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Query: UMLS:C0312414 (Spotting)
 88 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

p145c-kit is expressed in cell lineages of diverse origin and appears to regulate distinct cell type characteristic functions. Independent mutations at the murine Dominant White Spotting (W) locus result in the alteration of p145c-kit tyrosine kinase activity and signalling potential, which differentially affects melanocyte migration, germ cell regeneration and hematopoietic cell differentiation. Molecules that may be involved in mediation and definition of p145c-kit signalling pathways were investigated in cell lines of hematopoietic, melanogenic and central nervous system origin. High-affinity association of endogenous cellular proteins with activated p145c-kit was limited to a characteristic set of molecules that correlated with the presence of phosphatidylinositol (PtdIns) 3'-kinase activity. The observed association pattern of proteins was cell type characteristic, and all of the proteins were displaced from the receptor by competition with excess receptor binding subunit of PtdIns 3'-kinase. Our data indicate that PtdIns 3'-kinase associates with p145c-kit as part of a multimeric signalling complex, and suggest that the cell type characteristic composition of this complex influences the signalling potential of p145c-kit in the diverse cell types in which it is expressed and thereby defines its cell type-specific functions.
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PMID:Phosphatidylinositol 3'-kinase associates with p145c-kit as part of a cell type characteristic multimeric signalling complex. 769 98

White spotting is the absence of melanocytes (pigment cells) from part or all of the locations in the body where they are normally found. At least in the case of the W (kit) locus, white spotting has been attributed to apoptosis. In addition to the death of melanoblasts, white spotting might result from their failure to migrate to their normal locations. These developmental failures are known to be melanocyte-specific in some instances and environment-specific in others. The environment is defined as the tissues surrounding the melanoblast. Patterns of white spotting were examined on mice mutant at the piebald (s), patch (Ph), dominant spotting (W(J2)) rumpwhite (Rw) or belted (bt) loci. The dominant spotting locus has been cloned and found to encode KIT; it has been suggested that Patch encodes the linked alpha-PDGF receptor. Piebald encodes the endothelin beta receptor. In each case, the phenotypes expressed when the allele was backcrossed onto one inbred strain C57BL/6 (B6), were compared with phenotypes expressed when the allele was backcrossed onto a different inbred strain, JU/CtLm (JU). The literature documents genetic loci that influence the extent of the white spotted area; we herein demonstrate that genetic loci also influence the location where the white spot (absence of melanocytes) will occur over the body of the mouse. Spotting occurs in a more anterior direction on JU mice that are piebald, patch or dominant-spotted compared with similar B6 mice. The relationship is reversed in rumpwhite mice, where white spotting is more anterior in the C57BL/6 mice than in the JU mice. The spotting pattern of belted mice was not modified by the background genome. Thus, the Mendelian observations indicate that several loci, which differ in JU compared with B6 mice, influence the size and the location of white spots on the mouse.
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PMID:Strain-specific white-spotting patterns in laboratory mice. 1061 78