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Določanje izražanja transpozicijskih elementov iz podatkov sekvenciranja RNK
ID Rob, Mojca (Author), ID Jenko Bizjan, Barbara (Mentor) More about this mentor... This link opens in a new window

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Abstract
Transpozicijski elementi (TE) sestavljajo približno polovico človeškega genoma in lahko vplivajo na izražanje genov, dostopnost kromatina, aktivirajo lahko poti celičnega signaliziranja, odzive preko RNK interference, sprožijo staranje in protivirusne aktivnosti. Njihovo preučevanje je zahtevno zaradi velike raznolikosti zaporedij, lokusov in števila kopij v genomu. V delu smo iz podatkov sekvenciranja RNK izvedli analizo diferencialnega izražanja TE pri otrocih s COVID-19 povezanimi inflamatornimi boleznimi v času aktivne bolezni pred zdravljenjem in 6 mesecev po predstavitvi bolezni oz. ob remisiji. Vzorec odvzet v remisiji je služil kot kontrolni vzorec. Izvedli smo analizo diferencialnega izražanja TE z bioinformacijskim orodjem TEtranscripts in uporabo referenčnih genomov GRCh38 in T2T-CHM13. Rezultati analize so pokazali 681 statistično značilno diferencialno izraženih TE ob uporabi GRCh38 in 738 ob uporabi T2T-CHM13, pri čemer so bili ob hkratnem upoštevanju kriterija |logFC| ≥ 2 diferencialno izraženi 3 TE ob uporabi GRCh38 in 2 ob uporabi T2T-CHM13. Vsi statistično značilno izraženi TE z |logFC| ≥ 2 so bolj izraženi v času aktivne bolezni kot pa v remisiji, kar potrjuje ugotovitev iz literature, da je povečana aktivnost TE značilna za inflamatorna stanja. Referenčni genom T2T-CHM13 kot prvi popoln človeški genom predstavlja boljšo referenco za določanje izražanja TE, zakaj točno pride do razlik z GRCh38, pa bi morali še natančneje proučiti.

Language:Slovenian
Keywords:genetika, bioinformatika, človek, transpozicijski elementi, analiza diferencialnega izražanja, sekvenciranje RNK, inflamatorne bolezni, referenčni genom, GRCh38, T2T-CHM13
Work type:Bachelor thesis/paper
Typology:2.11 - Undergraduate Thesis
Organization:BF - Biotechnical Faculty
Year:2025
PID:20.500.12556/RUL-171383 This link opens in a new window
COBISS.SI-ID:246460163 This link opens in a new window
Publication date in RUL:24.08.2025
Views:245
Downloads:38
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Secondary language

Language:English
Title:Determining transposable element expression from RNA sequencing data
Abstract:
Transposable elements (TEs) make up approximately half of the human genome and can affect gene expression, chromatin accessibility, activate cell signalling pathways, RNA interference responses as well as trigger ageing and antiviral activities. Their study is challenging due to the high diversity in terms of sequences, loci and copy number in the genome. In this work we used RNA sequencing data to analyse the differential expression of TEs in children with COVID-19-associated inflammatory diseases before treatment, during flare, and at time of disease remission, after 6 months. The sample taken at remission was considered as control sample. The analysis was performed using the TEtranscripts bioinformatics tool and the GRCh38 and T2T-CHM13 reference genomes. The results of differential expression analysis performed by the tool showed 681 statistically significant differentially expressed TEs using GRCh38 and 738 using T2T-CHM13, with three TEs expressed using GRCh38 and two using T2T-CHM13 when filtering for |logFC| ≥ 2. All significant transposable elements with expression |logFC| ≥ 2 are expressed more in flare of disease than in the remission state, confirming the finding in literature that increased TE activity is characteristic of inflammatory state. The T2T-CHM13 reference genome as the first complete human genome provides a better reference for determining TE expression, however, the exact reasons for the differences with GRCh38 should be further investigated.

Keywords:genetics, bioinformatics, human, transposable elements, differential expression analysis, RNA-seq, inflammatory diseases, reference genome, GRCh38, T2T-CHM13

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