Most human DNA replication initiation is dispersed throughout the genome with only a minority within previously identified initiation zones

Abstract Background The identification of sites of DNA replication initiation in mammalian cells has been challenging. Here, we present unbiased detection of replication initiation events in human cells using BrdU incorporation and single-molecule nanopore sequencing. Results Increases in BrdU incor...

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Main Authors: Jamie T. Carrington, Rosemary H. C. Wilson, Eduardo de La Vega, Sathish Thiyagarajan, Tom Barker, Leah Catchpole, Alex Durrant, Vanda Knitlhoffer, Chris Watkins, Karim Gharbi, Conrad A. Nieduszynski
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Language:English
Published: BMC 2025-05-01
Series:Genome Biology
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Online Access:https://doi.org/10.1186/s13059-025-03591-w
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author Jamie T. Carrington
Rosemary H. C. Wilson
Eduardo de La Vega
Sathish Thiyagarajan
Tom Barker
Leah Catchpole
Alex Durrant
Vanda Knitlhoffer
Chris Watkins
Karim Gharbi
Conrad A. Nieduszynski
author_facet Jamie T. Carrington
Rosemary H. C. Wilson
Eduardo de La Vega
Sathish Thiyagarajan
Tom Barker
Leah Catchpole
Alex Durrant
Vanda Knitlhoffer
Chris Watkins
Karim Gharbi
Conrad A. Nieduszynski
author_sort Jamie T. Carrington
collection DOAJ
description Abstract Background The identification of sites of DNA replication initiation in mammalian cells has been challenging. Here, we present unbiased detection of replication initiation events in human cells using BrdU incorporation and single-molecule nanopore sequencing. Results Increases in BrdU incorporation allow us to measure DNA replication dynamics, including identification of replication initiation, fork direction, and termination on individual nanopore sequencing reads. Importantly, initiation and termination events are identified on single molecules with high resolution, throughout S-phase, genome-wide, and at high coverage at specific loci using targeted enrichment. We find a significant enrichment of initiation sites within the broad initiation zones identified by population-level studies. However, these focused initiation sites only account for ~ 20% of all identified replication initiation events. Most initiation events are dispersed throughout the genome and are missed by cell population approaches. This indicates that most initiation occurs at sites that, individually, are rarely used. These dispersed initiation sites contrast with the focused sites identified by population studies, in that they do not show a strong relationship to transcription or a particular epigenetic signature. Conclusions We show here that single-molecule sequencing enables unbiased detection and characterization of DNA replication initiation events, including the numerous dispersed initiation events that replicate most of the human genome.
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spelling doaj-art-b6d3f2fca73f41c1bf8695a41000a2a42025-08-20T03:53:12ZengBMCGenome Biology1474-760X2025-05-0126113010.1186/s13059-025-03591-wMost human DNA replication initiation is dispersed throughout the genome with only a minority within previously identified initiation zonesJamie T. Carrington0Rosemary H. C. Wilson1Eduardo de La Vega2Sathish Thiyagarajan3Tom Barker4Leah Catchpole5Alex Durrant6Vanda Knitlhoffer7Chris Watkins8Karim Gharbi9Conrad A. Nieduszynski10University of OxfordUniversity of OxfordEarlham InstituteEarlham InstituteEarlham InstituteEarlham InstituteEarlham InstituteEarlham InstituteEarlham InstituteEarlham InstituteEarlham InstituteAbstract Background The identification of sites of DNA replication initiation in mammalian cells has been challenging. Here, we present unbiased detection of replication initiation events in human cells using BrdU incorporation and single-molecule nanopore sequencing. Results Increases in BrdU incorporation allow us to measure DNA replication dynamics, including identification of replication initiation, fork direction, and termination on individual nanopore sequencing reads. Importantly, initiation and termination events are identified on single molecules with high resolution, throughout S-phase, genome-wide, and at high coverage at specific loci using targeted enrichment. We find a significant enrichment of initiation sites within the broad initiation zones identified by population-level studies. However, these focused initiation sites only account for ~ 20% of all identified replication initiation events. Most initiation events are dispersed throughout the genome and are missed by cell population approaches. This indicates that most initiation occurs at sites that, individually, are rarely used. These dispersed initiation sites contrast with the focused sites identified by population studies, in that they do not show a strong relationship to transcription or a particular epigenetic signature. Conclusions We show here that single-molecule sequencing enables unbiased detection and characterization of DNA replication initiation events, including the numerous dispersed initiation events that replicate most of the human genome.https://doi.org/10.1186/s13059-025-03591-wReplication originOrigin mappingDNAscentUltra-longnCATS
spellingShingle Jamie T. Carrington
Rosemary H. C. Wilson
Eduardo de La Vega
Sathish Thiyagarajan
Tom Barker
Leah Catchpole
Alex Durrant
Vanda Knitlhoffer
Chris Watkins
Karim Gharbi
Conrad A. Nieduszynski
Most human DNA replication initiation is dispersed throughout the genome with only a minority within previously identified initiation zones
Genome Biology
Replication origin
Origin mapping
DNAscent
Ultra-long
nCATS
title Most human DNA replication initiation is dispersed throughout the genome with only a minority within previously identified initiation zones
title_full Most human DNA replication initiation is dispersed throughout the genome with only a minority within previously identified initiation zones
title_fullStr Most human DNA replication initiation is dispersed throughout the genome with only a minority within previously identified initiation zones
title_full_unstemmed Most human DNA replication initiation is dispersed throughout the genome with only a minority within previously identified initiation zones
title_short Most human DNA replication initiation is dispersed throughout the genome with only a minority within previously identified initiation zones
title_sort most human dna replication initiation is dispersed throughout the genome with only a minority within previously identified initiation zones
topic Replication origin
Origin mapping
DNAscent
Ultra-long
nCATS
url https://doi.org/10.1186/s13059-025-03591-w
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