Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Mastzellenwachtumsfaktor-Rezeptor

Das KIT-Gen kodiert einen Rezeptor über den das Wachstum der Mastzellen gesteuert wird. Mutationen finden sich deshalb bei Mastzellaktivierungssyndrom. Da es sich auch um ein Onkogen handelt sind Mutationen auch bei verschiedenen Tumoren gefunden worden.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Mastzell-Aktivierungs-Syndrom
KIT
Piebaldismus
KIT

Referenzen:

1.

Ingram DA et al. (2000) Genetic and biochemical evidence that haploinsufficiency of the Nf1 tumor suppressor gene modulates melanocyte and mast cell fates in vivo.

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2.

Giebel LB et al. (1991) Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism.

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3.

Spritz RA et al. (1998) Piebaldism with deafness: molecular evidence for an expanded syndrome.

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4.

Richards KA et al. (2001) A novel KIT mutation results in piebaldism with progressive depigmentation.

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5.

Spritz RA et al. (1992) Deletion of the KIT and PDGFRA genes in a patient with piebaldism.

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6.

Spritz RA et al. (1992) Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism.

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7.

None (1992) Human piebald trait resulting from a dominant negative mutant allele of the c-kit membrane receptor gene.

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8.

Vandenbark GR et al. (1992) Cloning and structural analysis of the human c-kit gene.

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9.

Spritz RA et al. (1992) Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism.

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10.

Tan JC et al. (1990) The dominant W42 spotting phenotype results from a missense mutation in the c-kit receptor kinase.

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11.

Nocka K et al. (1990) Molecular bases of dominant negative and loss of function mutations at the murine c-kit/white spotting locus: W37, Wv, W41 and W.

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12.

Brannan CI et al. (1991) Steel-Dickie mutation encodes a c-kit ligand lacking transmembrane and cytoplasmic domains.

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13.

Fleischman RA et al. (1991) Deletion of the c-kit protooncogene in the human developmental defect piebald trait.

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14.

Dubreuil P et al. (1991) The c-fms gene complements the mitogenic defect in mast cells derived from mutant W mice but not mi (microphthalmia) mice.

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15.

Yarden Y et al. (1987) Human proto-oncogene c-kit: a new cell surface receptor tyrosine kinase for an unidentified ligand.

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16.

Chabot B et al. (1988) The proto-oncogene c-kit encoding a transmembrane tyrosine kinase receptor maps to the mouse W locus.

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17.

Geissler EN et al. (1988) The dominant-white spotting (W) locus of the mouse encodes the c-kit proto-oncogene.

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18.

Bolognia JL et al. (1988) Biology of hypopigmentation.

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19.

d'Auriol L et al. (1988) Localization of the human c-kit protooncogene on the q11-q12 region of chromosome 4.

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20.

Nagata H et al. (1995) Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder.

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21.

Tsujimura T et al. (1994) Ligand-independent activation of c-kit receptor tyrosine kinase in a murine mastocytoma cell line P-815 generated by a point mutation.

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22.

Huizinga JD et al. (1995) W/kit gene required for interstitial cells of Cajal and for intestinal pacemaker activity.

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23.

Furitsu T et al. (1993) Identification of mutations in the coding sequence of the proto-oncogene c-kit in a human mast cell leukemia cell line causing ligand-independent activation of c-kit product.

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24.

Packer AI et al. (1995) Kit ligand mediates survival of type A spermatogonia and dividing spermatocytes in postnatal mouse testes.

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25.

Longley BJ et al. (1996) Somatic c-KIT activating mutation in urticaria pigmentosa and aggressive mastocytosis: establishment of clonality in a human mast cell neoplasm.

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26.

Johansson Moller M et al. (1996) Pigs with the dominant white coat color phenotype carry a duplication of the KIT gene encoding the mast/stem cell growth factor receptor.

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27.

Pignon JM et al. (1997) A new c-kit mutation in a case of aggressive mast cell disease.

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28.

Hirota S et al. (1998) Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors.

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29.

Beghini A et al. (1998) c-kit activating mutations and mast cell proliferation in human leukemia.

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30.

Thomsen L et al. (1998) Interstitial cells of Cajal generate a rhythmic pacemaker current.

