Mutation and copy number analysis of LNX1 and Numbl in nervous system tumors

摘要: Abstract Alterations at chromosome locus 4q12 are frequently found in gliomas; this contains the receptor tyrosine kinase–encoding genes KIT , PDGFRA and KDR (alias VEGFR2 ). Notable among is LNX1 ligand of Numb protein X. encodes a PDZ domain containing protein, which interacts with cell fate determinant Numbl, homolog-like gene involved maintenance neural progenitor cells during embryonic neurogenesis. We performed mutation analysis for Numbl genes. In addition, copy numbers human nervous system tumors were analyzed by chromogenic situ hybridization. Tissue samples from 90 patients screened mutations, tissue sections 56 amplification status. Our revealed missense mutations exons 3 5 single-nucleotide polymorphism exon 6. polyglutamine repeat was 10. Chromogenic hybridization showed 10%, 5%, 6% tumors. Both sequence alterations amplifications present subset gliomas, role these neurogenesis suggests that they may contribute to development glial