Chimeric transcripts resulting from complex duplications in chromosome Xq28

Baylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, USA
University of Iowa. Biology Department. Iowa City, IA, USA
Baylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, USA
Baylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, USA/Fundação Oswaldo Cruz. Centro de Pesquisas René Rachou. Belo Horizonte, MG, Brasil
Baylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, USA/ Baylor College of Medicine. Pediatrics. Houston, TX, USA/Texas Children’s Hospital. Houston, TX, USA

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.

Keywords in Portuguese

Transcrição genetica

Keywords

Antigens, Neoplasm/genetics
Chromosomes, Human, X/genetics
Gene Expression Regulation
Molecular Sequence Data
RNA, Messenger/metabolism
Transcription, Genetic

Publisher

Springer-Verlag

Citation

ZUCCHERATO, Luciana Wernec et al. Chimeric transcripts resulting from complex duplications in chromosome Xq28. Hum Genet., vol. 135, n. 2, p. 253-256, 2016

DOI

10.1007/s00439-015-1614-x

ISSN

0340-6717

Please use this identifier to cite or link to this item: https://www.arca.fiocruz.br/handle/icict/16100

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Copyright

Restricted access

Embargo date

2022-01-01

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