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Series GSE60196 Query DataSets for GSE60196
Status Public on Aug 08, 2014
Title human 3' RACE
Organism Homo sapiens
Experiment type Expression profiling by high throughput sequencing
Summary Mpn1 proteins are evolutionarily conserved exonucleases that modify spliceosomal U6 small nuclear RNAs (snRNAs) post-transcriptionally. Mutations in the human MPN1 gene are associated to the genodermatosis Clericuzio-type poikiloderma with neutropenia (PN). Mpn1 deficiency leads to aberrant U6 3’ end processing and accelerated U6 decay through unknown molecular mechanisms. Here we show that in mpn1Δ fission yeast cells U6 is barely bound by the protective Lsm2-8 complex, undergoes extensive oligoadenylation and is degraded by the nuclear RNA exonuclease Rrp6 independently of the poly(A) polymerase Cid14/Trf4. Mpn1 processes U6 in a spliceosome-dependent manner, as mutant U6 molecules that fail to join the spliceosome are not substrates for Mpn1. Moreover, human U6atac, the U6-like snRNA of the minor spliceosome, is a novel substrate for hMpn1. We unveil mechanistic details of a new U6 degradation pathway and further corroborate the notion that inefficient canonical and minor pre-mRNA splicing promotes PN.
Overall design the 3' termini of human U6, U6atac and vtRNA1-1 transcripts from PN patient derived cells and from PN patient cells, compensated with hMPN1 were sequenced.
Contributor(s) Shchepachev V, Soneson C
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Submission date Aug 07, 2014
Last update date May 15, 2019
Contact name Claus M Azzalin
Organization name ETH Zürich
Department Institute of Biochemistry
Street address Otto-Stern-Weg 3
City Zürich
ZIP/Postal code 8093
Country Switzerland
Platforms (1)
GPL16791 Illumina HiSeq 2500 (Homo sapiens)
Samples (6)
GSM1467489 PNFF-ev U6atac
GSM1467490 PNFF-hMPN1 U6atac
GSM1467491 PNFF-ev U6
This SubSeries is part of SuperSeries:
GSE60198 The Mpn1 exonuclease defines a novel spliceosomal snRNA decay pathway dependent on Rrp6 and Lsm2-8 complex
BioProject PRJNA257730
SRA SRP045329

Download family Format
SOFT formatted family file(s) SOFTHelp
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Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE60196_RAW.tar 60.0 Kb (http)(custom) TAR (of TXT)
SRA Run SelectorHelp
Raw data are available in SRA
Processed data provided as supplementary file

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