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Project
The origins of mitochondrial DNA mosaicism in early human development (FWOKN307)
This project proposal is driven by serendipitous results from another study, in which we investigated the mitochondrial genome of human pluripotent stem cells. There, we found surprising levels of mosaicism in induced pluripotent stem cell cultures, which appeared to be present already in the cells from which we derived the stem cells. This suggested that the individuals donating these cells
were themselves mosaics. Also, there are in the literature a number of reports showing conflicting results in preimplantation genetic diagnosis for mitochondrial mutations. Several authors have found that the different cells of an embryo contain variable levels of mitochondrial DNA mutations.
This prompted us to hypothesise that in some embryos there is an asymmetrical distribution of mitochondria in terms of genetic variants, which results in a very early form of mosaicism. To study this, we will characterise the mitochondrial genome of each blastomere of 8-cell stage human embryos by massive parallel sequencing. These data will provide a unique insight into the segregation of mitochondrial variants in human development, and test the above hypothesis on the origin of mitochondrial DNA cellular diversity.
were themselves mosaics. Also, there are in the literature a number of reports showing conflicting results in preimplantation genetic diagnosis for mitochondrial mutations. Several authors have found that the different cells of an embryo contain variable levels of mitochondrial DNA mutations.
This prompted us to hypothesise that in some embryos there is an asymmetrical distribution of mitochondria in terms of genetic variants, which results in a very early form of mosaicism. To study this, we will characterise the mitochondrial genome of each blastomere of 8-cell stage human embryos by massive parallel sequencing. These data will provide a unique insight into the segregation of mitochondrial variants in human development, and test the above hypothesis on the origin of mitochondrial DNA cellular diversity.
Date:1 Jan 2018 → 31 Dec 2018
Keywords:embryo, genetics
Disciplines:Genetics