Evidence map›Paper›PMID 30091656›Full record

ArticleMolecular biology of the cell2018

Effects of human sex chromosome dosage on spatial chromosome organization.

Ziad Jowhar, Sigal Shachar, Prabhakar R Gudla, Darawalee Wangsa, Erin Torres, Jill L Russ, Gianluca Pegoraro, Thomas Ried, Armin Raznahan, Tom Misteli

Abstract read
In one paragraph

Article in Molecular biology of the cell, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.

0numbers the graph read from it
0cells of the map it votes in
16citing 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

16 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Review
  6. Review
  7. Article
  8. The Role of Epigenetics in Primary Biliary Cholangitis.International journal of molecular sciences · 2022
    Review
  9. Review
  10. Article
  11. Article
  12. X-chromosome regulation and sex differences in brain anatomy.Neuroscience and biobehavioral reviews · 2021
    Review
  13. Article
  14. Review
  15. Article
  16. X Inactivation and Escape: Epigenetic and Structural Features.Frontiers in cell and developmental biology · 2019
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Ziad JowharCell Biology of Genomes Group, National Institutes of Health, Bethesda, MD 20892.
Sigal ShacharCell Biology of Genomes Group, National Institutes of Health, Bethesda, MD 20892.
Prabhakar R GudlaHigh-Throughput Imaging Facility, National Institutes of Health, Bethesda, MD 20892.
Darawalee WangsaGenetics Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892.
Erin TorresHuman Genetics Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892.
Jill L RussHuman Genetics Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892.
Gianluca PegoraroHigh-Throughput Imaging Facility, National Institutes of Health, Bethesda, MD 20892.
Thomas RiedGenetics Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892.
Armin RaznahanHuman Genetics Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892.
Tom MisteliCell Biology of Genomes Group, National Institutes of Health, Bethesda, MD 20892.

Funding

HiTIF Microscopy Core FacilityZICBC011567 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI PEGORARO, GIANLUCA · 2014 to 2025
$15.8M
6 · The paper itself

Abstract

Sex chromosome aneuploidies (SCAs) are common genetic syndromes characterized by the presence of an aberrant number of X and Y chromosomes due to meiotic defects. These conditions impact the structure and function of diverse tissues, but the proximal effects of SCAs on genome organization are unknown. Here, to determine the consequences of SCAs on global genome organization, we have analyzed multiple architectural features of chromosome organization in a comprehensive set of primary cells from SCA patients with various ratios of X and Y chromosomes by use of imaging-based high-throughput chromosome territory mapping (HiCTMap). We find that X chromosome supernumeracy does not affect the size, volume, or nuclear position of the Y chromosome or an autosomal chromosome. In contrast, the active X chromosome undergoes architectural changes as a function of increasing X copy number as measured by a decrease in size and an increase in circularity, which is indicative of chromatin compaction. In Y chromosome supernumeracy, Y chromosome size is reduced suggesting higher chromatin condensation. The radial positioning of chromosomes is unaffected in SCA karyotypes. Taken together, these observations document changes in genome architecture in response to alterations in sex chromosome numbers and point to trans-effects of dosage compensation on chromosome organization.

Indexed as

Dosage Compensation, GeneticAdolescentAneuploidyCell NucleusCells, CulturedChildChromosomes, Human, Pair 18Chromosomes, Human, XChromosomes, Human, YFemaleFibroblastsHumansMaleRNA, Long NoncodingSex ChromosomesSkinRNA, Long NoncodingXIST non-coding RNA

Identifiers

PMID30091656
PMCPMC6233059

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-SA
Read underepoch 390

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.