Ribosomal DNA Instability as a Potential Cause of Karyotype Evolution

<jats:title>Abstract</jats:title> <jats:p>Karyotype refers to the configuration of the genome into a set of chromosomes. The karyotype difference between species is expected to impede various biological processes, such as chromosome segregation and meiotic chromosom...

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Main Authors: Li, Duojia, Gandhi, Dhyey, Kumon, Tomohiro, Yamashita, Yukiko M
Other Authors: Massachusetts Institute of Technology. Department of Biology
Format: Article
Language:English
Published: Oxford University Press (OUP) 2023
Online Access:https://hdl.handle.net/1721.1/147035
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author Li, Duojia
Gandhi, Dhyey
Kumon, Tomohiro
Yamashita, Yukiko M
author2 Massachusetts Institute of Technology. Department of Biology
author_facet Massachusetts Institute of Technology. Department of Biology
Li, Duojia
Gandhi, Dhyey
Kumon, Tomohiro
Yamashita, Yukiko M
author_sort Li, Duojia
collection MIT
description <jats:title>Abstract</jats:title> <jats:p>Karyotype refers to the configuration of the genome into a set of chromosomes. The karyotype difference between species is expected to impede various biological processes, such as chromosome segregation and meiotic chromosome pairing, potentially contributing to incompatibility. Karyotypes can rapidly change between closely related species and even among populations of the same species. However, the forces driving karyotype evolution are poorly understood. Here we describe a unique karyotype of a Drosophila melanogaster strain isolated from the Seychelles archipelago. This strain has lost the ribosomal DNA (rDNA) locus on the X chromosome. Because the Y chromosome is the only other rDNA-bearing chromosome, all females carry at least one Y chromosome as the source of rDNA. Interestingly, we found that the strain also carries a truncated Y chromosome (YS) that is stably maintained in the population despite its inability to support male fertility. Our modeling and cytological analysis suggest that the Y chromosome has a larger negative impact on female fitness than the YS chromosome. Moreover, we generated an independent strain that lacks X rDNA and has a karyotype of XXY females and XY males. This strain quickly evolved multiple karyotypes: two new truncated Y chromosomes (similar to YS), as well as two independent X chromosome fusions that contain the Y-derived rDNA fragment, eliminating females’ dependence on the Y chromosome. Considering that Robertsonian fusions frequently occur at rDNA loci in humans, we propose that rDNA loci instability may be one of driving forces of karyotype evolution.</jats:p>
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spelling mit-1721.1/1470352023-01-11T03:39:19Z Ribosomal DNA Instability as a Potential Cause of Karyotype Evolution Li, Duojia Gandhi, Dhyey Kumon, Tomohiro Yamashita, Yukiko M Massachusetts Institute of Technology. Department of Biology <jats:title>Abstract</jats:title> <jats:p>Karyotype refers to the configuration of the genome into a set of chromosomes. The karyotype difference between species is expected to impede various biological processes, such as chromosome segregation and meiotic chromosome pairing, potentially contributing to incompatibility. Karyotypes can rapidly change between closely related species and even among populations of the same species. However, the forces driving karyotype evolution are poorly understood. Here we describe a unique karyotype of a Drosophila melanogaster strain isolated from the Seychelles archipelago. This strain has lost the ribosomal DNA (rDNA) locus on the X chromosome. Because the Y chromosome is the only other rDNA-bearing chromosome, all females carry at least one Y chromosome as the source of rDNA. Interestingly, we found that the strain also carries a truncated Y chromosome (YS) that is stably maintained in the population despite its inability to support male fertility. Our modeling and cytological analysis suggest that the Y chromosome has a larger negative impact on female fitness than the YS chromosome. Moreover, we generated an independent strain that lacks X rDNA and has a karyotype of XXY females and XY males. This strain quickly evolved multiple karyotypes: two new truncated Y chromosomes (similar to YS), as well as two independent X chromosome fusions that contain the Y-derived rDNA fragment, eliminating females’ dependence on the Y chromosome. Considering that Robertsonian fusions frequently occur at rDNA loci in humans, we propose that rDNA loci instability may be one of driving forces of karyotype evolution.</jats:p> 2023-01-10T16:31:38Z 2023-01-10T16:31:38Z 2022-11-03 2023-01-10T14:47:34Z Article http://purl.org/eprint/type/JournalArticle https://hdl.handle.net/1721.1/147035 Li, Duojia, Gandhi, Dhyey, Kumon, Tomohiro and Yamashita, Yukiko M. 2022. "Ribosomal DNA Instability as a Potential Cause of Karyotype Evolution." Molecular Biology and Evolution, 39 (11). en 10.1093/molbev/msac221 Molecular Biology and Evolution Creative Commons Attribution 4.0 International license https://creativecommons.org/licenses/by/4.0/ application/pdf Oxford University Press (OUP) Oxford University Press
spellingShingle Li, Duojia
Gandhi, Dhyey
Kumon, Tomohiro
Yamashita, Yukiko M
Ribosomal DNA Instability as a Potential Cause of Karyotype Evolution
title Ribosomal DNA Instability as a Potential Cause of Karyotype Evolution
title_full Ribosomal DNA Instability as a Potential Cause of Karyotype Evolution
title_fullStr Ribosomal DNA Instability as a Potential Cause of Karyotype Evolution
title_full_unstemmed Ribosomal DNA Instability as a Potential Cause of Karyotype Evolution
title_short Ribosomal DNA Instability as a Potential Cause of Karyotype Evolution
title_sort ribosomal dna instability as a potential cause of karyotype evolution
url https://hdl.handle.net/1721.1/147035
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AT gandhidhyey ribosomaldnainstabilityasapotentialcauseofkaryotypeevolution
AT kumontomohiro ribosomaldnainstabilityasapotentialcauseofkaryotypeevolution
AT yamashitayukikom ribosomaldnainstabilityasapotentialcauseofkaryotypeevolution