Evolutionary History of Alpha Satellite DNA Repeats Dispersed within Human Genome Euchromatin
© The Author(s) 2020. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution..
Major human alpha satellite DNA repeats are preferentially assembled within (peri)centromeric regions but are also dispersed within euchromatin in the form of clustered or short single repeat arrays. To study the evolutionary history of single euchromatic human alpha satellite repeats (ARs), we analyzed their orthologous loci across the primate genomes. The continuous insertion of euchromatic ARs throughout the evolutionary history of primates starting with the ancestors of Simiformes (45-60 Ma) and continuing up to the ancestors of Homo is revealed. Once inserted, the euchromatic ARs were stably transmitted to the descendant species, some exhibiting copy number variation, whereas their sequence divergence followed the species phylogeny. Many euchromatic ARs have sequence characteristics of (peri)centromeric alpha repeats suggesting heterochromatin as a source of dispersed euchromatic ARs. The majority of euchromatic ARs are inserted in the vicinity of other repetitive elements such as L1, Alu, and ERV or are embedded within them. Irrespective of the insertion context, each AR insertion seems to be unique and once inserted, ARs do not seem to be subsequently spread to new genomic locations. In spite of association with (retro)transposable elements, there is no indication that such elements play a role in ARs proliferation. The presence of short duplications at most of ARs insertion sites suggests site-directed recombination between homologous motifs in ARs and in the target genomic sequence, probably mediated by extrachromosomal circular DNA, as a mechanism of spreading within euchromatin.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2020 |
|---|---|
| Erschienen: |
2020 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:12 |
|---|---|
| Enthalten in: |
Genome biology and evolution - 12(2020), 11 vom: 03. Nov., Seite 2125-2138 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Feliciello, Isidoro [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
DNA, Satellite |
|---|
| Anmerkungen: |
Date Completed 09.09.2021 Date Revised 09.09.2021 published: Print Citation Status MEDLINE |
|---|
| doi: |
10.1093/gbe/evaa224 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM316475068 |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM316475068 | ||
| 003 | DE-627 | ||
| 005 | 20231225161148.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231225s2020 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1093/gbe/evaa224 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1054.xml |
| 035 | |a (DE-627)NLM316475068 | ||
| 035 | |a (NLM)33078196 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Feliciello, Isidoro |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Evolutionary History of Alpha Satellite DNA Repeats Dispersed within Human Genome Euchromatin |
| 264 | 1 | |c 2020 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 09.09.2021 | ||
| 500 | |a Date Revised 09.09.2021 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a © The Author(s) 2020. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. | ||
| 520 | |a Major human alpha satellite DNA repeats are preferentially assembled within (peri)centromeric regions but are also dispersed within euchromatin in the form of clustered or short single repeat arrays. To study the evolutionary history of single euchromatic human alpha satellite repeats (ARs), we analyzed their orthologous loci across the primate genomes. The continuous insertion of euchromatic ARs throughout the evolutionary history of primates starting with the ancestors of Simiformes (45-60 Ma) and continuing up to the ancestors of Homo is revealed. Once inserted, the euchromatic ARs were stably transmitted to the descendant species, some exhibiting copy number variation, whereas their sequence divergence followed the species phylogeny. Many euchromatic ARs have sequence characteristics of (peri)centromeric alpha repeats suggesting heterochromatin as a source of dispersed euchromatic ARs. The majority of euchromatic ARs are inserted in the vicinity of other repetitive elements such as L1, Alu, and ERV or are embedded within them. Irrespective of the insertion context, each AR insertion seems to be unique and once inserted, ARs do not seem to be subsequently spread to new genomic locations. In spite of association with (retro)transposable elements, there is no indication that such elements play a role in ARs proliferation. The presence of short duplications at most of ARs insertion sites suggests site-directed recombination between homologous motifs in ARs and in the target genomic sequence, probably mediated by extrachromosomal circular DNA, as a mechanism of spreading within euchromatin | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 4 | |a euchromatin | |
| 650 | 4 | |a evolution | |
| 650 | 4 | |a heterochromatin | |
| 650 | 4 | |a primates | |
| 650 | 4 | |a proliferation | |
| 650 | 4 | |a satellite DNA | |
| 650 | 7 | |a DNA, Satellite |2 NLM | |
| 650 | 7 | |a Euchromatin |2 NLM | |
| 700 | 1 | |a Pezer, Željka |e verfasserin |4 aut | |
| 700 | 1 | |a Kordiš, Dušan |e verfasserin |4 aut | |
| 700 | 1 | |a Bruvo Mađarić, Branka |e verfasserin |4 aut | |
| 700 | 1 | |a Ugarković, Đurđica |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Genome biology and evolution |d 2009 |g 12(2020), 11 vom: 03. Nov., Seite 2125-2138 |w (DE-627)NLM196789001 |x 1759-6653 |7 nnns |
| 773 | 1 | 8 | |g volume:12 |g year:2020 |g number:11 |g day:03 |g month:11 |g pages:2125-2138 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1093/gbe/evaa224 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 12 |j 2020 |e 11 |b 03 |c 11 |h 2125-2138 | ||