Sökning: onr:"swepub:oai:DiVA.org:uu-438930" >
Transcriptome analy...
Transcriptome analysis of human patients with telomere biology disorders having mutations in PARN gene
-
- Gunja, Sethu Madhava Rao, 1986- (författare)
- Uppsala universitet,Institutionen för cell- och molekylärbiologi,Uppsala University,Anders Virtanen
-
- Liontos, Andreas (författare)
- Uppsala universitet,Institutionen för cell- och molekylärbiologi,Anders Virtanen
-
- Bertuch, Alison A (författare)
- Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas
-
visa fler...
-
- Dror, Yigal (författare)
- Division of Hematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada
-
- Virtanen, Anders (författare)
- Uppsala universitet,Institutionen för cell- och molekylärbiologi
-
visa färre...
-
(creator_code:org_t)
- Engelska.
- Relaterad länk:
-
https://urn.kb.se/re...
Abstract
Ämnesord
Stäng
- Poly(A)-specific ribonuclease (PARN) is a eukaryotic deadenylating enzyme that removes poly(A) tails of RNAs, including mRNAs and ncRNAs. Mutations in human PARN are associated with developmental delay and telomere biology disorders. We have previously described a group of human patients with mutations in PARN that presented heterogeneity in disease phenotypes. Here, we have characterized the transcriptome of these patients by investigating the differential gene expression to identify metabolic pathways that were affected in these patients. Patients with lesions in PARN were all affected in the same metabolic pathways: ribosome/translation, cell-cell adhesion and cell signaling pathways. This suggests that these pathways could be crucial for the development of a severe disease state and influence penetrance of the disease. We also identified major defects in snoRNAs, scaRNAs and miRNAs profiles. Interestingly a miRNA cluster miR-let7c/miR99a/miR-125b was affected in one patient. This miRNA cluster has anti-tumorigenic properties, suggesting that deficiency of PARN could result in the development of cancer. Overall, this study has identified metabolic pathways that are affected in PARN deficient patients. The identified pathways could play a role in development of TBDs.
Ämnesord
- NATURVETENSKAP -- Biologi -- Genetik (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences -- Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Cell- och molekylärbiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Cell and Molecular Biology (hsv//eng)
Nyckelord
- PARN
- snoRNAs
- scaRNAs
- miRNAs
- telomere biology disorders
- Medicinsk genetik
- Medical Genetics
- Biology with specialization in Molecular Biology
- Biologi med inriktning mot molekylärbiologi
Publikations- och innehållstyp
- vet (ämneskategori)
- ovr (ämneskategori)