Gene: [05q33/CSF1R] colony stimulating factor 1 (macrophage-specific, CSF-M) receptor; McDonough feline sarcoma viral homolog; friend-murine leukemia virus integration site 2 homolog; anemia macrocytic, refractory (5q-minus syndrome, MIM:153550); [MCSFR FMS ]
COM | The GDB indicates the regional location q33.3-34 [GDB:G00-120-600:LOC='05 q33.3-34']. |
FAG | There are two other friend-murine leukemia virus integration site homologues (GEM:06p2/FIM1 and GEM:03q27/FIM3) and several fms-related genes (GEM:13q12/FLT1; GEM:08p12/FGFR1; GEM:13q12/FLT3; GEM:04q12/PDGFRA; GEM:04q12/KIT; GEM:05q33/CSF1R; GEM:05q3/PDGFRB; GEM:19p132/TYK2) in the genome. They are assigned to the src multigene family, which comprises also the protooncogene c-ros-1 (GEM:06q22/ROS1)." |
PAT | [1] After
the first description (van den Berghe-1974) of a case of refractory
macrocytic anemia associated with deletion of a part of the chr 5 long arm,
a similar chromosomal aberration was also revealed in a number of other
hematological pathologies, including those with malignant progression. In
most cases, the clinical picture and the progression of anemia in 5q-minus
cyndrome are relatively mild, and in the absence of other chromosomal
aberrations in addition to 5q-minus, the transformation into acute leukemia
is very unfrequent. [2] Since a gene for the ligand (CSF1) is located close to that for the receptor, and, moreover, genes for many other cytokines are located in the same region of 5q3, it is not clear, if the FMS/CSF1R rearrangements only cause the cell malignization in 5q-minus syndrome." |
HIS | Several synonymous designations for this marker are encountered, which reflect the history of the locus research. Syndrome 5q-minus (refractory macrocytic anemia; RMA) is known since 1974. In 1980s, the protooncogene FMS was mapped to this region of chr 5q, and RMA began to be related to its rearrangements due to 5q3 deletions; this was also the case for a number of other myelodysplastic syndromes (both spontaneous and induced in the course of cytostatic therapy; MDS, ANLL). Almost simultaneously the fms oncogene was shown to represent the receptor for macrophage growth factor." |
REF | EXP,PAT "Bunn: Clin
Haematol, 15, 1023-1035, 1986 EXP,PAT "Dubreuil &: Blood, 72, N3, 1081-1085, 1988 LOC,CYG,PAT "Groffen J &: CCG, 37, (HGM7), 484, 1984 LOC,CYG,PAT "Groffen J &: NAR, 11, 6331-6339, 1983 SEQ,EVO "Hampe A &: PNAS, 81, 85-89, 1984 LOC,CYG,PAT "Le Beau MM &: Science, 231, 984-987, 1986 LOC,CYG,PAT "Morgan &: New Engl J Med, 314, 1322, 1986 LOC,FAG "Nguyen &: CCG, 46, (HGM9), 670, 1987 EXP,PAT "Nienhuis AW &: Cell, 42, 421-428, 1985 LIN "Roberts WM &: Cell, 55, 655-661, 1988 PRO,LOC "Roussel MF &: J Virol, 48, 770-773, 1983 SEQ,EVO "Schrader &: PNAS, 83, N8, 2458-2462, 1986 EXP,PAT "Stuart, Mangan: Am J Med, 80, 503-507, 1986 LOC,CYG,PAT "Tinegate &: Brit J Haematol, 53, 103-110, 1983 LOC,EVO,FAG "Van Cong N &: Hum Genet, 81, N3, 257-263, 1989 EXP,PAT "van den Berghe H: Scand J Haematol, 36, (Suppl 45), 78-81, 1986 EXP,PAT "van den Berghe H &: Cancer Genet Cytogenet, 17, 189-255, 1985 LOC,CYG,PAT "van den Berghe H &: Nature, 251, 437-438, 1974 EXP,PAT "Verbeek JS &: Brit J Haematol, 61, 135-138, 1985a EXP,PAT "Verbeek JS &: Mol Cell Biol, 5, 422-426, 1985b GEN,POL "Xu DQ &: PNAS, 82, 2862-2865, 1985 |
SWI | SWISSPROT: P07333 |
KEY | cyk, hem, onc, recp, vir |
CLA | coding, basic |
LOC | 05 q33.2-.3 |
MIM | MIM: 164770 |
SYN | MCSFR FMS |
Смотрите также:
