Evidence map›Paper›PMID 19737515›Full record

ArticleCell2009

Isodicentric Y chromosomes and sex disorders as byproducts of homologous recombination that maintains palindromes.

Julian Lange, Helen Skaletsky, Saskia K M van Daalen, Stephanie L Embry, Cindy M Korver, Laura G Brown, Robert D Oates, Sherman Silber, Sjoerd Repping, David C Page

Abstract read
In one paragraph

Article in Cell, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 114 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
114citing papers in PubMed, 1 pooled it
–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

114 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Guideline
  2. Article
  3. Article
  4. Heightened interest in the human X and Y chromosomes.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  5. Article
  6. Article
  7. Review
  8. Article
  9. Article
  10. Article
  11. Article
  12. SETD2 safeguards the genome against isochromosome formation.Proceedings of the National Academy of Sciences of the United States of America · 2023
    Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Satellite DNAs and human sex chromosome variation.Seminars in cell & developmental biology · 2022
    Review
  20. Article

54 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

10 authors.

Julian LangeHoward Hughes Medical Institute, Whitehead Institute, and Department of Biology, Massachusetts Institute of Technology, 9 Cambridge Center, Cambridge, MA 02142, USA.
Helen Skaletsky
Saskia K M van Daalen
Stephanie L Embry
Cindy M Korver
Laura G Brown
Robert D Oates
Sherman Silber
Sjoerd Repping
David C Page

Funding

MAPPING THE HUMAN Y CHROMOSOMER01HG000257 · NHGRI · WHITEHEAD INSTITUTE FOR BIOMEDICAL RES · PI PAGE, DAVID C. · 1991 to 2013
$15.3M
Howard Hughes Medical InstituteNHGRI NIH HHS R01 HG000257
6 · The paper itself

Abstract

Massive palindromes in the human Y chromosome harbor mirror-image gene pairs essential for spermatogenesis. During evolution, these gene pairs have been maintained by intrapalindrome, arm-to-arm recombination. The mechanism of intrapalindrome recombination and risk of harmful effects are unknown. We report 51 patients with isodicentric Y (idicY) chromosomes formed by homologous crossing over between opposing arms of palindromes on sister chromatids. These ectopic recombination events occur at nearly all Y-linked palindromes. Based on our findings, we propose that intrapalindrome sequence identity is maintained via noncrossover pathways of homologous recombination. DNA double-strand breaks that initiate these pathways can be alternatively resolved by crossing over between sister chromatids to form idicY chromosomes, with clinical consequences ranging from spermatogenic failure to sex reversal and Turner syndrome. Our observations imply that crossover and noncrossover pathways are active in nearly all Y-linked palindromes, exposing an Achilles' heel in the mechanism that preserves palindrome-borne genes.

Indexed as

Chromosomes, Human, YInverted Repeat SequencesRecombination, GeneticChromosomal InstabilityCrossing Over, GeneticFemaleHumansMaleSequence Homology, Nucleic AcidSex Chromosome DisordersSpermatogenesisTurner Syndrome

Identifiers

PMID19737515
PMCPMC3616640

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Registered trials

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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.