils in human diseases. N Engl J Med 1987;317:687-94.
2. Klein C. Congenital neutropenia. Hematol Oncol Clin North Am 2013;27(3):xi-xii.
3. 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.
4. Dell'Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS. Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. Mol Cell 1999;3:11-21. (Pubitemid 29292473)
5. 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;13:38-45. (Pubitemid 46067384)
6. Kinchen JM, Ravichandran KS. Phagosome maturation: going through the acid test. Nat Rev Mol Cell Biol 2008;9:781-95.
7. Gissen P, Tee L, Johnson CA, et al. Clinical and molecular genetic features of ARC syndrome. Hum Genet 2006;120:396-409. (Pubitemid 44400474)
8. Horn D, Krebsova A, Kunze J, Reis A. Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity. Am J Med Genet 2000;92:285-92. (Pubitemid 30252677)
9. Rubio JP, Danek A, Stone C, et al. Chorea-acanthocytosis: genetic linkage to chromosome 9q21. Am J Hum Genet 1997;61:899-908. (Pubitemid 27418465)
10. Wider C, Skipper L, Solida A, et al. Autosomal dominant dopa-responsive parkinsonism in a multigenerational Swiss family. Parkinsonism Relat Disord 2008;14:465-70.
11. Peiffer DA, Le JM, Steemers FJ, et al. High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping. Genome Res 2006;16:1136-48. (Pubitemid 44320401)
12. Steemers FJ, Gunderson KL. Whole genome genotyping technologies on the Bead Array platform. Biotechnol J 2007;2:41-9. (Pubitemid 46738887)
13. Bentley DR, Balasubramanian S, Swerdlow HP, et al. Accurate whole human genome sequencing using reversible terminator chemistry. Nature 2008;456:53-9.
14. Cullinane AR, Vilboux T, O'Brien K, et al. Homozygosity mapping and wholeexome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia. J Invest Dermatol 2011;131:2017-25.
15. Westerfield M. The zebrafish book: a guide for the laboratory use of zebrafish Danio (Brachydanio) rerio. Eugene: University of Oregon Press, 2000.
16. Thisse C, Thisse B. High-resolution in situ hybridization to whole-mount zebrafish embryos. Nat Protoc 2008;3:59-69.
17. Sood R, Liu P. Novel insights into the genetic controls of primitive and definitive hematopoiesis from zebrafish models. Adv Hematol 2012;2012:830703.
18. Le Guyader D, Redd MJ, Colucci-Guyon E, et al. Origins and unconventional behavior of neutrophils in developing zebrafish. Blood 2008;111:132-41.
19. Zucker-Franklin D, L'Esperance P, Good RA. Congenital neutropenia: an intrinsic cell defect demonstrated by electron microscopy of soft agar colonies. Blood 1977;49:425-36. (Pubitemid 8038640)
20. Bishop JB, Tani Y, Witt K, et al. Mitochondrial damage revealed by morphometric and semiquantitative analysis of mouse pup cardiomyocytes following in utero and postnatal exposure to zidovudine and lamivudine. Toxicol Sci 2004;81:512-7. (Pubitemid 39377980)
21. Amitai G, Shemesh A, Sitbon E, et al. Network analysis of protein structures identifies functional residues. J Mol Biol 2004;344:1135-46. (Pubitemid 39491254)
22. Jovic M, Naslavsky N, Rapaport D, Horowitz M, Caplan S. EHD1 regulates beta1 integrin endosomal transport: effects on focal adhesions, cell spreading and migration. J Cell Sci 2007;120(Pt 5):802-14. (Pubitemid 46523482)
23. Schäffer AA, Klein C. Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil? Curr Opin Allergy Clin Immunol 2007;7:481-94. (Pubitemid 350076443)
