Detail publikačního výsledku
Complete analysis of G-quadruplex forming sequences in the gapless assembly of human chromosome Y
DOBROVOLNÁ, M.; MERGNY, J-L.; BRÁZDA, V.
Originální název
Complete analysis of G-quadruplex forming sequences in the gapless assembly of human chromosome Y
Anglický název
Complete analysis of G-quadruplex forming sequences in the gapless assembly of human chromosome Y
Druh
Článek WoS
Originální abstrakt
Recent advancements have finally delivered a complete human genome assembly, including the elusive Y chromosome. This accomplishment closes a significant knowledge gap. Prior efforts were hampered by challenges in sequencing repetitive DNA structures such as direct and inverted repeats. We used the G4Hunter algorithm to analyze the presence of G-quadruplex forming sequences (G4s) within the current human reference genome (GRCh38) and the new telomere-to-telomere (T2T) Y chromosome assemblies. This analysis served a dual purpose: identifying the location of potential G4s within the genomes and exploring their association with functionally annotated sequences. Compared to GRCh38, the T2T assembly exhibited a significantly higher prevalence of G-quadruplex forming sequences. Notably, these repeats were abundantly located around precursor RNA, exons, genes, and within protein binding sites. This remarkable co-occurrence of G4-forming sequences with these critical regulatory regions suggests their role in fundamental DNA regulation processes. Our findings indicate that the current human reference genome significantly underestimated the number of G4s, potentially overlooking their functional importance. (c) 2024 Elsevier B.V. and Soci & eacute;t & eacute; Fran & ccedil;aise de Biochimie et Biologie Mol & eacute;culaire (SFBBM). All rights are reserved, including those for text and data mining, AI training, and similar technologies.
Anglický abstrakt
Recent advancements have finally delivered a complete human genome assembly, including the elusive Y chromosome. This accomplishment closes a significant knowledge gap. Prior efforts were hampered by challenges in sequencing repetitive DNA structures such as direct and inverted repeats. We used the G4Hunter algorithm to analyze the presence of G-quadruplex forming sequences (G4s) within the current human reference genome (GRCh38) and the new telomere-to-telomere (T2T) Y chromosome assemblies. This analysis served a dual purpose: identifying the location of potential G4s within the genomes and exploring their association with functionally annotated sequences. Compared to GRCh38, the T2T assembly exhibited a significantly higher prevalence of G-quadruplex forming sequences. Notably, these repeats were abundantly located around precursor RNA, exons, genes, and within protein binding sites. This remarkable co-occurrence of G4-forming sequences with these critical regulatory regions suggests their role in fundamental DNA regulation processes. Our findings indicate that the current human reference genome significantly underestimated the number of G4s, potentially overlooking their functional importance. (c) 2024 Elsevier B.V. and Soci & eacute;t & eacute; Fran & ccedil;aise de Biochimie et Biologie Mol & eacute;culaire (SFBBM). All rights are reserved, including those for text and data mining, AI training, and similar technologies.
Klíčová slova
Gapless assembly; Chromosome Y; G-quadruplex; Genome analysis
Klíčová slova v angličtině
Gapless assembly; Chromosome Y; G-quadruplex; Genome analysis
Autoři
DOBROVOLNÁ, M.; MERGNY, J-L.; BRÁZDA, V.
Rok RIV
2025
Vydáno
09.10.2024
Nakladatel
ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER
Místo
ISSY-LES-MOULINEAUX
ISSN
1638-6183
Periodikum
BIOCHIMIE
Svazek
229
Číslo
February
Stát
Francouzská republika
Strany od
49
Strany do
57
Strany počet
9
URL
BibTex
@article{BUT190101,
author="DOBROVOLNÁ, M. and MERGNY, J-L. and BRÁZDA, V.",
title="Complete analysis of G-quadruplex forming sequences in the gapless assembly of human chromosome Y",
journal="BIOCHIMIE",
year="2024",
volume="229",
number="February",
pages="49--57",
doi="10.1016/j.biochi.2024.10.007",
issn="0300-9084",
url="https://pubmed.ncbi.nlm.nih.gov/39389449/"
}