The in vitro survival of human monosomies and trisomies as embryonic stem cells

Juan Carlos Biancotti; Kavita Narwani; Berhan Mandefro; Tamar Golan-Lev; Nicole Buehler; David Hill; Clive N. Svendsen; Nissim Benvenisty

doi:10.1016/j.scr.2012.07.002

The in vitro survival of human monosomies and trisomies as embryonic stem cells

Juan Carlos Biancotti^*, Kavita Narwani, Berhan Mandefro, Tamar Golan-Lev, Nicole Buehler, David Hill, Clive N. Svendsen, Nissim Benvenisty

^*Corresponding author for this work

Department of Genetics

Research output: Contribution to journal › Article › peer-review

20 Scopus citations

Abstract

Chromosomal aneuploidies are responsible for severe human genetic diseases. Aiming at creating models for such disorders, we have generated human embryonic stem cell (hESC) lines from pre-implantation genetic screened (PGS) embryos. The overall analysis of more than 400 aneuploid PGS embryos showed a similar risk of occurrence of monosomy or trisomy for any specific chromosome. However, the generation of hESCs from these embryos revealed a clear bias against monosomies in autosomes. Moreover, only specific trisomies showed a high chance of survival as hESC lines, enabling us to present another categorization of human aneuploidies. Our data suggest that chromosomal haploinsufficiency leads to lethality at very early stages of human development.

Original language	English
Pages (from-to)	218-224
Number of pages	7
Journal	Stem Cell Research
Volume	9
Issue number	3
DOIs	https://doi.org/10.1016/j.scr.2012.07.002
State	Published - Nov 2012

Bibliographical note

Funding Information:
We thank Catherine Bresse for her valuable assistance in the statistical analysis. This work was supported by the CIRM grant # RL1-00636-1 .

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10.1016/j.scr.2012.07.002

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title = "The in vitro survival of human monosomies and trisomies as embryonic stem cells",

abstract = "Chromosomal aneuploidies are responsible for severe human genetic diseases. Aiming at creating models for such disorders, we have generated human embryonic stem cell (hESC) lines from pre-implantation genetic screened (PGS) embryos. The overall analysis of more than 400 aneuploid PGS embryos showed a similar risk of occurrence of monosomy or trisomy for any specific chromosome. However, the generation of hESCs from these embryos revealed a clear bias against monosomies in autosomes. Moreover, only specific trisomies showed a high chance of survival as hESC lines, enabling us to present another categorization of human aneuploidies. Our data suggest that chromosomal haploinsufficiency leads to lethality at very early stages of human development.",

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AU - Mandefro, Berhan

AU - Golan-Lev, Tamar

AU - Buehler, Nicole

AU - Hill, David

AU - Svendsen, Clive N.

AU - Benvenisty, Nissim

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AB - Chromosomal aneuploidies are responsible for severe human genetic diseases. Aiming at creating models for such disorders, we have generated human embryonic stem cell (hESC) lines from pre-implantation genetic screened (PGS) embryos. The overall analysis of more than 400 aneuploid PGS embryos showed a similar risk of occurrence of monosomy or trisomy for any specific chromosome. However, the generation of hESCs from these embryos revealed a clear bias against monosomies in autosomes. Moreover, only specific trisomies showed a high chance of survival as hESC lines, enabling us to present another categorization of human aneuploidies. Our data suggest that chromosomal haploinsufficiency leads to lethality at very early stages of human development.

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The in vitro survival of human monosomies and trisomies as embryonic stem cells

Abstract

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