Chimeric transcripts resulting from complex duplications in chromosome Xq28.

TitleChimeric transcripts resulting from complex duplications in chromosome Xq28.
Publication TypeJournal Article
Year of Publication2016
AuthorsZuccherato, LW, Alleva, B, Whiters, MA, Carvalho, CMB, Lupski, JR
JournalHum Genet
Date Published2016 Feb
KeywordsAntigens, Neoplasm, Base Sequence, Cell Line, Chromosomes, Human, X, Exons, Gene Duplication, Gene Expression Regulation, Gene Rearrangement, Humans, Introns, Male, Membrane Proteins, Molecular Sequence Data, Neoplasm Proteins, RNA Splicing, RNA, Messenger, Transcription, Genetic

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 contribute to exon shuffling processes and diversify the repertoire of expressed transcripts.

Alternate JournalHum. Genet.
PubMed ID26667017
PubMed Central IDPMC5485664
Grant ListR01 NS058529 / NS / NINDS NIH HHS / United States
UM1 HG006542 / HG / NHGRI NIH HHS / United States