Article
Chimeric transcripts resulting from complex duplications in chromosome Xq28
Registro en:
ZUCCHERATO, Luciana Wernec et al. Chimeric transcripts resulting from complex duplications in chromosome Xq28. Hum Genet., vol. 135, n. 2, p. 253-256, 2016
0340-6717
10.1007/s00439-015-1614-x
Autor
Zuccherato, Luciana Wernec
Alleva, Benjamin
Whiters, Marjorie A.
Carvalho, Claudia Márcia Benedetto de
Lupski, James R.
Resumen
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. 2022-01-01