Evidence map›Paper›PMID 24395829›Full record

ArticleGenome research2014

An unbiased resource of novel SNP markers provides a new chronology for the human Y chromosome and reveals a deep phylogenetic structure in Africa.

Rosaria Scozzari, Andrea Massaia, Beniamino Trombetta, Giovanna Bellusci, Natalie M Myres, Andrea Novelletto, Fulvio Cruciani

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Article in Genome research, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.

0numbers the graph read from it
0cells of the map it votes in
39citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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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

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3 · Its place in the literature

Who cites it

39 citing papers in PubMed.

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  15. Genetic Diversity on the Sex Chromosomes.Genome biology and evolution · 2018
    Review
  16. Article
  17. Article
  18. Article
  19. The Y chromosome: a blueprint for men's health?European journal of human genetics : EJHG · 2017
    Review
  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

7 authors.

Rosaria ScozzariDipartimento di Biologia e Biotecnologie "C. Darwin," Sapienza Università di Roma, Rome 00185, Italy;
Andrea Massaia
Beniamino Trombetta
Giovanna Bellusci
Natalie M Myres
Andrea Novelletto
Fulvio Cruciani

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Sequence diversity and the ages of the deepest nodes of the MSY phylogeny remain largely unexplored due to the severely biased collection of SNPs available for study. We characterized 68 worldwide Y chromosomes by high-coverage next-generation sequencing, including 18 deep-rooting ones, and identified 2386 SNPs, 80% of which were novel. Many aspects of this pool of variants resembled the pattern observed among genome-wide de novo events, suggesting that in the MSY, a large proportion of newly arisen alleles has survived in the phylogeny. Some degree of purifying selection emerged in the form of an excess of private missense variants. Our tree recapitulated the previously known topology, but the relative lengths of major branches were drastically modified and the associated node ages were remarkably older. We found significantly different branch lengths when comparing the rare deep-rooted A1b African lineage with the rest of the tree. Our dating results and phylogeography led to the following main conclusions: (1) Patrilineal lineages with ages approaching those of early AMH fossils survive today only in central-western Africa; (2) only a few evolutionarily successful MSY lineages survived between 160 and 115 kya; and (3) an early exit out of Africa (before 70 kya), which fits recent western Asian archaeological evidence, should be considered. Our experimental design produced an unbiased resource of new MSY markers informative for the initial formation of the anatomically modern human gene pool, i.e., a period of our evolution that had been previously considered to be poorly accessible with paternally inherited markers.

Indexed as

Black PeopleChromosomes, Human, YEvolution, MolecularGenetic VariationGenome, HumanHumansMutation, MissenseMutation RatePhylogenyPolymorphism, Single NucleotideSelection, GeneticSequence Analysis, DNA

Identifiers

PMID24395829
PMCPMC3941117

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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.