Minor spliceosome and disease

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Verma , B K , Akinyi , M V , Norppa , A J & Frilander , M J 2018 , ' Minor spliceosome and disease ' , Seminars in Cell and Developmental Biology , vol. 79 , pp. 103-112 . https://doi.org/10.1016/j.semcdb.2017.09.036

Title: Minor spliceosome and disease
Author: Verma, Bhupendra Kumar; Akinyi, Maureen Veronica; Norppa, Antto Juhani; Frilander, Mikko Juhani
Contributor organization: Institute of Biotechnology
Minor spliceosome
Date: 2018-07
Language: eng
Number of pages: 10
Belongs to series: Seminars in Cell and Developmental Biology
ISSN: 1084-9521
DOI: https://doi.org/10.1016/j.semcdb.2017.09.036
URI: http://hdl.handle.net/10138/240373
Abstract: tThe U12-dependent (minor) spliceosome excises a rare group of introns that are characterized by ahighly conserved 5splice site and branch point sequence. Several new congenital or somatic diseaseshave recently been associated with mutations in components of the minor spliceosome. A commontheme 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 understandingof minor spliceosome diseases, particularly those associated with the specific components of the minorspliceosome. We also present a model for interpreting the molecular-level consequences of the differentdiseases.
Subject: 1184 Genetics, developmental biology, physiology
RNA
DISEASE ASSOCIATIONS
SPLICEOSOME
U12-type introns
Minor spliceosome
Human diseases
Pre-mRNA splicing
Cryptic splice sites
Exon skipping
Intron retention
AT-AC INTRON
GROWTH-HORMONE DEFICIENCY
DISORDER MOPD I
U12-TYPE INTRONS
DEVELOPMENTAL DISORDER
U12-DEPENDENT SPLICEOSOME
MYELODYSPLASTIC SYNDROME
U11-59K PROTEIN
SMN DEFICIENCY
GENE-MUTATIONS
Peer reviewed: Yes
Rights: cc_by
Usage restriction: openAccess
Self-archived version: draft


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