Determination of a minimal region of loss of heterozygosity on chromosome 18Q21.33 in osteosarcoma
INTERNATIONAL JOURNAL OF CANCER
Authors: Johnson-Pais, TL; Nellissery, MJ; Ammerman, DG; Pathmanathan, D; Bhatia, P; Buller, CL; Leach, RJ; Hansen, MF
Abstract
Previous analysis of tumor-specific constitutional LOH had identified a putative tumor-suppressor gene (LOH18CR) active in osteosarcoma tumorigenesis, which mapped to a subregion of chromosome 18q linked to both familial Paget's disease and FEO. Using 9 new polymorphic loci within the previous minimal region of LOH, we have reduced the minimal region of LOH in osteosarcoma tumors to localize the LOH18CR locus to the distal end of chromosome 18q21.33. This new region is approximately 500 kb and contains at least 7 known genes; however, it excludes 2 previous candidate genes: TNFRSF11A (RANK) and BCL2. (C) 2003 Wiley-Liss, Inc.
Short, local duplications in eukaryotic genomes
CURRENT OPINION IN GENETICS & DEVELOPMENT
Authors: Thomas, EE
Abstract
Short, local duplications lead to an increase in the local copy number of a 1-100 bp sequence motif. They are usually unstable and evolve rapidly. When they involve a functional sequence such as a transcription factor binding site or a protein-protein interaction domain, they can drive phenotypic diversity. Short, local duplications have been implicated in the dramatic morphological differences among different dog breeds, and in the differences in social structure between two sister species of voles. Several human diseases and disorders are also caused by this class of duplication, which encompasses microsatellites, minisatellites and doublets.