Functional interaction between mutations in the granulocyte colony-stimulating factor receptor in severe congenital neutropenia

Ward, Alister, Gits, Judith, Majeed, Fidel, Aprikyan, Andrew, Lewis, Rowena, O`Sullivan, Lynda, Freedman, Melvin, Shigdar, Sarah, Touw, Ivo P., Dale, David and Dror, Yigal 2008, Functional interaction between mutations in the granulocyte colony-stimulating factor receptor in severe congenital neutropenia, British journal of haematology, vol. 142, no. 4, pp. 653-656.

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Title Functional interaction between mutations in the granulocyte colony-stimulating factor receptor in severe congenital neutropenia
Author(s) Ward, Alister
Gits, Judith
Majeed, Fidel
Aprikyan, Andrew
Lewis, Rowena
O`Sullivan, Lynda
Freedman, Melvin
Shigdar, Sarah
Touw, Ivo P.
Dale, David
Dror, Yigal
Journal name British journal of haematology
Volume number 142
Issue number 4
Start page 653
End page 656
Total pages 4
Publisher Wiley-Blackwell
Place of publication Oxford, England
Publication date 2008-08
ISSN 0007-1048
1365-2141
Keyword(s) neutropenia
granulocyte colony-stimulating factor receptor
STAT5
neutrophil elastase
Summary Most severe congenital neutropenia (SCN) cases possess constitutive neutrophil elastase mutations; a smaller cohort has acquired mutations truncating the granulocyte colony-stimulating factor receptor (G-CSF-R). We have described a case with constitutive extracellular G-CSF-R mutation hyporesponsive to ligand. Here we report two independent acquired G-CSF-R truncation mutations and a novel constitutive neutrophil elastase mutation in this patient. Co-expression of a truncated receptor chain restored STAT5 signalling responses of the extracellular G-CSF-R mutant, while constitutively-active STAT5 enhanced its proliferative capacity. These data add to our knowledge of SCN and further highlight the importance of STAT5 in mediating proliferative responses to G-CSF.
Notes Published Online: 30 May 2008
Language eng
Field of Research 060199 Biochemistry and Cell Biology not elsewhere classified
HERDC Research category C1 Refereed article in a scholarly journal
HERDC collection year 2008
Copyright notice ©2008, The Authors
Persistent URL http://hdl.handle.net/10536/DRO/DU:30017280

Document type: Journal Article
Collection: School of Medicine
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