The in vitro survival of human monosomies and trisomies as embryonic stem cells.
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.
Regenerative Medicine Institute and Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA. biancottij@cshs.org
Juan Carlos
JC
Biancotti
Kavita
K
Narwani
Berhan
B
Mandefro
Tamar
T
Golan-Lev
Nicole
N
Buehler
David
D
Hill
Clive N
CN
Svendsen
Nissim
N
Benvenisty
D001755:Blastocyst / Q000166:cytology; D002454:Cell Differentiation; D002460:Cell Line; D002470:Cell Survival; D053595:Embryonic Stem Cells / Q000166:cytology*; D006801:Humans; D007621:Karyotyping; D009006:Monosomy; D014314:Trisomy