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

Department of Genetics

The Hebrew University of Jerusalem

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

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

All Science Journal Classification (ASJC) codes

Cell Biology
Developmental Biology

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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.",

author = "Biancotti, {Juan Carlos} and Kavita Narwani and Berhan Mandefro and Tamar Golan-Lev and Nicole Buehler and David Hill and Svendsen, {Clive N.} and Nissim Benvenisty",

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 .",

year = "2012",

month = nov,

doi = "10.1016/j.scr.2012.07.002",

language = "الإنجليزيّة",

volume = "9",

pages = "218--224",

journal = "Stem Cell Research",

issn = "1873-5061",

publisher = "Elsevier B.V.",

number = "3",

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TY - JOUR

T1 - The in vitro survival of human monosomies and trisomies as embryonic stem cells

AU - Biancotti, Juan Carlos

AU - Narwani, Kavita

AU - Mandefro, Berhan

AU - Golan-Lev, Tamar

AU - Buehler, Nicole

AU - Hill, David

AU - Svendsen, Clive N.

AU - Benvenisty, Nissim

N1 - 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 .

PY - 2012/11

Y1 - 2012/11

N2 - 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.

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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U2 - 10.1016/j.scr.2012.07.002

DO - 10.1016/j.scr.2012.07.002

M3 - مقالة

C2 - 22892439

SN - 1873-5061

VL - 9

SP - 218

EP - 224

JO - Stem Cell Research

JF - Stem Cell Research

IS - 3

ER -

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

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