Evidence map›Paper›PMID 42561950›Full record

ArticleCell genomics2026

Haplotype-resolved DiMeLo-seq maps centromeric chromatin in a complete diploid human genome.

Yuan Xu, Hailey Loucks, Julian Menendez, Fedor Ryabov, Julian K Lucas, Monika Cechova, Luke Morina, Emily Xu, Danilo Dubocanin, Cy Chittenden and 16 more

Abstract read
In one paragraph

Article in Cell genomics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Cross-species incompatibilities offer new insights into the functional consequences of satellite DNA evolution.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2026
    Review
  2. Article
  3. HOROSCOPE: Decoding human centromere architecture from short reads usingbioRxiv : the preprint server for biology · 2026
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

26 authors.

Yuan XuDepartment of Biomolecular Engineering, University of California, Santa Cruz, Santa Cruz, CA 95064, USA.
Hailey LoucksDepartment of Biomolecular Engineering, University of California, Santa Cruz, Santa Cruz, CA 95064, USA.
Julian MenendezDepartment of Biomolecular Engineering, University of California, Santa Cruz, Santa Cruz, CA 95064, USA.
Fedor RyabovUC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA 95064, USA; Centre for Biomedical Research and Technology, HSE University, Moscow 101000, Russia; The Center for Bio- and Medical Technologies, Moscow 121205, Russia.
Julian K LucasDepartment of Biomolecular Engineering, University of California, Santa Cruz, Santa Cruz, CA 95064, USA.
Monika CechovaUC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA 95064, USA; Faculty of Informatics, Masaryk University, 601 77 Brno, Czech Republic.
Luke MorinaDepartment of Biomedical Engineering, Johns Hopkins University, Baltimore, MD 21218, USA.
Emily XuDepartment of Biomolecular Engineering, University of California, Santa Cruz, Santa Cruz, CA 95064, USA.
Danilo DubocaninDepartment of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Cy ChittendenDepartment of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Mobin AsriDepartment of Biomolecular Engineering, University of California, Santa Cruz, Santa Cruz, CA 95064, USA.
Ivo ViolichUC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA 95064, USA.
Christian OrtizDepartment of Molecular, Cell and Developmental Biology, University of California, Santa Cruz, Santa Cruz, CA 95064, USA.
Joshua M V GardnerUC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA 95064, USA.
Todd HillakerUC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA 95064, USA.
Sara O'RourkeDepartment of Biomolecular Engineering, University of California, Santa Cruz, Santa Cruz, CA 95064, USA.
Brandy McNultyUC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA 95064, USA.
Tamara A PotapovaStowers Institute for Medical Research, Kansas City, MO 64110, USA.
Matthew W MitchellCoriell Institute for Medical Research, Camden, NJ 08103, USA.
Jacob P SchwartzDepartment of Molecular and Cellular Physiology, Stanford University, Palo Alto, CA 94305, USA.
Aaron F StraightDepartment of Biochemistry, Stanford University, Palo Alto, CA 94305, USA.
Jennifer L GertonStowers Institute for Medical Research, Kansas City, MO 64110, USA.
Winston TimpDepartment of Biomedical Engineering, Johns Hopkins University, Baltimore, MD 21218, USA; Department of Molecular Biology and Genetics, Johns Hopkins University, Baltimore, MD 21205, USA.
Ivan A AlexandrovDepartment of Anatomy and Anthropology & Department of Human Molecular Genetics and Biochemistry, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv 6997801, Israel.
Nicolas AltemoseDepartment of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA; Biohub - San Francisco, San Francisco, CA 94158, USA. Electronic address: altemose@stanford.edu.
Karen H MigaDepartment of Biomolecular Engineering, University of California, Santa Cruz, Santa Cruz, CA 95064, USA; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA 95064, USA. Electronic address: khmiga@ucsc.edu.

Funding

Center for Human Genome Reference DiversityUM1HG010971 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI Robert Mullan Cook-Deegan, Evan Eichler · 2024 to 2026
$8.6M
Telomere-to-telomere assemblies of human genomesR01HG011274 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI Karen Hayden Miga · 2020 to 2026
$4.5M
Genetics and Developmental Biology Training ProgramT32GM141828 · NIGMS · STANFORD UNIVERSITY · PI MARGARET T FULLER, Gavin J Sherlock · 2022 to 2026
$2.6M
Maintaining the integrity of a genomeR01CA266339 · NCI · STOWERS INSTITUTE FOR MEDICAL RESEARCH · PI JENNIFER L GERTON · 2022 to 2026
$1.9M
Tooling for accurately studying the epigenome along the human pangenome referenceU01HG013744 · NHGRI · UNIVERSITY OF WASHINGTON · PI STERGACHIS, ANDREW BEN · 2024 to 2024
$1.4M
Deciphering genome integrity maintenance using cytogenomicsR50CA305001 · NCI · STOWERS INSTITUTE FOR MEDICAL RESEARCH · PI Tamara A Potapova · 2025 to 2026
$251k
NCI NIH HHS R01 CA266339NCI NIH HHS R50 CA305001NHGRI NIH HHS R01 HG011274NHGRI NIH HHS U01 HG013744NHGRI NIH HHS UM1 HG010971NIGMS NIH HHS T32 GM141828
6 · The paper itself

Abstract

Centromeres ensure chromosome segregation, but their chromatin organization within repetitive alpha-satellite DNA has been difficult to resolve. To address this, we generated haplotype-resolved satellite DNA annotations for the complete diploid T2T-HG002 human genome assembly, then we mapped centromere protein A (CENP-A), H3K9me3, and CpG methylation on ultra-long, adaptively sampled nanopore reads using directed methylation with long-read sequencing (DiMeLo-seq). We find that CENP-A occupies multiple discrete subdomains within hypomethylated centromere dip regions (CDRs), with constrained aggregate size and balanced CENP-A dosage between homologous chromosomes despite extensive satellite array variation. We also show that extended lymphoblastoid cell culture and induced pluripotent stem cell (iPSC) reprogramming remodel DNA methylation and alter CENP-A abundance and CDR subdomain organization. These results define a single-molecule, haplotype-resolved framework for studying human centromere plasticity, epigenetic inheritance, and chromosomal instability in development and disease.

Indexed as

CentromereChromatinGenome, HumanHaplotypesCentromere Protein ADiploidyDNA MethylationDNA, SatelliteEpigenesis, GeneticHumansInduced Pluripotent Stem CellsCENPA protein, humanCentromere Protein AChromatinDNA, Satellitealpha satellitecentromereheterochromatinmethylationpericentromeresingle-molecule epigenomicstelomere-to-telomere genome

Identifiers

PMID42561950
PMCPMC13477032

What OpenQuestion holds

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.