Evidence map›Paper›PMID 20507342›Full record

ReviewClinical genetics2010

The constitutional t(11;22): implications for a novel mechanism responsible for gross chromosomal rearrangements.

H Kurahashi, H Inagaki, T Ohye, H Kogo, M Tsutsumi, T Kato, M Tong, B S Emanuel

Abstract readReview
In one paragraph

Review in Clinical genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.

0numbers the graph read from it
0cells of the map it votes in
31citing papers in PubMed
25.7field-weighted citation impact, top 1% 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

31 citing papers in PubMed, 130 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Review
  10. Article
  11. Review
  12. Article
  13. Article
  14. Article
  15. Alternative DNA StructuresMicrobiology and molecular biology reviews : MMBR · 2021
    Review
  16. Article
  17. Article
  18. Review
  19. Article
  20. Article
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

8 authors at 2 institutions in 2 countries.

H KurahashiDivision of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Aichi, Japan. kura@fujita-hu.ac.jp
H Inagaki
T Ohye
H Kogo
M Tsutsumi
T Kato
M Tong
B S Emanuel
Fujita Health University · JPChildren's Hospital of Philadelphia · US

Funding

CYTOGENETIC AND MOLECULAR STUDIES OF HUMAN CHROMOSOME 22R01CA039926 · NCI · CHILDREN'S HOSP OF PHILADELPHIA · PI EMANUEL, BEVERLY S · 1985 to 2013
$4.0M
NCI NIH HHS CA39926NCI NIH HHS R01 CA039926
6 · The paper itself

Abstract

The constitutional t(11;22)(q23;q11) is the most common recurrent non-Robertsonian translocation in humans. The breakpoint sequences of both chromosomes are characterized by several hundred base pairs of palindromic AT-rich repeats (PATRRs). Similar PATRRs have also been identified at the breakpoints of other nonrecurrent translocations, suggesting that PATRR-mediated chromosomal translocation represents one of the universal pathways for gross chromosomal rearrangement in the human genome. We propose that PATRRs have the potential to form cruciform structures through intrastrand-base pairing in single-stranded DNA, creating a source of genomic instability and leading to translocations. Indeed, de novo examples of the t(11;22) are detected at a high frequency in sperm from normal healthy males. This review synthesizes recent data illustrating a novel paradigm for an apparent spermatogenesis-specific translocation mechanism. This observation has important implications pertaining to the predominantly paternal origin of de novo gross chromosomal rearrangements in humans.

Indexed as

AT Rich SequenceRepetitive Sequences, Nucleic AcidTranslocation, GeneticChromosome AberrationsChromosome BreakpointsChromosomes, Human, Pair 11Chromosomes, Human, Pair 22DNA, CruciformDNA, Single-StrandedFemaleGenome, HumanGenomic InstabilityHumansMaleSpermatogenesisDNA, CruciformDNA, Single-Stranded

Identifiers

PMID20507342
PMCPMC3336963
OpenAlexW1992190205

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.