Cloning and sequencing of an alternative splicing-derived cDNA variant of the GM-CSF receptor alpha subunit, which encodes a truncated protein.
GM-CSF interacts with the low affinity GM-CSF receptor alpha-subunit, which leads to high affinity association with the alpha-subunit/common beta-subunit complex and transduction of intracellular signals leading to proliferation, differentiation, and/or activation of hemopoietic cells, predominantly in the neutrophil and monocyte/macrophage lineages. Several alternative splicing-derived variants of the GM-CSF receptor alpha-subunit have been described previously by this and other laboratories. A newly discovered alternative-splicing derived variant was isolated from the peripheral blood mononuclear cells of a patient with juvenile myelomonocytic leukemia. This variant lacks 397 base pairs corresponding to exons 8-11 of the wild type GM-CSF receptor alpha-subunit cDNA and potentially encodes a 233 amino acid protein lacking a membrane-anchoring domain and creating the fourth known potential soluble isoform of the alpha-subunit of the GM-CSF receptor.
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Department of Internal Medicine, University of South Florida, and H. Lee Moffitt Cancer Center and Research Institute, Tampa 33612, USA.
Zuckerman
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D017398:Alternative Splicing; D002648:Child; D003001:Cloning, Molecular; D018076:DNA, Complementary / Q000235:genetics*; D005815:Genetic Code; D006801:Humans; D015477:Leukemia, Myelomonocytic, Chronic / Q000235:genetics*; D008969:Molecular Sequence Data; D010446:Peptide Fragments / Q000235:genetics*; D016187:Receptors, Granulocyte-Macrophage Colony-Stimulating Factor / Q000737:chemistry / Q000235:genetics*; D017422:Sequence Analysis, DNA
D018076:DNA, Complementary; D010446:Peptide Fragments; D016187:Receptors, Granulocyte-Macrophage Colony-Stimulating Factor