Characterization of a conserved aphidicolin-sensitive common fragile site at human 4q22 and mouse 6C1: possible association with an inherited disease and cancer

摘要: Fragile sites are classified as common or rare depending on their occurrence in the populations. While mainly associated with inherited diseases, have been involved somatic rearrangements found chromosomes of cancer cells. Here we study a mouse locus containing ionotropic glutamate receptor delta 2 (grid2) gene which spontaneous chromosome occur frequently, giving rise to mutant animals inbred We identify and clone fragile overlapping grid2 its human ortholog GRID2, lying respectively at bands 6C1 4q22 7-Mb-long region synteny. These results show third example orthologous conserved molecular level, reveal an unexpected link between disease aphidicolin-sensitive region. Recurrent deletions subregions band previously described hepatocellular carcinomas. This 15-Mb-long appears precisely centered site here, strongly suggests that it also plays specific role hepatic carcinogenesis.