PMID- 10643150
OWN - NLM
STAT- MEDLINE
DCOM- 20000216
LR  - 20161124
IS  - 0925-5710 (Print)
IS  - 0925-5710 (Linking)
VI  - 70
IP  - 4
DP  - 1999 Dec
TI  - Association of src-kinase Lyn and non-src-kinase Syk with the granulocyte
      colony-stimulating factor receptor (G-CSFR) is not abrogated in neutrophils from 
      severe congenital neutropenia patients with point mutations in the G-CSFR mRNA.
PG  - 241-7
AB  - Severe congenital neutropenia (SCN) is characterized by a maturation arrest of
      myeloid progenitor cells at the stage of promyelocytes in bone marrow and low
      levels of mature neutrophils in peripheral blood. To date, little is known
      regarding the underlying pathomechanism of SCN. A defective response of
      neutrophil precursors to granulocyte colony-stimulating factor (G-CSF) is a
      suggested mechanism. In the last few years, we and others described point
      mutations in the cytoplasmic domain of the G-CSF receptor (G-CSFR) mRNA in a
      subgroup of SCN patients. In one allele of the G-CSFR gene, a C to T substitution
      resulted in a change from a glutamine codon to a stop codon. The expected G-CSFR 
      proteins were truncated by 83 to 98 amino acids. In this study, we show that the 
      Lyn and Syk kinases are associated with the G-CSFR in neutrophils from SCN
      patients with point mutations in the cytoplasmic domain of the G-CSFR mRNA. These
      findings provide additional proof of the expression of normal G-CSFRs in these
      patients, because the possible Syk binding motif is located between amino acid
      727 and 747 in the G-CSFR.
FAU - Kasper, B
AU  - Kasper B
AD  - Department of Pediatric Hematology and Oncology, Medical School Hannover,
      Germany. bkasper@fz-borstel.de
FAU - Tidow, N
AU  - Tidow N
FAU - Welte, K
AU  - Welte K
LA  - eng
PT  - Journal Article
PL  - Japan
TA  - Int J Hematol
JT  - International journal of hematology
JID - 9111627
RN  - 0 (Enzyme Precursors)
RN  - 0 (Intracellular Signaling Peptides and Proteins)
RN  - 0 (Oncogene Proteins, Viral)
RN  - 0 (RNA, Messenger)
RN  - 0 (Receptors, Granulocyte-Macrophage Colony-Stimulating Factor)
RN  - EC 2.7.10.1 (Protein-Tyrosine Kinases)
RN  - EC 2.7.10.2 (SYK protein, human)
RN  - EC 2.7.10.2 (Syk Kinase)
RN  - EC 2.7.10.2 (lyn protein-tyrosine kinase)
RN  - EC 2.7.10.2 (src-Family Kinases)
SB  - IM
MH  - Enzyme Precursors/chemistry/*metabolism
MH  - Humans
MH  - Infant
MH  - Intracellular Signaling Peptides and Proteins
MH  - Neutropenia/congenital/*genetics
MH  - Neutrophils/chemistry/metabolism
MH  - Oncogene Proteins, Viral/metabolism
MH  - Point Mutation
MH  - Protein-Tyrosine Kinases/chemistry/*metabolism
MH  - RNA, Messenger/blood/genetics
MH  - Receptors, Granulocyte-Macrophage Colony-Stimulating Factor/*genetics/metabolism
MH  - Syk Kinase
MH  - src-Family Kinases/chemistry/*metabolism
EDAT- 2000/01/22 09:00
MHDA- 2000/02/19 09:00
CRDT- 2000/01/22 09:00
PHST- 2000/01/22 09:00 [pubmed]
PHST- 2000/02/19 09:00 [medline]
PHST- 2000/01/22 09:00 [entrez]
PST - ppublish
SO  - Int J Hematol. 1999 Dec;70(4):241-7.