Minor spliceosome and disease

Bhupendra Kumar Verma, Maureen Veronica Akinyi, Antto Juhani Norppa, Mikko Juhani Frilander

Tutkimustuotos: ArtikkelijulkaisuKatsausartikkeliTieteellinenvertaisarvioitu

Abstrakti

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.
Alkuperäiskielienglanti
LehtiSeminars in Cell and Developmental Biology
Vuosikerta79
Sivut103-112
Sivumäärä10
ISSN1084-9521
DOI - pysyväislinkit
TilaJulkaistu - heinäkuuta 2018
OKM-julkaisutyyppiA2 Katsausartikkeli tieteellisessä aikakauslehdessä

Tieteenalat

  • 1184 Genetiikka, kehitysbiologia, fysiologia

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