Evidence map›Paper›PMID 18553096›Full record

ArticleInternational journal of legal medicine2009

Genomic complexity of the Y-STR DYS19: inversions, deletions and founder lineages carrying duplications.

Patricia Balaresque, Emma J Parkin, Lutz Roewer, Denise R Carvalho-Silva, R John Mitchell, Roland A H van Oorschot, Jürgen Henke, Mark Stoneking, Ivan Nasidze, Jon Wetton and 3 more

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In one paragraph

Article in International journal of legal medicine, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
1.3field-weighted citation impact, top 17% 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

11 citing papers in PubMed, 32 citations in OpenAlex.

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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

13 authors at 10 institutions in 4 countries.

Patricia BalaresqueDepartment of Genetics, University of Leicester, University Road, Leicester, LE1 7RH, UK.
Emma J Parkin
Lutz Roewer
Denise R Carvalho-Silva
R John Mitchell
Roland A H van Oorschot
Jürgen Henke
Mark Stoneking
Ivan Nasidze
Jon Wetton
Peter de Knijff
Chris Tyler-Smith
Mark A Jobling
University of Leicester · GBWellcome Sanger Institute · GBCharité - Universitätsmedizin Berlin · DEGP Forschungsgruppe · DELa Trobe University · AULeiden University · NLMax Planck Institute for Evolutionary Anthropology · DEMax Planck Society · DESolihull Hospital · GBVictoria Police · AU

Funding

Wellcome Trust 057559Wellcome Trust 077009
6 · The paper itself

Abstract

The Y-STR DYS19 is firmly established in the repertoire of Y-chromosomal markers used in forensic analysis yet is poorly understood at the molecular level, lying in a complex genomic environment and exhibiting null alleles, as well as duplications and occasional triplications in population samples. Here, we analyse three null alleles and 51 duplications and show that DYS19 can also be involved in inversion events, so that even its location within the short arm of the Y chromosome is uncertain. Deletion mapping in the three chromosomes carrying null alleles shows that their deletions are less than approximately 300 kb in size. Haplotypic analysis with binary markers shows that they belong to three different haplogroups and so represent independent events. In contrast, a collection of 51 DYS19 duplication chromosomes belong to only four haplogroups: two are singletons and may represent somatic mutation in lymphoblastoid cell lines, but two, in haplogroups G and C3c, represent founder lineages that have spread widely in Central Europe/West Asia and East Asia, respectively. Consideration of candidate mechanisms underlying both deletions and duplications provides no evidence for the involvement of non-allelic homologous recombination, and they are likely to represent sporadic events with low mutation rates. Understanding the basis and population distribution of these DYS19 alleles will aid in the utilisation and interpretation of profiles that contain them.

Indexed as

Chromosome DeletionChromosome InversionChromosomes, Human, YGene DuplicationTandem Repeat SequencesChromosome MappingElectrophoresis, Agar GelForensic GeneticsGenetic MarkersHaplotypesHumansMalePolymerase Chain ReactionGenetic Markers

Identifiers

PMID18553096
PMCPMC2680205
OpenAlexW2131349108

What OpenQuestion holds

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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.