Ontology highlight
ABSTRACT:
SUBMITTER: Zuccherato LW
PROVIDER: S-EPMC5485664 | biostudies-literature | 2016 Feb
REPOSITORIES: biostudies-literature
Zuccherato Luciana W LW Alleva Benjamin B Whiters Marjorie A MA Carvalho Claudia M B CM Lupski James R JR
Human genetics 20151214 2
Gene fusions have been observed in somatic alterations in cancer and in schizophrenia. However, the underlying mechanism(s) for their formation are poorly understood. We experimentally demonstrated the expression of splicing variants of in silico predicted chimeric genes F8/CSAG1 and BCAP31/TEX28 in two individuals with de novo complex genomic rearrangements of Xq28; F8/CSAG1 includes exonization of an ERVL-MaLR intronic repetitive element. We provide evidence that replicative repair may contrib ...[more]