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

Chimeric transcripts resulting from complex duplications in chromosome Xq28.

Author information

  • 1Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 604 BG, Houston, TX, 77030, USA.
  • 2Biology Department, University of Iowa, Iowa City, IA, USA.
  • 3Centro de Pesquisas RenĂ© Rachou-FIOCRUZ, Belo Horizonte, MG, Brazil.
  • 4Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 604 BG, Houston, TX, 77030, USA. jlupski@bcm.edu.
  • 5Pediatrics, Baylor College of Medicine, Houston, TX, USA. jlupski@bcm.edu.
  • 6Texas Children's Hospital, Houston, TX, USA. jlupski@bcm.edu.

Abstract

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.

PMID:
26667017
DOI:
10.1007/s00439-015-1614-x
[PubMed - indexed for MEDLINE]
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