24. Bennett CM, Kanki JP, Rhodes J, et al. Myelopoiesis in the zebrafish, Danio rerio. Blood 2001;98:643-51.
25. Gahl WA, Brantly M, Kaiser-Kupfer MI, et al. Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). N Engl J Med 1998;338:1258-64. (Pubitemid 28216579)
26. Tomita Y, Suzuki T. Genetics of pigmentary disorders. Am J Med Genet C Semin Med Genet 2004;131C:75-81. (Pubitemid 39441636)
27. Bock JB, Matern HT, Peden AA, Scheller RH. A genomic perspective on membrane compartment organization. Nature 2001;409:839-41. (Pubitemid 32165338)
28. Shanks SG, Carpp LN, Struthers MS, McCann RK, Bryant NJ. The Sec1/Munc18 protein Vps45 regulates cellular levels of its SNARE binding partners Tlg2 and Snc2 in Saccharomyces cerevisiae. PLoS One 2012;7(11):e49628.
29. Mellman I. Endocytosis and molecular sorting. Annu Rev Cell Dev Biol 1996;12:575-625. (Pubitemid 26422725)
30. Nielsen E, Christoforidis S, Uttenweiler-Joseph S, et al. Rabenosyn-5, a novel Rab5 effector, is complexed with hVPS45 and recruited to endosomes through a FYVE finger domain. J Cell Biol 2000;151:601-12.
31. Perskvist N, Roberg K, Kulyte A, Stendahl O. Rab5a GTPase regulates fusion between pathogen-containing phagosomes and cytoplasmic organelles in human neutrophils. J Cell Sci 2002;115:1321-30. (Pubitemid 34272496)
32. Cowles CR, Emr SD, Horazdovsky BF. Mutations in the VPS45 gene, a SEC1 homologue, result in vacuolar protein sorting defects and accumulation of membrane vesicles. J Cell Sci 1994;107:3449-59.
33. Rajasekariah P, Eyre HJ, Stanley KK, Walls RS, Sutherland GR. Molecular cloning and characterization of a cDNA encoding the human leucocyte vacuolar protein sorting (h1Vps45). Int J Biochem Cell Biol 1999;31:683-94. (Pubitemid 29248877)
34. Tall GG, Hama H, DeWald DB, Horazdovsky BF. The phosphatidylinositol 3-phosphate binding protein Vac1p interacts with a Rab GTPase and a Sec1p homologue to facilitate vesicle-mediated vacuolar protein sorting. Mol Biol Cell 1999;10:1873-89.
35. Gengyo-Ando K, Kuroyanagi H, Kobayashi T, et al. The SM protein VPS-45 is required for RAB-5-dependent endocytic transport in Caenorhabditis elegans. EMBO Rep 2007;8:152-7. (Pubitemid 46420843)
36. Morrison HA, Dionne H, Rusten TE, et al. Regulation of early endosomal entry by the Drosophila tumor suppressors Rabenosyn and Vps45. Mol Biol Cell 2008;19:4167-76.
37. Rahajeng J, Caplan S, Naslavsky N. Common and distinct roles for the binding partners Rabenosyn-5 and Vps45 in the regulation of endocytic trafficking in mammalian cells. Exp Cell Res 2010;316:859-74.
38. Chen C, Huang X, Atakilit A, Zhu QS, Corey SJ, Sheppard D. The Integrin alpha- 9beta1 contributes to granulopoiesis by enhancing granulocyte colony-stimulating factor receptor signaling. Immunity 2006;25:895-906. (Pubitemid 44894944)
39. Abdollahpour H, Appaswamy G, Kotlarz D, et al. The phenotype of human STK4 deficiency. Blood 2012;119:3450-7.
40. Boztug K, Appaswamy G, Ashikov A, et al. A syndrome with congenital neutropenia and mutations in G6PC3. N Engl J Med 2009;360:32-43.
41. Grenda DS, Murakami M, Ghatak J, et al. Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis. Blood 2007;110:4179-87. (Pubitemid 351377781)
42. Nanua S, Murakami M, Xia J, et al. Activation of the unfolded protein response is associated with impaired granulopoiesis in transgenic mice expressing mutant Elane. Blood 2011;117:3539-47.
43. Wang LD, Wagers AJ. Dynamic niches in the origination and differentiation of haematopoietic stem cells. Nat Rev Mol Cell Biol 2011;12:643-55.