The spontaneous differentiation and chromosome loss in iPSCs of human trisomy 18 syndrome.

Abstract:

:Aneuploidy including trisomy results in developmental disabilities and is the leading cause of miscarriages in humans. Unlike trisomy 21, pathogenic mechanisms of trisomy 18 remain unclear. Here, we successfully generated induced pluripotent stem cells (iPSCs) from human amniotic fluid cells (AFCs) with trisomy 18 pregnancies. We found that trisomy 18 iPSCs (18T-iPSCs) were prone to differentiate spontaneously. Intriguingly, 18T-iPSCs lost their extra 18 chromosomes and converted to diploid cells after 10 generations. fluorescence in situ hybridization analysis showed chromosome loss was a random event that might happen in any trisomic cells. Selection undifferentiated cells for passage accelerated the recovery of euploid cells. Overall, our findings indicate the genomic instability of trisomy 18 iPSCs bearing an extra chromosome 18.

journal_name

Cell Death Dis

journal_title

Cell death & disease

authors

Li T,Zhao H,Han X,Yao J,Zhang L,Guo Y,Shao Z,Jin Y,Lai D

doi

10.1038/cddis.2017.565

subject

Has Abstract

pub_date

2017-10-26 00:00:00

pages

e3149

issue

10

issn

2041-4889

pii

cddis2017565

journal_volume

8

pub_type

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