Mutation rate of ribosomal DNA copy number in Neurospora crassa

Ribosomaalinen DNA (rDNA) koodaa rRNA:ta, joka on ribosomien tärkeä rakenneosa. Eukaryooteilla rDNA esiintyy lukuisien identtisten toistojaksojen sarjoina. rDNA:n toistojaksojen tiedetään olevan yksi genomin epävakaimmista alueista, ja niissä esiintyy paljon kopiolukumäärän vaihtelua. Vaikka vaih...

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Main Author: Lehtonen, Suvi-Maaria
Other Authors: Matemaattis-luonnontieteellinen tiedekunta, Faculty of Sciences, Bio- ja ympäristötieteiden laitos, Department of Biological and Environmental Science, Jyväskylän yliopisto, University of Jyväskylä
Format: Master's thesis
Language:eng
Published: 2023
Subjects:
Online Access: https://jyx.jyu.fi/handle/123456789/88325
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author Lehtonen, Suvi-Maaria
author2 Matemaattis-luonnontieteellinen tiedekunta Faculty of Sciences Bio- ja ympäristötieteiden laitos Department of Biological and Environmental Science Jyväskylän yliopisto University of Jyväskylä
author_facet Lehtonen, Suvi-Maaria Matemaattis-luonnontieteellinen tiedekunta Faculty of Sciences Bio- ja ympäristötieteiden laitos Department of Biological and Environmental Science Jyväskylän yliopisto University of Jyväskylä Lehtonen, Suvi-Maaria Matemaattis-luonnontieteellinen tiedekunta Faculty of Sciences Bio- ja ympäristötieteiden laitos Department of Biological and Environmental Science Jyväskylän yliopisto University of Jyväskylä
author_sort Lehtonen, Suvi-Maaria
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description Ribosomaalinen DNA (rDNA) koodaa rRNA:ta, joka on ribosomien tärkeä rakenneosa. Eukaryooteilla rDNA esiintyy lukuisien identtisten toistojaksojen sarjoina. rDNA:n toistojaksojen tiedetään olevan yksi genomin epävakaimmista alueista, ja niissä esiintyy paljon kopiolukumäärän vaihtelua. Vaikka vaihtelun mekanismeista on tehty tutkimusta, syitä runsaalle kopiomäärälle ja sen muutosalttiudelle ei täysin tunneta, On esitetty, että se saattaa mahdollistaa lokuksen pienenemisen tai laajenemisen myötä paremman adaptaation muuttuviin olosuhteisiin. Tässä työssä tutkittiin Neurospora crassa -sienen rDNA:n kopiolukumäärän spontaania mutaatiovauhtia mutaatioakkumulaatiokokeen avulla ja estimoitiin valinnan vaikutusta mutaatiovauhtiin. Tutkimuksessa käytettiin mutaatioakkumulaatiokantoja ja luonnonkantoja. rDNA:n kopiolukumäärä analysoitiin droplet digital PCR-menetelmällä. rDNA-mutaatioita havaittiin useissa linjoissa, ja mutaatiovauhdiksi saatiin 18S rDNA:lle 1.10 [0.64, 1.72] x 10-5 ja 26S rDNA:lle 1.30 [0.09, 1.95] x 10-5 mutaatiota / mitoosi, mikä on melko korkea mutaatiovauhti. Deleetioita tapahtui huomattavasti enemmän kuin insertioita, mikä viittaa siihen, että mutaatiopaine pienentää rDNA:n kopiolukumäärää silloin kun muut mekanismit eivät vaikuta siihen. Koska mutaatioita tapahtui melko vähän, mutaatiomallia ei pystytty muodostamaan. Ribosomal DNA (rDNA) encodes ribosomal RNA, which is an essential structure of ribosomes. In eukaryotes rDNA loci contain multiple identical tandem repeat sequences and are susceptible to copy number variation (CNV). Although the mechanisms of copy number increase and decrease have been studied, the reasons underlying CNV are not yet completely understood. It has been suggested that environmental factors may change the copy number, and therefore it may be one of the mechanisms that helps the organism to adapt to changes in the environment. In this study, spontaneous mutation rate of 18S and 26S rDNA copy number of Neurospora crassa was studied using droplet digital PCR. N. crassa lines from a mutation accumulation experiment and from natural populations were used. The mutation accumulation lines had been cultured for 40 generations in a way that minimized the effect of selection. Mutation rate was estimated by comparing rDNA copy numbers between ancestors and different generations. This information was then used to estimate how selection affects mutation rate. The mutation rate in 18S rDNA was 1.10 [0.64, 1.72] x 10-5 and in 26S rDNA 1.30 [0.09, 1.95] x 10-5 mutations per mitosis, which is a relatively high mutation rate. There were significantly more deletions than insertions, suggesting that mutation pressure reduces rDNA copy number when other mechanisms are not involved. However, there were not enough mutations to form a mutation model.
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spellingShingle Lehtonen, Suvi-Maaria Mutation rate of ribosomal DNA copy number in Neurospora crassa copy number variation effective population size mutation accumulation mutation rate rDNA Solu- ja molekyylibiologia Cell and molecular biology 4013 mutaatiot DNA geenit solubiologia geneettinen muuntelu populaatiogenetiikka mutations genes cell biology genetic variation population genetics
title Mutation rate of ribosomal DNA copy number in Neurospora crassa
title_full Mutation rate of ribosomal DNA copy number in Neurospora crassa
title_fullStr Mutation rate of ribosomal DNA copy number in Neurospora crassa Mutation rate of ribosomal DNA copy number in Neurospora crassa
title_full_unstemmed Mutation rate of ribosomal DNA copy number in Neurospora crassa Mutation rate of ribosomal DNA copy number in Neurospora crassa
title_short Mutation rate of ribosomal DNA copy number in Neurospora crassa
title_sort mutation rate of ribosomal dna copy number in neurospora crassa
title_txtP Mutation rate of ribosomal DNA copy number in Neurospora crassa
topic copy number variation effective population size mutation accumulation mutation rate rDNA Solu- ja molekyylibiologia Cell and molecular biology 4013 mutaatiot DNA geenit solubiologia geneettinen muuntelu populaatiogenetiikka mutations genes cell biology genetic variation population genetics
topic_facet 4013 Cell and molecular biology DNA Solu- ja molekyylibiologia cell biology copy number variation effective population size geenit geneettinen muuntelu genes genetic variation mutaatiot mutation accumulation mutation rate mutations populaatiogenetiikka population genetics rDNA solubiologia
url https://jyx.jyu.fi/handle/123456789/88325 http://www.urn.fi/URN:NBN:fi:jyu-202307104452
work_keys_str_mv AT lehtonensuvimaaria mutationrateofribosomaldnacopynumberinneurosporacrassa