Mapping of long interspersed element-1 (L1) insertions by TIPseq provides information about sub chromosomal genetic variation in human embryos.
Fabiana Barzotto KohlrauschFang WangWilson McKerrowMark GrivainisDavid FenyoDavid L KeefePublished in: Journal of assisted reproduction and genetics (2024)
Several studies have measured L1 expression at different stages of development in mice, but this study for the first time reports unknown insertions in human embryos that were inherited from one parent, confirming no de novo L1 insertions occurred in parental germline or during embryogenesis. Since one-third of euploid embryo transfers fail, future studies would be useful for understanding whether these sub-chromosomal genetic variants or de novo L1 insertions affect embryo developmental potential.
Keyphrases
- endothelial cells
- induced pluripotent stem cells
- pluripotent stem cells
- copy number
- high resolution
- case control
- emergency department
- gene expression
- dna methylation
- dna damage
- dna repair
- oxidative stress
- skeletal muscle
- pregnant women
- binding protein
- mass spectrometry
- transcription factor
- health information
- wild type