Clustering of Activating Mutations in c-KIT’s Juxtamembrane Coding Region in Canine Mast Cell Neoplasms Yongsheng Ma, B. Jack Longley, Xiaomei Wang

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Clustering of Activating Mutations in c-KIT’s Juxtamembrane Coding Region in Canine Mast Cell Neoplasms Yongsheng Ma, B. Jack Longley, Xiaomei Wang Journal of Investigative Dermatology Volume 112, Issue 2, Pages 165-170 (February 1999) DOI: 10.1046/j.1523-1747.1999.00488.x Copyright © 1999 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Nucleotide and deduced amino acid sequence of canine KIT. Predicted extracellular domain cysteines are shaded (the first Cys lies in the signal peptide). Asn residues at consensus glycosylation sites are marked with asterisks (*). The predicted transmembrane domain is shaded. Residues affected by the mis-sense mutations and deletions reported in this work lie within black boxes. A peptide repeated in the inserted sequence in C1 and C2 mastocytoma cells is underlined. The site of the 48 bp C1/C2 nucleotide insertion is shown by a caret (^). The normal dog KIT cDNA sequence has been deposited in the GenBank database (accession number AF044249). Journal of Investigative Dermatology 1999 112, 165-170DOI: (10.1046/j.1523-1747.1999.00488.x) Copyright © 1999 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Predicted structure of canine KIT. (a) Extracellular immunoglobulin-like loops I–V are depicted as partially closed circles; the location of cysteines (S-S) and potential glycosylation sites (*) are marked. Intracellularly, the juxtamembrane, ATP-binding, kinase insert, phosphotransferase, and C-terminal tail regions are indicated. (b) A model of canine KIT intracellular tyrosine kinase (and a portion of the juxtamembrane region) prepared by homology modeling using the known structure of the FGF receptor tyrosine kinase (Mohammadi et al. 1996). In the ATP-binding and phosphotransferase lobes of the tyrosine kinase, β (lightly shaded ribbons) and α (darkly shaded ribbons) secondary structure predominate, respectively. The site of the 16-amino acid insertion in C1 and C2 cells is indicated, as is the location of the Leu575Pro substitution detected in SW mastocytoma and BR cells. The locations of critical nucleotide binding and catalytic loops and of the “activation loop,” which contains tyrosine residues thought to be phosphorylated and is a site of a previously recognized KIT activating mutation (Furitsu et al. 1993), are indicated. Journal of Investigative Dermatology 1999 112, 165-170DOI: (10.1046/j.1523-1747.1999.00488.x) Copyright © 1999 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 3 KIT is highly activated by juxtamembrane mutations. (a) Anti-pTyr blot of immunoprecipitated human WT and juxtamembrane-mutated KIT transiently expressed in COS-7 cells treated, or not, with rhSCF (100 ng per ml, 10 min) following serum starvation reveals that the four mutants are spontaneously phosphorylated (lanes 3, 5, 7, 9) at strikingly high levels compared with normal receptor (lane 1). (b) Reprobing the upper blot (after stripping) with anti-KIT antibody shows relative amount of two isoforms of WT (lanes 1–2) and mutant (lanes 3–10) KIT. Molecular weight marker positions (in kDa) are indicated. Journal of Investigative Dermatology 1999 112, 165-170DOI: (10.1046/j.1523-1747.1999.00488.x) Copyright © 1999 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 4 KIT in C1 and C2 cells are highly autophosphorylated. (a) Anti-pTyr blot of total cell lysates of human melanocytes (HM) and C1 and C2 cells incubated, or not, with rcSCF (100 ng per ml, 10 min) following serum starvation shows that spontaneous phosphorylation of canine KIT (lanes 3, 5) is markedly higher than that of normal human KIT (lane 1) and ≈80% of rcSCF-induced phosphorylation of the canine receptors (lanes 4, 6). (b) Reprobing the upper blot (after stripping) with anti-human KIT antibody substantiates comparable protein amount of human (lanes 1–2) and canine (lanes 3–6) receptors. Marker protein positions (in kDa) are indicated. Journal of Investigative Dermatology 1999 112, 165-170DOI: (10.1046/j.1523-1747.1999.00488.x) Copyright © 1999 The Society for Investigative Dermatology, Inc Terms and Conditions