Complete analysis of G-quadruplex forming sequences in the gapless assembly of human chromosome Y

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216305%3A26310%2F24%3APU152547" target="_blank" >RIV/00216305:26310/24:PU152547 - isvavai.cz</a>

Result on the web

<a href="https://pubmed.ncbi.nlm.nih.gov/39389449/" target="_blank" >https://pubmed.ncbi.nlm.nih.gov/39389449/</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.biochi.2024.10.007" target="_blank" >10.1016/j.biochi.2024.10.007</a>

Result language

angličtina

Original language name

Complete analysis of G-quadruplex forming sequences in the gapless assembly of human chromosome Y

Original language description

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.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

10600 - Biological sciences

Project

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Continuities

S - Specificky vyzkum na vysokych skolach

Publication year

2024

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

BIOCHIMIE

ISSN

0300-9084

e-ISSN

1638-6183

Volume of the periodical

229

Issue of the periodical within the volume

February

Country of publishing house

FR - FRANCE

Number of pages

9

Pages from-to

49-57

UT code for WoS article

001414633200001

EID of the result in the Scopus database

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