Evidence map›Paper›PMID 24817545›Full record

ArticleMolecular biology and evolution2014

Inter- and intraspecies phylogenetic analyses reveal extensive X-Y gene conversion in the evolution of gametologous sequences of human sex chromosomes.

Beniamino Trombetta, Daniele Sellitto, Rosaria Scozzari, Fulvio Cruciani

Open access · bronzeAbstract readComparative Study
In one paragraph

Article in Molecular biology and evolution, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.

0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed
4.0field-weighted citation impact, top 6% of its field
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

18 citing papers in PubMed, 32 citations in OpenAlex.

  1. Article
  2. Sex Chromosome Evolution: Hallmarks and Question Marks.Molecular biology and evolution · 2024
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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

4 authors at 2 institutions in 1 country.

Beniamino TrombettaDipartimento di Biologia e Biotecnologie "Charles Darwin," Sapienza Università di Roma, Roma, Italy.
Daniele SellittoIstituto di Biologia e Patologia Molecolari, CNR, Roma, Italy.
Rosaria ScozzariDipartimento di Biologia e Biotecnologie "Charles Darwin," Sapienza Università di Roma, Roma, Italy.
Fulvio CrucianiDipartimento di Biologia e Biotecnologie "Charles Darwin," Sapienza Università di Roma, Roma, ItalyIstituto di Biologia e Patologia Molecolari, CNR, Roma, ItalyIstituto Pasteur-Fondazione Cenci Bolognetti, Sapienza Università di Roma, Roma, Italy fulvio.cruciani@uniroma1.it.
Sapienza University of Rome · ITInstitute of Molecular Biology and Pathology · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

It has long been believed that the male-specific region of the human Y chromosome (MSY) is genetically independent from the X chromosome. This idea has been recently dismissed due to the discovery that X-Y gametologous gene conversion may occur. However, the pervasiveness of this molecular process in the evolution of sex chromosomes has yet to be exhaustively analyzed. In this study, we explored how pervasive X-Y gene conversion has been during the evolution of the youngest stratum of the human sex chromosomes. By comparing about 0.5 Mb of human-chimpanzee gametologous sequences, we identified 19 regions in which extensive gene conversion has occurred. From our analysis, two major features of these emerged: 1) Several of them are evolutionarily conserved between the two species and 2) almost all of the 19 hotspots overlap with regions where X-Y crossing-over has been previously reported to be involved in sex reversal. Furthermore, in order to explore the dynamics of X-Y gametologous conversion in recent human evolution, we resequenced these 19 hotspots in 68 widely divergent Y haplogroups and used publicly available single nucleotide polymorphism data for the X chromosome. We found that at least ten hotspots are still active in humans. Hence, the results of the interspecific analysis are consistent with the hypothesis of widespread reticulate evolution within gametologous sequences in the differentiation of hominini sex chromosomes. In turn, intraspecific analysis demonstrates that X-Y gene conversion may modulate human sex-chromosome-sequence evolution to a greater extent than previously thought.

Indexed as

Gene ConversionAnimalsChromosomes, Human, XChromosomes, Human, YEvolution, MolecularFemaleHaplotypesHumansMalePan troglodytesPhylogenyPolymorphism, Single NucleotideSequence Analysis, DNAX ChromosomeY Chromosomehuman Y chromosomerecombination hotspotssex chromosome evolutionX–Y gene conversion

Identifiers

PMID24817545
PMCPMC4104316
OpenAlexW2108639857

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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.