Mistakes Are Common; Should We Worry about Them?

Robinson, Wendy P.; Gobbo, Giulia F. Del

doi:10.1016/j.molmed.2021.04.008

Cited by 4 publications

(3 citation statements)

References 9 publications

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“…Mosaicism is a characteristic feature of the human placenta (Coorens et al, 2021, Robinson and Del Gobbo, 2021, Yuen and Robinson, 2011. Trophoblast cells possess a tolerance for karyotypic abnormalities not evident in the embryo or fetus (Coorens et al, 2021, Shahbazi et al, 2020, Yuen and Robinson, 2011.…”

Section: Discussionmentioning

confidence: 99%

“…The copyright holder for this preprint this version posted December 7, 2022. ; https://doi.org/10.1101/2022.12.07.22283218 doi: medRxiv preprint Mosaicism is a characteristic feature of the human placenta (Coorens et al, 2021;Robinson and Del Gobbo, 2021;Yuen and Robinson, 2011). Trophoblast cells possess a tolerance for karyotypic abnormalities not evident in the embryo or fetus (Coorens et al, 2021;Shahbazi et al, 2020;Yuen and Robinson, 2011).…”

Section: (Which Was Not Certified By Peer Review)mentioning

confidence: 99%

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Leveraging chorionic villus biopsies for the derivation of patient-specific trophoblast stem cells

Varberg

Moreno-Irusta

Novoa

et al. 2022

Preprint

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Human trophoblast stem (TS) cells are an informative in vitro model for the generation and testing of biologically meaningful hypotheses. The goal of this project was to derive patient-specific TS cell lines from clinically available chorionic villus sampling (CVS) biopsies. Cell outgrowths were captured from human CVS tissue specimens cultured in modified human TS cell medium. Cell colonies emerged early during the culture and cell lines were established and passaged for several generations. Karyotypes of the newly established CVS-derived trophoblast stem (TSCV) cell lines were determined and compared to initial genetic diagnoses from freshly isolated chorionic villi. Phenotypes of TSCV cells in the stem state and following differentiation were compared to cytotrophoblast-derived TS (TSCT) cells. TSCV and TSCT cells uniformly exhibited similarities in the stem state and following differentiation into syncytiotrophoblast. These shared features included morphology and gene expression. TSCV cell differentiation into extravillous trophoblast cells exhibited cell line dependent phenotypes. CVS tissue specimens provide a valuable source for TS cell derivation. They expand the genetic diversity of available TS cells and are associated with defined clinical outcomes. TSCV cell lines provide a new set of experimental tools for investigating trophoblast cell lineage development.

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Section: Discussionmentioning

confidence: 99%

Section: (Which Was Not Certified By Peer Review)mentioning

confidence: 99%

Leveraging chorionic villus biopsies for the derivation of patient-specific trophoblast stem cells

Varberg

Moreno-Irusta

Novoa

et al. 2022

Preprint

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“…More recently, Coorens et al used a sequencing-based approach to demonstrate that postzygotic mutations, including CNVs, are found in the placenta at a higher rate than in any other somatic tissue studied (Coorens et al, 2021). This mutational burden appears to be a part of normal development and may arise by multiple mechanisms unique to the placenta (Robinson and Del Gobbo, 2021). The mutations are often confined to small regions of the placenta due to its clonal pattern of development and are thus unlikely to impact gross fetal/placental development in most cases.…”

Section: Copy Number Variation In the Human Placenta: Narrowing Down ...mentioning

confidence: 99%

Genetic variation in placental insufficiency: What have we learned over time?

Wang

Fernández-Boyano

Robinson

2022

Front. Cell Dev. Biol.

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Genetic variation shapes placental development and function, which has long been known to impact fetal growth and pregnancy outcomes such as miscarriage or maternal pre-eclampsia. Early epidemiology studies provided evidence of a strong heritable component to these conditions with both maternal and fetal-placental genetic factors contributing. Subsequently, cytogenetic studies of the placenta and the advent of prenatal diagnosis to detect chromosomal abnormalities provided direct evidence of the importance of spontaneously arising genetic variation in the placenta, such as trisomy and uniparental disomy, drawing inferences that remain relevant to this day. Candidate gene approaches highlighted the role of genetic variation in genes influencing immune interactions at the maternal-fetal interface and angiogenic factors. More recently, the emergence of molecular techniques and in particular high-throughput technologies such as Single-Nucleotide Polymorphism (SNP) arrays, has facilitated the discovery of copy number variation and study of SNP associations with conditions related to placental insufficiency. This review integrates past and more recent knowledge to provide important insights into the role of placental function on fetal and perinatal health, as well as into the mechanisms leading to genetic variation during development.

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