Embryonic loss of human females with partial trisomy 19 identifies region critical for the single active X

Barbara R. Migeon, Michael A. Beer, Hans T. Bjornsson

Research output: Contribution to journalArticlepeer-review

12 Citations (Scopus)

Abstract

To compensate for the sex difference in the number of X chromosomes, human females, like human males have only one active X. The other X chromosomes in cells of both sexes are silenced in utero by XIST, the Inactive X Specific Transcript gene, that is present on all X chromosomes. To investigate the means by which the human active X is protected from silencing by XIST, we updated the search for a key dosage sensitive XIST repressor using new cytogenetic data with more precise resolution. Here, based on a previously unknown sex bias in copy number variations, we identify a unique region in our genome, and propose candidate genes that lie within, as they could inactivate XIST. Unlike males, the females who duplicate this region of chromosome 19 (partial 19 trisomy) do not survive embryogenesis; this preimplantation loss of females may be one reason that more human males are born than females.

Original languageEnglish
Article numbere0170403
JournalPLoS ONE
Volume12
Issue number4
DOIs
Publication statusPublished - Apr 2017

Bibliographical note

Publisher Copyright:
© 2017 Migeon et al.This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

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