Mary Herbert
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View article: Mitochondrial Donation and Preimplantation Genetic Testing for mtDNA Disease
Mitochondrial Donation and Preimplantation Genetic Testing for mtDNA Disease Open
We found that mitochondrial donation through pronuclear transfer was compatible with human embryo viability. An integrated program involving pronuclear transfer and PGT was effective in reducing the transmission of homoplasmic and heteropl…
View article: Mitochondrial Donation in a Reproductive Care Pathway for mtDNA Disease
Mitochondrial Donation in a Reproductive Care Pathway for mtDNA Disease Open
Pathogenic variants in mitochondrial DNA (mtDNA) are a common cause of severe, often fatal, inherited metabolic disease. A reproductive care pathway was implemented to provide women carrying pathogenic mtDNA variants with reproductive opti…
An ultra-conserved poison exon in the Tra2b gene encoding a splicing activator is essential for male fertility and meiotic cell division Open
The cellular concentrations of splicing factors (SFs) are critical for controlling alternative splicing. Most serine and arginine-enriched (SR) protein SFs regulate their own concentration via a homeostatic feedback mechanism that involves…
Suppression of ERK signalling promotes pluripotent epiblast in the human blastocyst Open
Studies in the mouse demonstrate the importance of fibroblast growth factor (FGF) and extra-cellular receptor tyrosine kinase (ERK) in specification of embryo-fated epiblast and yolk-sac-fated hypoblast cells from uncommitted inner cell ma…
Genome Editing Tools to Increase the Efficacy of Mitochondrial Donation Open
Mitochondrial donation (MD) aims to prevent transmission of mtDNA disease by transplanting the nuclear genome from an affected woman’s egg to an enucleated egg from an unaffected donor. The nuclear DNA is transplanted in a karyoplast, whic…
Mitochondrial Donation: The UK Experience Open
Mutations in mitochondrial DNA (mtDNA) are inherited exclusively from our mothers and can cause a broad range of debilitating and fatal diseases. Reproductive technologies designed to uncouple the inheritance of the mitochondrial genome fr…
Feasibility and impact of haplogroup matching for mitochondrial replacement treatment Open
Mitochondrial replacement technology (MRT) aims to reduce the risk of serious disease in children born to women who carry pathogenic mitochondrial DNA (mtDNA) variants. By transplanting nuclear genomes from eggs of an affected woman to enu…
Deprotection of centromeric cohesin at meiosis II requires APC/C activity but not kinetochore tension Open
Genome haploidization involves sequential loss of cohesin from chromosome arms and centromeres during two meiotic divisions. At centromeres, cohesin's Rec8 subunit is protected from separase cleavage at meiosis I and then deprotected to al…
Oocyte aneuploidy—more tools to tackle an old problem Open
Meiosis generates a single-copy genome during two successive rounds of cell division after a single round of DNA replication. Failure to transmit exactly one copy of each chromosome during fertilization gives rise to aneuploid embryos resu…
<i>Tex19.1</i> inhibits the N-end rule pathway and maintains acetylated SMC3 cohesin and sister chromatid cohesion in oocytes Open
Age-dependent oocyte aneuploidy, a major cause of Down syndrome, is associated with declining sister chromatid cohesion in postnatal oocytes. Here we show that cohesion in postnatal mouse oocytes is regulated by Tex19.1. We show Tex19.1−/−…
Reversion after mitochondrial DNA replacement Open
This is a dataset of mitochondrial DNA sequence data used to generate ES cell lines in Hyslop et al. (2016, Nature) and has been subsequently used for an analysis of CSBII haplotypes in Hudson et al, (2019, Nature). The dataset contains a …
Reversion after mitochondrial DNA replacement Open
This is a dataset of mitochondrial DNA sequence data used to generate ES cell lines in Hyslop et al. (2016, Nature) and has been subsequently used for an analysis of CSBII haplotypes in Hudson et al, (2019, Nature). The dataset contains a …
View article: Differentiation of Human Embryonic Stem Cells to Sympathetic Neurons: A Potential Model for Understanding Neuroblastoma Pathogenesis
Differentiation of Human Embryonic Stem Cells to Sympathetic Neurons: A Potential Model for Understanding Neuroblastoma Pathogenesis Open
Background and Aims . Previous studies modelling human neural crest differentiation from stem cells have resulted in a low yield of sympathetic neurons. Our aim was to optimise a method for the differentiation of human embryonic stem cells…
Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution Open
The mitochondrial genome has recently become the focus of several high-impact next-generation sequencing studies investigating the effect of mutations in disease and assessing the efficacy of mitochondrial replacement therapies. However, t…
Mutation-specific effects in germline transmission of pathogenic mtDNA variants Open
This work has been funded by GROW-School of Oncology and Developmental Biology. The authors declare no competing interests.
Assessing mitochondrial heteroplasmy using Next Generation Sequencing: A note of caution. Open
FASTQ data and analytical pipeline. Data manifest and details can be found inside data archive.
Kinship governs fertility with pre-and post-zygotic mechanisms mediated by match of methylation patterns Open
It has been shown that kinship normally determines fertility in humans and animals. At smaller populations the curve of fertility against kinship rises steeply as kinship rises until inbreeding is reached. In large and progressively larger…
<i>Tex19.1</i> Regulates Acetylated SMC3 Cohesin and Prevents Aneuploidy in Mouse Oocytes Open
Age-dependent oocyte aneuploidy, a major cause of Down syndrome, is associated with declining sister chromatid cohesion in postnatal oocytes. Here we show that cohesion in postnatal mouse oocytes is regulated by Tex19.1 . We show that Tex1…
Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease Open
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 affe…