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31.

Nishida T et al. (1998) Familial gastrointestinal stromal tumours with germline mutation of the KIT gene.

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32.

Nomura K et al. (1998) A novel KIT gene missense mutation in a Japanese family with piebaldism.

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33.

Marklund S et al. (1998) Molecular basis for the dominant white phenotype in the domestic pig.

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34.

Vincent S et al. (1998) Stage-specific expression of the Kit receptor and its ligand (KL) during male gametogenesis in the mouse: a Kit-KL interaction critical for meiosis.

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35.

Worobec AS et al. (1998) Clinical correlates of the presence of the Asp816Val c-kit mutation in the peripheral blood mononuclear cells of patients with mastocytosis.

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36.

Lasota J et al. (1999) Mutations in exon 11 of c-Kit occur preferentially in malignant versus benign gastrointestinal stromal tumors and do not occur in leiomyomas or leiomyosarcomas.

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37.

Longley BJ et al. (1999) Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis.

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38.

Tian Q et al. (1999) Activating c-kit gene mutations in human germ cell tumors.

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39.

Reinsch N et al. () A QTL for the degree of spotting in cattle shows synteny with the KIT locus on chromosome 6.

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40.

Blume-Jensen P et al. (2000) Kit/stem cell factor receptor-induced activation of phosphatidylinositol 3'-kinase is essential for male fertility.

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41.

Kissel H et al. (2000) Point mutation in kit receptor tyrosine kinase reveals essential roles for kit signaling in spermatogenesis and oogenesis without affecting other kit responses.

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42.

Isozaki K et al. (2000) Germline-activating mutation in the kinase domain of KIT gene in familial gastrointestinal stromal tumors.

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43.

Syrris P et al. (2000) Three novel mutations of the proto-oncogene KIT cause human piebaldism.

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44.

Joensuu H et al. (2001) Effect of the tyrosine kinase inhibitor STI571 in a patient with a metastatic gastrointestinal stromal tumor.

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45.

Fritsche-Polanz R et al. (2001) Mutation analysis of C-KIT in patients with myelodysplastic syndromes without mastocytosis and cases of systemic mastocytosis.

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46.

Taylor ML et al. (2001) The Kit-activating mutation D816V enhances stem cell factor--dependent chemotaxis.

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47.

Beghini A et al. (2001) Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa.

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48.

Savage DG et al. (2002) Imatinib mesylate--a new oral targeted therapy.

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49.

De Miguel MP et al. (2002) Dissection of the c-Kit signaling pathway in mouse primordial germ cells by retroviral-mediated gene transfer.

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50.

Giuffra E et al. (2002) A large duplication associated with dominant white color in pigs originated by homologous recombination between LINE elements flanking KIT.

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51.

Sommer G et al. (2003) Gastrointestinal stromal tumors in a mouse model by targeted mutation of the Kit receptor tyrosine kinase.

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52.

Rothschild G et al. (2003) A role for kit receptor signaling in Leydig cell steroidogenesis.

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53.

Chen LL et al. (2005) A mutation-created novel intra-exonic pre-mRNA splice site causes constitutive activation of KIT in human gastrointestinal stromal tumors.

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54.

Rubin BP et al. (2005) A knock-in mouse model of gastrointestinal stromal tumor harboring kit K641E.

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55.

Rassoulzadegan M et al. (2006) RNA-mediated non-mendelian inheritance of an epigenetic change in the mouse.

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56.

Kondo R et al. (2007) Identification of heat shock protein 32 (Hsp32) as a novel survival factor and therapeutic target in neoplastic mast cells.

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57.

Kasamatsu S et al. (2008) Production of the soluble form of KIT, s-KIT, abolishes stem cell factor-induced melanogenesis in human melanocytes.

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58.

Mani M et al. (2009) Wiskott-Aldrich syndrome protein is an effector of Kit signaling.

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59.

Chi P et al. (2010) ETV1 is a lineage survival factor that cooperates with KIT in gastrointestinal stromal tumours.

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60.

Orphanet article

Orphanet ID 122862 [^]
61.

NCBI article

NCBI 3815 [^]
62.

OMIM.ORG article

Omim 164920 [^]
Update: 9. Mai 2019