Page 57 - PCC08

Transcriptome Validation – Aneuploidy 15
1.200 1.000 0.800 0.600 0.400 0.200 0.000
‐0.200
PPIA (HSK)
MYO9A
FAM189A1
CYFIP1
Euploid (Donor) Trisomy 15
Monosomy 15
*
n=30, *p < 0.05
*
Genes
*
Monosomy 15 embryos are developmentally compromised compared to trisomy 15 and euploid.
McCallie et al, 2016
CYFIP1
Cell. 2008 Sep 19;134(6):1042-54. doi: 10.1016/j.cell.2008.07.031.
• Associated with fragile X syndrome.
• Involved in mRNA translation.
• Studies in KO mice have found that embryos are reduced in size, developmentally delayed, and CYFIP1 is required for embryo development past the blastocyst stage.
• Reduced expression in monosomy 15 blastocysts could impact ongoing development and implantation.
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PRECONGRESS COURSE 08 I BARCELONA, SPAIN – 1 JULY 2018 57
Normalized Fold Change