Disease-Causing Mutations and Rearrangements in Long Non-coding RNA Gene Loci

Aznaourova, Marina; Schmerer, Nils; Schmeck, Bernd; Schulte, Leon N.

doi:10.3389/fgene.2020.527484

Cited by 54 publications

(57 citation statements)

References 227 publications

(316 reference statements)

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“…lncRNAs are a novel class of functional RNA; the landscape of their mutations and variations is small as compared with other ncRNAs, not to mention mRNAs. However, the variability of lncRNA-encoding genes in the pathogenesis of human diseases, especially in cancer, is emerging (reviewed in the work of [101]), but we have not found any association of lncRNA we described in this review with AMD. On the other hand, AMD is reported to associate with mutations in hundreds of genes, often in the form of polymorphisms, which should be considered in experimental studies and projection of therapeutic interventions (reviewed in the work of [102]).…”

Section: Discussionmentioning

confidence: 57%

Potential of Long Non-Coding RNAs in Age-Related Macular Degeneration

Błasiak

Hyttinen

Szczepańska

et al. 2021

IJMS

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Age-related macular degeneration (AMD) is the leading cause of visual impairment in the aging population with poorly known pathogenesis and lack of effective treatment. Age and family history are the strongest AMD risk factors, and several loci were identified to contribute to AMD. Recently, also the epigenetic profile was associated with AMD, and some long non-coding RNAs (lncRNAs) were shown to involve in AMD pathogenesis. The Vax2os1/2 (ventral anterior homeobox 2 opposite strand isoform 1) lncRNAs may modulate the balance between pro- and anti-angiogenic factors in the eye contributing to wet AMD. The stress-induced dedifferentiation of retinal pigment epithelium cells can be inhibited by the ZNF503-AS1 (zinc finger protein 503 antisense RNA 2) and LINC00167 lncRNAs. Overexpression of the PWRN2 (Prader-Willi region non-protein-coding RNA 2) lncRNA aggravated RPE cells apoptosis and mitochondrial impairment induced by oxidative stress. Several other lncRNAs were reported to exert protective or detrimental effects in AMD. However, many studies are limited to an association between lncRNA and AMD in patients or model systems with bioinformatics. Therefore, further works on lncRNAs in AMD are rational, and they should be enriched with mechanistic and clinical studies to validate conclusions obtained in high-throughput in vitro research.

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Section: Discussionmentioning

confidence: 57%

Potential of Long Non-Coding RNAs in Age-Related Macular Degeneration

Błasiak

Hyttinen

Szczepańska

et al. 2021

IJMS

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“…Presence of distinct sequence motifs in combination with a particular secondary structure facilitates binding of splicing factors and other RBPs enabling the lncRNA-protein functional interplay [161,196,197]. Cancer-risk variations that occur in these motifs may disturb this interaction, leading to deviant molecular signaling pathways and finally to malignant transformation [198]. An intriguing example is rs6983267 SNP (G/T) that resides in the lncRNA locus CCAT2 (Colon Cancer Associated Transcript 2) and is correlated with colon cancer metabolism (enhanced glutaminolysis) and cell proliferation.…”

Section: Non-coding Variants Affecting Lncrna Functionmentioning

confidence: 99%

Non-Coding Variants in Cancer: Mechanistic Insights and Clinical Potential for Personalized Medicine

Lange

Begolli

Giakountis

2021

ncRNA

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The cancer genome is characterized by extensive variability, in the form of Single Nucleotide Polymorphisms (SNPs) or structural variations such as Copy Number Alterations (CNAs) across wider genomic areas. At the molecular level, most SNPs and/or CNAs reside in non-coding sequences, ultimately affecting the regulation of oncogenes and/or tumor-suppressors in a cancer-specific manner. Notably, inherited non-coding variants can predispose for cancer decades prior to disease onset. Furthermore, accumulation of additional non-coding driver mutations during progression of the disease, gives rise to genomic instability, acting as the driving force of neoplastic development and malignant evolution. Therefore, detection and characterization of such mutations can improve risk assessment for healthy carriers and expand the diagnostic and therapeutic toolbox for the patient. This review focuses on functional variants that reside in transcribed or not transcribed non-coding regions of the cancer genome and presents a collection of appropriate state-of-the-art methodologies to study them.

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“…Mutations and genomic rearrangements can affect the expression of lncRNA in the same way as they affect the protein-coding genes and can contribute to tumorigenesis. Aznaourova et al, have summarized a list of lncRNAs involved in various human diseases, including gynecological cancers [65]. Regulation of tumor progression by lncRNA can occur through modification of several mechanisms: the epigenetic regulation of genes Mutations and genomic rearrangements can affect the expression of lncRNA in the same way as they affect the protein-coding genes and can contribute to tumorigenesis.…”

Section: Long Non-coding Rnas: Classification and Mechanisms Of Actionmentioning

confidence: 99%

(In)Distinctive Role of Long Non-Coding RNAs in Common and Rare Ovarian Cancers

Sabol

Calleja‐Agius

Fiore

et al. 2021

Cancers

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Rare ovarian cancers (ROCs) are OCs with an annual incidence of fewer than 6 cases per 100,000 women. They affect women of all ages, but due to their low incidence and the potential clinical inexperience in management, there can be a delay in diagnosis, leading to a poor prognosis. The underlying causes for these tumors are varied, but generally, the tumors arise due to alterations in gene/protein expression in cellular processes that regulate normal proliferation and its checkpoints. Dysregulation of the cellular processes that lead to cancer includes gene mutations, epimutations, non-coding RNA (ncRNA) regulation, posttranscriptional and posttranslational modifications. Long non-coding RNA (lncRNA) are defined as transcribed RNA molecules, more than 200 nucleotides in length which are not translated into proteins. They regulate gene expression through several mechanisms and therefore add another level of complexity to the regulatory mechanisms affecting tumor development. Since few studies have been performed on ROCs, in this review we summarize the mechanisms of action of lncRNA in OC, with an emphasis on ROCs.

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Disease-Causing Mutations and Rearrangements in Long Non-coding RNA Gene Loci

Cited by 54 publications

References 227 publications

Potential of Long Non-Coding RNAs in Age-Related Macular Degeneration

Potential of Long Non-Coding RNAs in Age-Related Macular Degeneration

Non-Coding Variants in Cancer: Mechanistic Insights and Clinical Potential for Personalized Medicine

(In)Distinctive Role of Long Non-Coding RNAs in Common and Rare Ovarian Cancers

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