Embryonic Loss of Human Females with Partial Trisomy 19 Identifies Region Critical for the Single Active X

Overview

Journal PLoS One

Specialties General Medicine
Science

Date 2017 Apr 14

PMID 28403217

Citations 14

Authors

Barbara R Migeon

Michael A Beer

Hans T Bjornsson

Affiliations

Soon will be listed here.

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.

Citing Articles

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Silencing XIST on the future active X: Searching human and bovine preimplantation embryos for the repressor.

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Gene regulation in time and space during X-chromosome inactivation.

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