| dc.date.accessioned |
2023-03-06T07:11:08Z |
|
| dc.date.available |
2023-03-06T07:11:08Z |
|
| dc.date.issued |
2023-03-06 |
|
| dc.identifier.uri |
http://hdl.handle.net/123456789/44862 |
|
| dc.title |
Bioinformatic Methods for Identification of de novo TSM Mutations and Analysis of Ribosomal RNA Gene Variation |
en |
| ethesis.faculty |
Bio- ja ympäristötieteellinen tiedekunta |
fi |
| ethesis.faculty |
Faculty of Biological and Environmental Sciences |
en |
| ethesis.faculty |
Bio- och miljövetenskapliga fakulteten |
sv |
| ethesis.faculty.URI |
http://data.hulib.helsinki.fi/id/4d959249-d6aa-44fa-93ff-807dbf9ffaae |
|
| ethesis.university.URI |
http://data.hulib.helsinki.fi/id/50ae46d8-7ba9-4821-877c-c994c78b0d97 |
|
| ethesis.university |
Helsingin yliopisto |
fi |
| ethesis.university |
University of Helsinki |
en |
| ethesis.university |
Helsingfors universitet |
sv |
| dct.creator |
Dong, Junru |
|
| dct.issued |
2022 |
|
| dct.abstract |
Formation of template switching mutation has previously been proposed as a mechanism of RNA evolution. TSM mechanism may contribute to the creation, maintenance, and modification of the RNA Hairpin. The finding of de novo TSM in RNA sequences will provide evidence for this hypothesis. Ribosomal RNAs (rRNAs) appear in multicopy clusters on different chromosomes and evolve through concerted evolution. To study the properties of de novo TSM and the dynamics of the concerted evolution of rRNA, we developed a computational tool to analyze pairwise differences and the phylogenetic relationship of rRNA genes on different chromosomes. The genome assemblies that are based on traditional short-read sequencing methods have limitations on studying long tandem repeat rDNA, because the reading length is shorter than on the rRNA gene. To overcome this limitation. PacBio Hifi long-read sequencing data for human rRNA 18S and 28S genes were studied. By analyzing the diversity of rRNA genes between individuals and families, single nucleotide mutations, multiple nucleotide insertions, and deletions were identified. As expected, genetic variations in ribosomal genes were detected both within and between individuals. A larger sample size may be required for TSM identification. The finding of this research that related to the dynamics and concerted evolution of human rRNA may contribute to a better understanding of rRNA mutation-related genetic disorders. |
en |
| dct.subject |
Ribosomal RNA |
|
| dct.subject |
Template Switching Mutations |
|
| dct.subject |
Python Pipeline |
|
| ethesis.language.URI |
http://data.hulib.helsinki.fi/id/languages/eng |
|
| ethesis.language |
englanti |
fi |
| ethesis.language |
English |
en |
| ethesis.language |
engelska |
sv |
| ethesis.supervisor |
Dr. Heli A.M. Mönttinen and Dr. Ari Löytynoja |
und |
| ethesis.thesistype |
pro gradu -tutkielmat |
fi |
| ethesis.thesistype |
master's thesis |
en |
| ethesis.thesistype |
pro gradu-avhandlingar |
sv |
| ethesis.thesistype.URI |
http://data.hulib.helsinki.fi/id/thesistypes/mastersthesis |
|
| dct.identifier.ethesis |
E-thesisID:6793dc4b-804b-4f77-b05e-b0544065bd34 |
|
| ethesis-internal.timestamp.reviewStep |
2022-12-27 06:44:51:130 |
|
| ethesis.principalprofessor |
Pia Siljander |
und |
| dct.identifier.urn |
URN:NBN:fi:hulib-202303061443 |
|
| ethesis.facultystudyline |
Molecular and Analytical Health Biosciences |
fi |
| ethesis.facultystudyline |
Molecular and Analytical Health Biosciences |
en |
| ethesis.facultystudyline |
Molecular and Analytical Health Biosciences |
sv |
| ethesis.facultystudyline.URI |
http://data.hulib.helsinki.fi/id/SH57_133 |
|
| ethesis.mastersdegreeprogram |
Genetiikan ja molekulaaristen biotieteiden maisteriohjelma |
fi |
| ethesis.mastersdegreeprogram |
Master's Programme in Genetics and Molecular Biosciences |
en |
| ethesis.mastersdegreeprogram |
Magisterprogrammet i genetik och molekylära biovetenskaper |
sv |
| ethesis.mastersdegreeprogram.URI |
http://data.hulib.helsinki.fi/id/MH57_003 |
|
