Minor spliceosome and disease

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

Research output: Contribution to journalReview ArticleScientificpeer-review

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.
Original languageEnglish
JournalSeminars in Cell and Developmental Biology
Volume79
Pages (from-to)103-112
Number of pages10
ISSN1084-9521
DOIs
Publication statusPublished - Jul 2018
MoE publication typeA2 Review article in a scientific journal

Fields of Science

  • 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

Cite this

Verma, Bhupendra Kumar ; Akinyi, Maureen Veronica ; Norppa, Antto Juhani ; Frilander, Mikko Juhani. / Minor spliceosome and disease. In: Seminars in Cell and Developmental Biology. 2018 ; Vol. 79. pp. 103-112.
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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.",
keywords = "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",
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Minor spliceosome and disease. / Verma, Bhupendra Kumar; Akinyi, Maureen Veronica; Norppa, Antto Juhani; Frilander, Mikko Juhani.

In: Seminars in Cell and Developmental Biology, Vol. 79, 07.2018, p. 103-112.

Research output: Contribution to journalReview ArticleScientificpeer-review

TY - JOUR

T1 - Minor spliceosome and disease

AU - Verma, Bhupendra Kumar

AU - Akinyi, Maureen Veronica

AU - Norppa, Antto Juhani

AU - Frilander, Mikko Juhani

PY - 2018/7

Y1 - 2018/7

N2 - 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.

AB - 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.

KW - 1184 Genetics, developmental biology, physiology

KW - RNA

KW - DISEASE ASSOCIATIONS

KW - SPLICEOSOME

KW - U12-type introns

KW - Minor spliceosome

KW - Human diseases

KW - Pre-mRNA splicing

KW - Cryptic splice sites

KW - Exon skipping

KW - Intron retention

KW - AT-AC INTRON

KW - GROWTH-HORMONE DEFICIENCY

KW - DISORDER MOPD I

KW - U12-TYPE INTRONS

KW - DEVELOPMENTAL DISORDER

KW - U12-DEPENDENT SPLICEOSOME

KW - MYELODYSPLASTIC SYNDROME

KW - U11-59K PROTEIN

KW - SMN DEFICIENCY

KW - GENE-MUTATIONS

U2 - 10.1016/j.semcdb.2017.09.036

DO - 10.1016/j.semcdb.2017.09.036

M3 - Review Article

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JO - Seminars in Cell and Developmental Biology

JF - Seminars in Cell and Developmental Biology

SN - 1084-9521

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