Reproduction Abstracts

Mitochondrial DNA (mtDNA) mutations are maternally inherited and are associated with a broad range of debilitating and fatal diseases. Reproductive technologies designed to uncouple the inheritance of mtDNA from nuclear DNA may enable affected women to have a genetically related child with a greatly reduced risk of mtDNA disease. To this end, we have performed preclinical studies on pronuclear transplantation (PNT). Surprisingly, techniques used in proof of concept studies inv...

The advent of site-specific nucleases and improved conditions for human iPSC culture now permits efficient engineering of human stem cells. CRISPR-Cas9 technology, in particular, provides a facile tool for the generation of a range of alleles in human stem cells with little risk of off-target damage. We established a high-throughput pipeline for the generation of homozygous knockout human iPSCs. We construct short arm targeting vectors and sgRNA expression plasmids in 96-well ...

DNA methylation is a broadly studied epigenetic modification that is essential for normal mammalian development. Over the years, numerous methodologies were developed trying to cope with the intrinsic challenge of reading the “second dimension” epigenetic code. The recent rapid expansion of sequencing technologies has made it possible to fully chart the methylation landscape of different cell types at single-base resolution. However, current methods provide only a st...