Evidence map›Paper›PMID 35644878›Full record

ReviewSeminars in cell & developmental biology2022

Satellite DNAs and human sex chromosome variation.

Monika Cechova, Karen H Miga

Open access · greenAbstract readReview
In one paragraph

Review in Seminars in cell & developmental biology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.3field-weighted citation impact, top 18% of its field
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

4 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. An extra X chromosome among adult women in the Million Veteran Program: A more benign perspective of trisomy X.American journal of medical genetics. Part C, Seminars in medical genetics · 2024
    Article
  3. Article
  4. 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

2 authors at 2 institutions in 2 countries.

Monika CechovaFaculty of Informatics, Masaryk University, Czech Republic.
Karen H MigaDepartment of Biomolecular Engineering, University of California Santa Cruz, CA, USA; UC Santa Cruz Genomics Institute, University of California Santa Cruz, CA 95064, USA.
Masaryk University · CZUniversity of California, Santa Cruz · US

Funding

Telomere-to-telomere assemblies of human genomesR01HG011274 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI Karen Hayden Miga · 2020 to 2026
$4.5M
IMPROVING THROUGHPUT OF LONG READS WITH HIGH CONSENSUS BASE ACCURACY TO RESOLVE REPETITIVE DNASR21HG010548 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI MIGA, KAREN HAYDEN · 2019 to 2020
$612k
NHGRI NIH HHS R01 HG011274NHGRI NIH HHS R21 HG010548
6 · The paper itself

Abstract

Satellite DNAs are present on every chromosome in the cell and are typically enriched in repetitive, heterochromatic parts of the human genome. Sex chromosomes represent a unique genomic and epigenetic context. In this review, we first report what is known about satellite DNA biology on human X and Y chromosomes, including repeat content and organization, as well as satellite variation in typical euploid individuals. Then, we review sex chromosome aneuploidies that are among the most common types of aneuploidies in the general population, and are better tolerated than autosomal aneuploidies. This is demonstrated also by the fact that aging is associated with the loss of the X, and especially the Y chromosome. In addition, supernumerary sex chromosomes enable us to study general processes in a cell, such as analyzing heterochromatin dosage (i.e. additional Barr bodies and long heterochromatin arrays on Yq) and their downstream consequences. Finally, genomic and epigenetic organization and regulation of satellite DNA could influence chromosome stability and lead to aneuploidy. In this review, we argue that the complete annotation of satellite DNA on sex chromosomes in human, and especially in centromeric regions, will aid in explaining the prevalence and the consequences of sex chromosome aneuploidies.

Indexed as

DNA, SatelliteHeterochromatinAneuploidyCentromereChromosomes, HumanHumansSex ChromosomesDNA, SatelliteHeterochromatinAneuploidyCentromereSatellite DNASex chromosomesX-inactivation

Identifiers

PMID35644878
PMCPMC9233459
OpenAlexW4281698501

What OpenQuestion holds

Textmetadata
LicenceTDM
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.