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Jagn1 Deficiency Causes Aberrant Myeloid Cell Homeostasis and Congenital Neutropenia Publisher Pubmed



Boztug K1, 2 ; Jarvinen PM3 ; Salzer E1 ; Racek T3 ; Monch S3 ; Garncarz W1 ; Gertz EM4 ; Schaffer AA4 ; Antonopoulos A5 ; Haslam SM5 ; Schieck L6 ; Puchalka J3 ; Diestelhorst J3, 6 ; Appaswamy G6 Show All Authors
Authors
  1. Boztug K1, 2
  2. Jarvinen PM3
  3. Salzer E1
  4. Racek T3
  5. Monch S3
  6. Garncarz W1
  7. Gertz EM4
  8. Schaffer AA4
  9. Antonopoulos A5
  10. Haslam SM5
  11. Schieck L6
  12. Puchalka J3
  13. Diestelhorst J3, 6
  14. Appaswamy G6
  15. Lescoeur B7
  16. Giambruno R1
  17. Bigenzahn JW1
  18. Elling U8
  19. Pfeifer D9
  20. Conde CD1
  21. Albert MH3
  22. Welte K6
  23. Brandes G10
  24. Sherkat R11
  25. Van Der Werff Ten Bosch J12
  26. Rezaei N13
  27. Etzioni A14
  28. Bellannechantelot C15
  29. Supertifurga G1
  30. Penninger JM8
  31. Bennett KL1
  32. Von Blume J16
  33. Dell A5
  34. Donadieu J17
  35. Klein C3

Source: Nature Genetics Published:2014


Abstract

The analysis of individuals with severe congenital neutropenia (SCN) may shed light on the delicate balance of factors controlling the differentiation, maintenance and decay of neutrophils. We identify 9 distinct homozygous mutations in the JAGN1 gene encoding Jagunal homolog 1 in 14 individuals with SCN. JAGN1-mutant granulocytes are characterized by ultrastructural defects, a paucity of granules, aberrant N-glycosylation of multiple proteins and increased incidence of apoptosis. JAGN1 participates in the secretory pathway and is required for granulocyte colony-stimulating factor receptor-mediated signaling. JAGN1 emerges as a factor that is necessary in the differentiation and survival of neutrophils. © 2014 Nature America, Inc. All rights reserved.
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