Evidence map›Paper›PMID 24610746›Full record

ArticleHuman mutation2014

Gene conversion violates the stepwise mutation model for microsatellites in y-chromosomal palindromic repeats.

Patricia Balaresque, Turi E King, Emma J Parkin, Evelyne Heyer, Denise Carvalho-Silva, Thirsa Kraaijenbrink, Peter de Knijff, Chris Tyler-Smith, Mark A Jobling

Open access · hybridAbstract read
In one paragraph

Article in Human mutation, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed
2.8field-weighted citation impact, top 10% 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

17 citing papers in PubMed, 29 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Review
  11. Review
  12. Review
  13. Article
  14. Article
  15. Article
  16. Article
  17. 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

9 authors at 4 institutions in 3 countries.

Patricia BalaresqueUMR5288 CNRS/UPS-AMIS-Université Paul Sabatier, Toulouse, France; Department of Genetics, University of Leicester, Leicester, UK.
Turi E King
Emma J Parkin
Evelyne Heyer
Denise Carvalho-Silva
Thirsa Kraaijenbrink
Peter de Knijff
Chris Tyler-Smith
Mark A Jobling
University of Leicester · GBLeiden University · NLWellcome Sanger Institute · GBÉco-Anthropologie · FR

Funding

Wellcome Trust 087576
6 · The paper itself

Abstract

The male-specific region of the human Y chromosome (MSY) contains eight large inverted repeats (palindromes), in which high-sequence similarity between repeat arms is maintained by gene conversion. These palindromes also harbor microsatellites, considered to evolve via a stepwise mutation model (SMM). Here, we ask whether gene conversion between palindrome microsatellites contributes to their mutational dynamics. First, we study the duplicated tetranucleotide microsatellite DYS385a,b lying in palindrome P4. We show, by comparing observed data with simulated data under a SMM within haplogroups, that observed heteroallelic combinations in which the modal repeat number difference between copies was large, can give rise to homoallelic combinations with zero-repeats difference, equivalent to many single-step mutations. These are unlikely to be generated under a strict SMM, suggesting the action of gene conversion. Second, we show that the intercopy repeat number difference for a large set of duplicated microsatellites in all palindromes in the MSY reference sequence is significantly reduced compared with that for nonpalindrome-duplicated microsatellites, suggesting that the former are characterized by unusual evolutionary dynamics. These observations indicate that gene conversion violates the SMM for microsatellites in palindromes, homogenizing copies within individual Y chromosomes, but increasing overall haplotype diversity among chromosomes within related groups.

Indexed as

Gene ConversionMutationChromosomes, Human, YHumansInverted Repeat SequencesMicrosatellite RepeatsModels, GeneticDYS385gene conversionmicrosatellitepalindromestepwise mutation modelY chromosome

Identifiers

PMID24610746
PMCPMC4233959
OpenAlexW1975333860

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.