Pathological mechanism and antisense oligonucleotide-mediated rescue of a non-coding variant suppressing factor 9 RNA biogenesis leading to hemophilia B.

doi:10.1371/journal.pgen.1008690

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Article

Pathological mechanism and antisense oligonucleotide-mediated rescue of a non-coding variant suppressing factor 9 RNA biogenesis leading to hemophilia B.

PLoS genetics - 1 Apr 2020

Krooss Simon, Werwitzke Sonja, Kopp Johannes, Rovai Alice, Varnholt Dirk, Wachs Amelie S, Goyenvalle Aurelie, Aarstma-Rus Annemieke, Ott Michael, Tiede Andreas, Langemeier Jörg, Bohne Jens

Abstract excerpt

Loss-of-function mutations in the human coagulation factor 9 (F9) gene lead to hemophilia B. Here, we dissected the consequences and the pathomechanism of a non-coding mutation (c.2545A>G) in the F9 3' untranslated region. Using wild type and mutant factor IX (FIX) minigenes we revealed that the mutation leads to reduced F9 mRNA and FIX protein levels and to lower coagulation activity of cell culture...

Topics

3' Untranslated Regions
Animals
CHO Cells
Cricetinae
Cricetulus
Factor IX
HEK293 Cells
HeLa Cells
Hemophilia B
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Loss of Function Mutation

Oligonucleotides, Antisense

Phenotype

RNA, Messenger

RNA, Small Nuclear

Suppression, Genetic

Source

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Identifiers

PMID: 32267853
DOI: 10.1371/journal.pgen.1008690
PMCID: PMC7141619

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