title: Chimeric transcripts resulting from complex duplications in chromosome Xq28.
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.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 604 BG, Houston, TX, 77030, USA.
authors.forename: Luciana W
authors.initials: LW
authors.lastname: Zuccherato
authors.affiliation: Biology Department, University of Iowa, Iowa City, IA, USA.
authors.forename: Benjamin
authors.initials: B
authors.lastname: Alleva
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 604 BG, Houston, TX, 77030, USA.
authors.forename: Marjorie A
authors.initials: MA
authors.lastname: Whiters
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 604 BG, Houston, TX, 77030, USA.|Centro de Pesquisas René Rachou-FIOCRUZ, Belo Horizonte, MG, Brazil.
authors.forename: Claudia M B
authors.initials: CM
authors.lastname: Carvalho
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 604 BG, Houston, TX, 77030, USA. jlupski@bcm.edu.|Pediatrics, Baylor College of Medicine, Houston, TX, USA. jlupski@bcm.edu.|Texas Children's Hospital, Houston, TX, USA. jlupski@bcm.edu.
authors.forename: James R
authors.initials: JR
authors.lastname: Lupski
mesh_terms: D000951:Antigens, Neoplasm / Q000235:genetics; D001483:Base Sequence; D002460:Cell Line; D041321:Chromosomes, Human, X / Q000235:genetics* / Q000378:metabolism; D005091:Exons; D020440:Gene Duplication; D005786:Gene Expression Regulation; D015321:Gene Rearrangement; D006801:Humans; D007438:Introns; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008969:Molecular Sequence Data; D009363:Neoplasm Proteins / Q000235:genetics; D012326:RNA Splicing; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D014158:Transcription, Genetic
chemical_list: D000951:Antigens, Neoplasm; C091247:BCAP31 protein, human; C457202:CSAG1 protein, human; D008565:Membrane Proteins; D009363:Neoplasm Proteins; D012333:RNA, Messenger; C108630:TEX28 protein, human