Minor spliceosome and disease

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

Forskningsoutput: TidskriftsbidragÖversiktsartikelVetenskapligPeer review


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.
TidskriftSeminars in Cell and Developmental Biology
Sidor (från-till)103-112
Antal sidor10
StatusPublicerad - jul 2018
MoE-publikationstypA2 Granska artikel i en vetenskaplig tidskrift


  • 1184 Genetik, utvecklingsbiologi, fysiologi

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