Genomic imprinting in development, growth, behavior and stem cells

Plasschaert, Robert N.; Bartolomei, Marisa S.

doi:10.1242/dev.101428

Cited by 207 publications

(182 citation statements)

References 109 publications

(105 reference statements)

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“…In addition, global DNA demethylation occurs in male pronucleus; this is active and rapid, and in the female pronucleus this is passive and slower, and epigenetic reprogramming commences. Roughly 150 genes are considered "imprinted" in that their methylation pattern (to suppress the expression of a gene) is determined by the parent of origin of the gene, and they retain their methylation pattern (260). Mitochondria that originate in the sperm are destroyed in early embryonic development, to prevent mitochondrial heteroplasmy (73).…”

Section: Fertilization and Early Embryonic Developmentmentioning

confidence: 99%

Physiological Aspects of Female Fertility: Role of the Environment, Modern Lifestyle, and Genetics

Hart

2016

Physiological Reviews

174

119

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Across the Western World there is an increasing trend to postpone childbearing. Consequently, the negative influence of age on oocyte quality may lead to a difficulty in conceiving for many couples. Furthermore, lifestyle factors may exacerbate a couple's difficulty in conceiving due mainly to the metabolic influence of obesity; however, the negative impacts of low peripheral body fat, excessive exercise, the increasing prevalence of sexually transmitted diseases, and smoking all have significant negative effects on fertility. Other factors that impede conception are the perceived increasing prevalence of the polycystic ovary syndrome, which is further exacerbated by obesity, and the presence of uterine fibroids and endometriosis (a progressive pelvic inflammatory disorder) which are more prevalent in older women. A tendency for an earlier sexual debut and to have more sexual partners has led to an increase in sexually transmitted diseases. In addition, there are several genetic influences that may limit the number of oocytes within the ovary; consequently, by postponing attempts at childbearing, a limitation of oocyte number may become evident, whereas in previous generations with earlier conception this potentially reduced reproductive life span did not manifest in infertility. Environmental influences on reproduction are under increasing scrutiny. Although firm evidence is lacking however, dioxin exposure may be linked to endometriosis, phthalate exposure may influence ovarian reserve, and bisphenol A may interfere with oocyte development and maturation. However, chemotherapy or radiotherapy is recognized to lead to ovarian damage and predispose the woman to ovarian failure.

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Section: Fertilization and Early Embryonic Developmentmentioning

confidence: 99%

Physiological Aspects of Female Fertility: Role of the Environment, Modern Lifestyle, and Genetics

Hart

2016

Physiological Reviews

174

119

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“…17,18 A number of imprinted genes have distinct expression patterns and functions within neuronal subtypes. 19 Thus, we analyzed gene expression levels in gPS-NSCs differentiated into neurons and astrocytes to determine whether the imprinting status in androgenetic cells correlates with the expression levels of the imprinted genes and affects their cell type-specific expression patterns (Fig. 4).…”

Section: Determination Of Imprinted Gene Expression In Gpsderived Neumentioning

confidence: 99%

Epigenetic alteration of imprinted genes during neural differentiation of germline-derived pluripotent stem cells

et al. 2016

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Spermatogonial stem cells (SSCs), which are unipotent stem cells in the testes that give rise to sperm, can be converted into germline-derived pluripotent stem (gPS) by self-induction. The androgenetic imprinting pattern of SSCs is maintained even after their reprogramming into gPS cells. In this study, we used an in vitro neural differentiation model to investigate whether the imprinting patterns are maintained or altered during differentiation. The androgenetic patterns of H19, Snrpn, and Mest were maintained even after differentiation of gPS cells into NSCs (gPS-NSCs), whereas the fully unmethylated status of Ndn in SSCs was altered to somatic patterns in gPS cells and gPS-NSCs. Thus, our study demonstrates epigenetic alteration of genomic imprinting during the induction of pluripotency in SSCs and neural differentiation, suggesting that gPS-NSCs can be a useful model to study the roles of imprinted genes in brain development and human neurodevelopmental disorders.

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“…For instance, some imprinted genes play a decisive role in growth control and developmental processes. 6 The disruption of these genes causes severe genetic syndromes including Prader-Willi syndrome (PWS [MIM: 176270]), Angelman syndrome (AS [MIM: 105830]), [7][8][9] Beckwith-Wiedemann syndrome (BWS [MIM: 130650]), [10][11][12] Silver-Russell syndrome (SRS [MIM: 180860]), 13,14 Temple syndrome (TS14 [MIM: 616222]), and Kagami-Ogata syndrome (KOS14 [MIM: 608149]). 15 In the early 1990s, Igf2 (paternally expressed) and H19 (maternally expressed) were the first two imprinted genes to be discovered in mice.…”

Section: Introductionmentioning

confidence: 99%

Detection of Imprinted Genes by Single-Cell Allele-Specific Gene Expression

Santoni

Stamoulis

Garieri

et al. 2017

The American Journal of Human Genetics

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Genomic imprinting results in parental-specific gene expression. Imprinted genes are involved in the etiology of rare syndromes and have been associated with common diseases such as diabetes and cancer. Standard RNA bulk cell sequencing applied to whole-tissue samples has been used to detect imprinted genes in human and mouse models. However, lowly expressed genes cannot be detected by using RNA bulk approaches. Here, we report an original and robust method that combines single-cell RNA-seq and whole-genome sequencing into an optimized statistical framework to analyze genomic imprinting in specific cell types and in different individuals. Using samples from the probands of 2 family trios and 3 unrelated individuals, 1,084 individual primary fibroblasts were RNA sequenced and more than 700,000 informative heterozygous single-nucleotide variations (SNVs) were genotyped. The allele-specific coverage per gene of each SNV in each single cell was used to fit a beta-binomial distribution to model the likelihood of a gene being expressed from one and the same allele. Genes presenting a significant aggregate allelic ratio (between 0.9 and 1) were retained to identify of the allelic parent of origin. Our approach allowed us to validate the imprinting status of all of the known imprinted genes expressed in fibroblasts and the discovery of nine putative imprinted genes, thereby demonstrating the advantages of single-cell over bulk RNA-seq to identify imprinted genes. The proposed single-cell methodology is a powerful tool for establishing a cell type-specific map of genomic imprinting.

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Genomic imprinting in development, growth, behavior and stem cells

Cited by 207 publications

References 109 publications

Physiological Aspects of Female Fertility: Role of the Environment, Modern Lifestyle, and Genetics

Physiological Aspects of Female Fertility: Role of the Environment, Modern Lifestyle, and Genetics

Epigenetic alteration of imprinted genes during neural differentiation of germline-derived pluripotent stem cells

Detection of Imprinted Genes by Single-Cell Allele-Specific Gene Expression

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