ArticleExperimental hematology2013
KIT GNNK splice variants: expression in systemic mastocytosis and influence on the activating potential of the D816V mutation in mast cells.
Article in Experimental hematology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 20 citations in OpenAlex.
- Detection ofInternational journal of molecular sciences · 2024Review
- Activation of the receptor KIT induces the secretion of exosome-like small extracellular vesicles.Journal of extracellular biology · 2024Article
- Exon-1 skipping and intron-1 retaining by alternative splicing of the c-KIT gene encodes a novel splice variant in the skin of Merino sheep (Ovis aries).Molecular biology reports · 2021Article
- Description and Characterization of a Novel Human Mast Cell Line for Scientific Study.International journal of molecular sciences · 2019Article
- Mastocytosis: from a Molecular Point of View.Clinical reviews in allergy & immunology · 2018Review
- Review
- Systemic Mastocytosis Causing Refractory Pruritus in a Liver Disease Patient.ACG case reports journal · 2016Article
- Identification of the two KIT isoforms and their expression status in canine hemangiosarcomas.BMC veterinary research · 2016Article
- Regulation of Reactive Oxygen Species and the Antioxidant Protein DJ-1 in Mastocytosis.PloS one · 2016Article
- Mastocytosis associated with a rare germline KIT K509I mutation displays a well-differentiated mast cell phenotype.The Journal of allergy and clinical immunology · 2014Article
- Functional deregulation of KIT: link to mast cell proliferative diseases and other neoplasms.Immunology and allergy clinics of North America · 2014Review
- A ten-year retrospective analysis of the distribution, use and phenotypic characteristics of the LAD2 human mast cell line.International archives of allergy and immunology · 2014Article
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
Abstract
Stem cell factor-dependent KIT activation is an essential process for mast cell homeostasis. The two major splice variants of KIT differ by the presence or absence of four amino acids (GNNK) at the juxta-membrane region of the extracellular domain. We hypothesized that the expression pattern of these variants differs in systemic mastocytosis and that transcripts containing the KIT D816V mutation segregate preferentially to one GNNK variant. A quantitative real-time PCR assay to assess GNNK(-) and GNNK(+) transcripts from bone marrow mononuclear cells was developed. The GNNK(-)/GNNK(+) copy number ratio showed a trend toward a positive correlation with the percentage of neoplastic mast cell involvement, and KIT D816V containing transcripts displayed a significantly elevated GNNK(-)/GNNK(+) copy number ratio. Relative expression of only the GNNK(-) variant correlated with increasing percentage of neoplastic mast cell involvement. A mast cell transfection system revealed that the GNNK(-) isoform of wild type KIT was associated with increased granule formation, histamine content, and growth. When accompanying the KIT D816V mutation, the GNNK(-) isoform enhanced cytokine-free metabolism and moderately reduced sensitivity to the tyrosine kinase inhibitor, PKC412. These data suggest that neoplastic mast cells favor a GNNK(-) variant predominance, which in turn enhances the activating potential of the KIT D816V mutation and thus could influence therapeutic sensitivity in systemic mastocytosis.
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