title: LNK mutations and myeloproliferative disorders.
abstract: The lymphocyte adaptor protein (LNK) is one of a family of adaptor proteins involved cell signaling and control of B cell populations. It has a critical role in regulation of signaling in hematopoiesis. Lnk negatively regulates cytokine initiated cell signaling and it functions as a negative regulator of the mutant protein in myeloproliferative neoplasms JAK2V617F. A number of mutations in LNK have been described in a variety of myeloproliferative neoplasms some of which have been demonstrated to cause increased cellular proliferation. The majority of mutations occur in exon 2. In a small number of cases idiopathic erythrocytosis with subnormal erythropoietin levels LNK mutations have been found which may account for the clinical phenotype. Thus investigation for LNK mutations should be considered in the investigation of idiopathic erythrocytosis and perhaps other myeloproliferative neoplasms.
authors.affiliation: Centre for Cancer Research and Cell Biology, Queen's University, Belfast, Northern Ireland.
authors.forename: Mary Frances
authors.initials: MF
authors.lastname: McMullin
authors.affiliation: Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany.
authors.forename: Holger
authors.initials: H
authors.lastname: Cario
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000818:Animals; D049109:Cell Proliferation / Q000235:genetics; D005091:Exons / Q000235:genetics; D006412:Hematopoietic Stem Cells / Q000378:metabolism; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D053614:Janus Kinase 2 / Q000235:genetics; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000235:genetics* / Q000473:pathology; D011086:Polycythemia / Q000235:genetics* / Q000473:pathology; D011506:Proteins / Q000235:genetics*; D015398:Signal Transduction / Q000235:genetics
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D047908:Intracellular Signaling Peptides and Proteins; D011506:Proteins; C490778:SH2B3 protein, human; C507924:JAK2 protein, human; D053614:Janus Kinase 2