ArticleProceedings of the National Academy of Sciences of the United States of America1995
The Wsh and Ph mutations affect the c-kit expression profile: c-kit misexpression in embryogenesis impairs melanogenesis in Wsh and Ph mutant mice.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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31 citing papers in PubMed, 91 citations in OpenAlex.
- Stem cell factor regulates endothelial HIF-2α expression during hypoxia-driven pathological angiogenesis.BMB reports · 2026Article
- Coat Color Roan Shows Association withGenes · 2020Article
- Development of multiple features of antigen-induced asthma pathology in a new strain of mast cell deficient BALB/c-KitLaboratory investigation; a journal of technical methods and pathology · 2020Article
- Interstitial cells of Cajal in WJournal of smooth muscle research = Nihon Heikatsukin Gakkai kikanshi · 2020Article
- Mast Cells in Liver Fibrogenesis.Cells · 2019Review
- Src tyrosine kinase regulates the stem cell factor-induced breakdown of the blood-retinal barrier.Molecular vision · 2016Article
- Mast cells in human and experimental cardiometabolic diseases.Nature reviews. Cardiology · 2015Review
- Article
- Generation of functional blood vessels from a single c-kit+ adult vascular endothelial stem cell.PLoS biology · 2012Article
- Systemic mast cell degranulation increases mortality during polymicrobial septic peritonitis in mice.Journal of leukocyte biology · 2011Article
- Notochordal and foregut abnormalities correlate with elevated neural crest apoptosis in Patch embryos.Birth defects research. Part A, Clinical and molecular teratology · 2011Article
- Parasitic infection improves survival from septic peritonitis by enhancing mast cell responses to bacteria in mice.PloS one · 2011Article
- Genetic deficiency and pharmacological stabilization of mast cells reduce diet-induced obesity and diabetes in mice.Nature medicine · 2009Article
- A KIT juxtamembrane PY567 -directed pathway provides nonredundant signals for erythroid progenitor cell development and stress erythropoiesis.Experimental hematology · 2009Article
- Genetic inversion in mast cell-deficient (Wsh) mice interrupts corin and manifests as hematopoietic and cardiac aberrancy.The American journal of pathology · 2008Article
- Mast cell IL-6 improves survival from Klebsiella pneumonia and sepsis by enhancing neutrophil killing.Journal of immunology (Baltimore, Md. : 1950) · 2008Article
- The secreted metalloprotease ADAMTS20 is required for melanoblast survival.PLoS genetics · 2008Article
- Mast cell deficiency in Kit(W-sh) mice does not impair antibody-mediated arthritis.The Journal of experimental medicine · 2007Article
- Mast cells modulate the pathogenesis of elastase-induced abdominal aortic aneurysms in mice.The Journal of clinical investigation · 2007Article
- Repression of kit expression by Plzf in germ cells.Molecular and cellular biology · 2007Article
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The receptor tyrosine kinases (RTKs) c-kit and platelet-derived growth factor receptor alpha chain (PDG-FRa) are encoded at the white spotting (W) and patch (Ph) loci on mouse chromosome 5. While W mutations affect melanogenesis, gametogenesis, and hematopoiesis, the Ph mutation affects melanogenesis and causes early lethality in homozygotes. W-sash (Wsh) is an expression mutation and blocks c-kit expression in certain cell types and enhances c-kit expression in others, including at sites important for early melanogenesis. We have determined the effect of Ph on c-kit expression during embryogenesis in Ph heterozygotes. Immunohistochemical analysis revealed enhanced c-kit expression in several cell types, including sites important for early melanogenesis. We propose that in both Wsh and Ph mutant mice c-kit misexpression affects early melanogenesis and is responsible for the pigment deficiency. Moreover, we have defined the organization of the RTKs in the W/Ph region on chromosome 5 and characterized the Wsh mutation by using pulsed-field gel electrophoresis. Whereas the order of the RTK genes was determined as Pdgfra-c-kit-flk1, analysis of the Wsh mutation revealed that the c-kit and Pdgfra genes are unlinked in Wsh, presumably because of an inversion of a small segment of chromosome 5. The Ph mutation consists of a deletion including Pdgfra and the 3' deletion endpoint of Ph lies between Pdgfra and c-kit. Therefore, positive 5' upstream elements controlling c-kit expression in mast cells and some other cell types are affected by the Wsh mutation and negative elements are affected by both the Wsh and the Ph mutation.
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