The impact of Transposable Elements in Hematological Malignances

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F20%3A00073420" target="_blank" >RIV/65269705:_____/20:00073420 - isvavai.cz</a>

Result on the web

<a href="https://www.ceitec.eu/abstract-book-final-docx-pdf/f36324" target="_blank" >https://www.ceitec.eu/abstract-book-final-docx-pdf/f36324</a>

DOI - Digital Object Identifier

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Result language

angličtina

Original language name

The impact of Transposable Elements in Hematological Malignances

Original language description

Transposable elements, or transposons, are mobile genetic units that exhibit a broad diversity in their structure and transposition mechanisms. In the human genome, the vast majority of transposons is represented by retroelements (REs); they have a wide spectrum of functions, including gene expression deregulation via inserting their own copies within genes or gene proximity. The Long Interspersed Nucleic Elements (LINE-1 or L1) are the only active autonomous REs. They mobilize their own RNA to new genomic locations via a &quot;copy-and-paste&quot; mechanism and are able to retrotranspose other RE RNAs including Alu and SVA, and occasionally protein-coding RNAs. RE activity is mostly silenced by various control mechanisms, however, transposon reactivation has been implied in several medical conditions, including many cancer types (e.g. colorectal cancer, hepatocarcinoma, epithelial cancers). To our best knowledge, no systematic analysis employing sensitive high-throughput techniques has been performed to date to study RE activity in hematological malignancies. Thus, we decided to explore RE activity in different types of hematological malignancies through detection of new RE insertions in primary patient samples. To identify tumor-specific RE insertions, we adopted a protocol based on highthroughput sequencing of amplicons containing a part of RE (i.e. belonging to AluYa5, Alu-Yb8 or L1-HS families), and its adjacent genomic region. Using the unique molecular identifiers enabled calculation of a number of cells bearing each particular RE insertion. We performed a pilot experiment for a set of 36 samples from hematooncological patients, containing pretreatment tumor-normal pairs and follow-up tumor samples after anti-cancer therapy. The libraries were sequenced and analysed using the in-house bioinformatics pipeline for the identification of somatic RE insertions. A result of the analysis for the L1-HS family is 2 candidate insertions (one in a MDS and another in a CLL sample). We are going to further study these insertions in detail.

Czech name

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Czech description

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Type

O - Miscellaneous

CEP classification

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OECD FORD branch

30205 - Hematology

Project

<a href="/en/project/GA19-11299S" target="_blank" >GA19-11299S: The role of transposable element activity in hematological malignacies</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2020

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů