Chimeric transcripts resulting from complex duplications in chromosome Xq28

Hum Genet. 2016 Feb;135(2):253-6. doi: 10.1007/s00439-015-1614-x. Epub 2015 Dec 14.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antigens, Neoplasm / genetics
  • Base Sequence
  • Cell Line
  • Chromosomes, Human, X / genetics*
  • Chromosomes, Human, X / metabolism
  • Exons
  • Gene Duplication*
  • Gene Expression Regulation
  • Gene Rearrangement
  • Humans
  • Introns
  • Male
  • Membrane Proteins / genetics
  • Molecular Sequence Data
  • Neoplasm Proteins / genetics
  • RNA Splicing
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Transcription, Genetic*


  • Antigens, Neoplasm
  • BCAP31 protein, human
  • CSAG1 protein, human
  • Membrane Proteins
  • Neoplasm Proteins
  • RNA, Messenger
  • TEX28 protein, human