Chromosome-specific epigenetic control and transmission of ribosomal DNA arrays in Hominidae genomes

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14330%2F25%3A00143851" target="_blank" >RIV/00216224:14330/25:00143851 - isvavai.cz</a>

Result on the web

<a href="https://doi.org/10.1016/j.xgen.2025.101031" target="_blank" >https://doi.org/10.1016/j.xgen.2025.101031</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.xgen.2025.101031" target="_blank" >10.1016/j.xgen.2025.101031</a>

Result language

angličtina

Original language name

Chromosome-specific epigenetic control and transmission of ribosomal DNA arrays in Hominidae genomes

Original language description

Ribosomal RNA (rRNA) genes are organized in tandem arrays known as ribosomal DNA (rDNA) on multiple chromosomes in Hominidae genomes. We measured copy number and transcriptional activity status of rRNA gene arrays across multiple individual genomes, revealing an identifiable fingerprint of rDNA copy number and activity. In some cases, entire arrays were transcriptionally silent, characterized by high DNA methylation across the rRNA gene, inaccessible chromatin, and the absence of transcription factors and transcripts. Silent arrays showed reduced association with the nucleolus and decreased interchromosomal interactions, consistent with the model that nucleolar organizer function depends on transcriptional activity. Removing rDNA methylation activated silent arrays. Array activity status remained stable through induced pluripotent stem cell reprogramming and differentiation into cerebral and intestinal organoids. Haplotype tracing in two unrelated family trios showed paternal transmission of silent arrays. We propose that the epigenetic state buffers rRNA gene dosage, specifies nucleolar organizer function, and can propagate transgenerationally.

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

10603 - Genetics and heredity (medical genetics to be 3)

Project

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Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2025

Confidentiality

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

Name of the periodical

CELL GENOMICS

ISSN

2666-979X

e-ISSN

—

Volume of the periodical

5

Issue of the periodical within the volume

12

Country of publishing house

NL - THE KINGDOM OF THE NETHERLANDS

Number of pages

24

Pages from-to

1-24

UT code for WoS article

001641070900004

EID of the result in the Scopus database

2-s2.0-105024203770