A gene-by-gene mosaic of dosage compensation strategies on the human X chromosome
Adrianna K. San Roman,
Alexander K. Godfrey,
Daniel W Bellott,
Abigail F. Groff,
Laura V. Blanton,
Jennifer F Hughes,
Patricia C Lasutschinkow,
Nicole R Tartaglia,
David C Page
Posted 09 Aug 2021
bioRxiv DOI: 10.1101/2021.08.09.455676
Posted 09 Aug 2021
Dosage compensation in humans - ensuring the viability and fitness of females, with two X chromosomes, and males, with one - is thought to be achieved chromosome-wide by heterochromatinization of one X chromosome during female development. We reassessed this through quantitative gene-by-gene analyses of expression in individuals with one to four X chromosomes, tolerance for loss-of-function mutations, regulation by miRNAs, allele-specific expression, and the presence of homologous genes on the Y chromosome. We found a mosaic of dosage compensation strategies on the human X chromosome reflecting gene-by-gene differences in multiple dimensions, including sensitivity to under- or over-expression. These insights enrich our understanding of Turner, Klinefelter, and other sex chromosome aneuploidy syndromes, and of sex-chromosome-mediated effects on health and disease in euploid males and females.
- Downloaded 409 times
- Download rankings, all-time:
- Site-wide: 81,932
- In genetics: 3,516
- Year to date:
- Site-wide: 16,148
- Since beginning of last month:
- Site-wide: 8,097
Downloads over time
Distribution of downloads per paper, site-wide
- 27 Nov 2020: The website and API now include results pulled from medRxiv as well as bioRxiv.
- 18 Dec 2019: We're pleased to announce PanLingua, a new tool that enables you to search for machine-translated bioRxiv preprints using more than 100 different languages.
- 21 May 2019: PLOS Biology has published a community page about Rxivist.org and its design.
- 10 May 2019: The paper analyzing the Rxivist dataset has been published at eLife.
- 1 Mar 2019: We now have summary statistics about bioRxiv downloads and submissions.
- 8 Feb 2019: Data from Altmetric is now available on the Rxivist details page for every preprint. Look for the "donut" under the download metrics.
- 30 Jan 2019: preLights has featured the Rxivist preprint and written about our findings.
- 22 Jan 2019: Nature just published an article about Rxivist and our data.
- 13 Jan 2019: The Rxivist preprint is live!