Evidence map›Paper›PMID 22402448›Full record

ReviewCurrent opinion in genetics & development2012

Chromosomal translocations and palindromic AT-rich repeats.

Takema Kato, Hiroki Kurahashi, Beverly S Emanuel

Abstract readReview
In one paragraph

Review in Current opinion in genetics & development, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
48citing papers in PubMed, 1 pooled it
7.6field-weighted citation impact, top 3% 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

48 citing papers in PubMed, 1 synthesis or guideline pooled it, 78 citations in OpenAlex.

  1. Pooled it
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  8. Review
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  15. Article
  16. Hotspots of Human Mutation.Trends in genetics : TIG · 2021
    Review
  17. Article
  18. Palindromes in DNA-A Risk for Genome Stability and Implications in Cancer.International journal of molecular sciences · 2021
    Review
  19. Article
  20. 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

3 authors at 3 institutions in 2 countries.

Takema KatoDivision of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Hiroki Kurahashi
Beverly S Emanuel
Children's Hospital of Philadelphia · USFujita Health University · JPUniversity of Pennsylvania · 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 R01 CA039926NCI NIH HHS R01CA039926
6 · The paper itself

Abstract

Repetitive DNA sequences constitute 30% of the human genome, and are often sites of genomic rearrangement. Recently, it has been found that several constitutional translocations, especially those that involve chromosome 22, take place utilizing palindromic sequences on 22q11 and on the partner chromosome. Analysis of translocation junction fragments shows that the breakpoints of such palindrome-mediated translocations are localized at the center of palindromic AT-rich repeats (PATRRs). The presence of PATRRs at the breakpoints indicates a palindrome-mediated mechanism involved in the generation of these constitutional translocations. Identification of these PATRR-mediated translocations suggests a universal pathway for gross chromosomal rearrangement in the human genome. De novo occurrences of PATRR-mediated translocations can be detected by PCR in normal sperm samples but not somatic cells. Polymorphisms of various PATRRs influence their propensity for adopting a secondary structure, which in turn affects de novo translocation frequency. We propose that the PATRRs form an unstable secondary structure, which leads to double-strand breaks at the center of the PATRR. The double-strand breaks appear to be followed by a non-homologous end-joining repair pathway, ultimately leading to the translocations. This review considers recent findings concerning the mechanism of meiosis-specific, PATRR-mediated translocations.

Indexed as

AT Rich SequenceInverted Repeat SequencesTranslocation, GeneticChromosomal InstabilityChromosome BreakpointsChromosomes, Human, Pair 22DNADNA Breaks, Double-StrandedDNA End-Joining RepairGenome, HumanHumansMaleNucleic Acid ConformationPolymerase Chain ReactionPolymorphism, GeneticSpermatozoaDNA

Identifiers

PMID22402448
PMCPMC3378763
OpenAlexW2084521362

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.