期刊
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
卷 79, 期 -, 页码 103-112出版社
ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
DOI: 10.1016/j.semcdb.2017.09.036
关键词
U12-type introns; Minor spliceosome; Human diseases; Pre-mRNA splicing; Cryptic splice sites; Exon skipping; Intron retention
资金
- Academy of Finland [140087, 278798]
- Sigrid Juselius Foundation
- Integrative Life Science doctoral program at the University of Helsinki
The U12-dependent (minor) spliceosome excises a rare group of introns that are characterized by a highly conserved 5' splice site and branch point sequence. Several new congenital or somatic diseases have recently been associated with mutations in components of the minor spliceosome. A common theme in these diseases is the detection of elevated levels of transcripts containing U12-type introns, of which a subset is associated with other splicing defects. Here we review the present understanding of minor spliceosome diseases, particularly those associated with the specific components of the minor spliceosome. We also present a model for interpreting the molecular-level consequences of the different diseases. (C) 2017 The Authors. Published by Elsevier Ltd.
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