| Author | Zuccherato, Luciana Wernec | |
| Author | Alleva, Benjamin | |
| Author | Whiters, Marjorie A. | |
| Author | Carvalho, Claudia Márcia Benedetto de | |
| Author | Lupski, James R. | |
| Access date | 2016-10-05T17:59:51Z | |
| Available date | 2016-10-05T17:59:51Z | |
| Document date | 2016 | |
| 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 | pt_BR |
| ISSN | 0340-6717 | pt_BR |
| URI | https://www.arca.fiocruz.br/handle/icict/16100 | |
| Language | eng | pt_BR |
| Publisher | Springer-Verlag | pt_BR |
| Rights | restricted access | pt_BR |
| Subject in Portuguese | Transcrição genetica | pt_BR |
| Title | Chimeric transcripts resulting from complex duplications in chromosome Xq28 | pt_BR |
| Type | Article | pt_BR |
| DOI | 10.1007/s00439-015-1614-x | |
| 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. | pt_BR |
| Affilliation | Baylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, USA | pt_BR |
| Affilliation | University of Iowa. Biology Department. Iowa City, IA, USA | pt_BR |
| Affilliation | Baylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, USA | pt_BR |
| Affilliation | 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 | pt_BR |
| Affilliation | 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 | pt_BR |
| Subject | Antigens, Neoplasm/genetics | pt_BR |
| Subject | Chromosomes, Human, X/genetics | pt_BR |
| Subject | Gene Expression Regulation | pt_BR |
| Subject | Molecular Sequence Data | pt_BR |
| Subject | RNA, Messenger/metabolism | pt_BR |
| Subject | Transcription, Genetic | pt_BR |
| Embargo date | 2022-01-01 | |
