Section: Evolutionary Biology
Topic: Evolution, Genetics/Genomics, Population biology

The quiescent X, the replicative Y and the Autosomes

Achaz, Guillaume1, 2  ; Gangloff, Serge3 ; Arcangioli, Benoit3 
1 Institut Systématique Évolution Biodiversité (ISYEB), Muséum National d’Histoire Naturelle, SU, CNRS, EPHE, UA, Paris, France
2 SMILE, UMR 7241 CIRB, Collège de France, Paris, France
3 Dynamics of the Genome, Genomes and Genetics, Institut Pasteur, UMR 3525, CNRS-Institut Pasteur, Paris, France

Corresponding author(s): Achaz, Guillaume (guillaume.achaz@mnhn.fr)

10.24072/pcjournal.99 - Peer Community Journal, Volume 2 (2022), article no. e18.

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From the analysis of the mutation spectrum in the 2,504 sequenced human genomes from the 1000 genomes project (phase 3), we show that sexual chromosomes (X and Y) exhibit a different proportion of indel mutations than autosomes (A), ranking them X>A>Y. We further show that X chromosomes exhibit a higher ratio of deletion/insertion when compared to autosomes. This simple pattern shows that the recent report that non-dividing quiescent yeast cells accumulate relatively more indels (and particularly deletions) than replicating ones also applies to metazoan cells, including humans. Indeed, the X chromosomes display more indels than the autosomes, having spent more time in quiescent oocytes, whereas the Y chromosomes are solely present in the replicating spermatocytes. From the proportion of indels, we have inferred thatde novomutations arising in the maternal lineage are twice more likely to be indels than mutations from the paternal lineage. Our observation, consistent with a recent trio analysis of the spectrum of mutations inherited from the maternal lineage, is likely a major component in our understanding of the origin of anisogamy.

Published online:
DOI: 10.24072/pcjournal.99
Type: Research article

Achaz, Guillaume 1, 2; Gangloff, Serge 3; Arcangioli, Benoit 3

1 Institut Systématique Évolution Biodiversité (ISYEB), Muséum National d’Histoire Naturelle, SU, CNRS, EPHE, UA, Paris, France
2 SMILE, UMR 7241 CIRB, Collège de France, Paris, France
3 Dynamics of the Genome, Genomes and Genetics, Institut Pasteur, UMR 3525, CNRS-Institut Pasteur, Paris, France
License: CC-BY 4.0
Copyrights: The authors retain unrestricted copyrights and publishing rights 
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Achaz, Guillaume; Gangloff, Serge; Arcangioli, Benoit. The quiescent X, the replicative Y and the Autosomes. Peer Community Journal, Volume 2 (2022), article  no. e18. doi : 10.24072/pcjournal.99. https://peercommunityjournal.org/articles/10.24072/pcjournal.99/

PCI peer reviews and recommendation, and links to data, scripts, code and supplementary information: 10.24072/pci.evolbiol.100066

Conflict of interest of the recommender and peer reviewers:
The recommender in charge of the evaluation of the article and the reviewers declared that they have no conflict of interest (as defined in the code of conduct of PCI) with the authors or with the content of the article.

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