scholarly journals Evolution of viviparity in mammals: what genomic imprinting tells us about mammalian placental evolution

2019 ◽  
Vol 31 (7) ◽  
pp. 1219 ◽  
Author(s):  
Tomoko Kaneko-Ishino ◽  
Fumitoshi Ishino

Genomic imprinting is an epigenetic mechanism of regulating parent-of-origin-specific monoallelic expression of imprinted genes in viviparous therian mammals such as eutherians and marsupials. In this review we discuss several issues concerning the relationship between mammalian viviparity and genomic imprinting, as well as the domestication of essential placental genes: why has the genomic imprinting mechanism been so widely conserved despite the evident developmental disadvantages originating from monoallelic expression? How have genomic imprinted regions been established in the course of mammalian evolution? What drove the evolution of mammalian viviparity and how have genomic imprinting and domesticated genes contributed to this process? In considering the regulatory mechanism of imprinted genes, reciprocal expression of paternally and maternally expressed genes (PEGs and MEGs respectively) and the presence of several essential imprinted genes for placental formation and maintenance, it is likely that complementary, thereby monoallelic, expression of PEGs and MEGs is an evolutionary trade-off for survival. The innovation in novel imprinted regions was associated with the emergence of imprinting control regions, suggesting that genomic imprinting arose as a genome defence mechanism against the insertion of exogenous DNA. Mammalian viviparity emerged in the period when the atmospheric oxygen concentration was the lowest (~12%) during the last 550 million years (the Phanerozoic eon), implying this low oxygen concentration was a key factor in promoting mammalian viviparity as a response to a major evolutionary pressure. Because genomic imprinting and gene domestication from retrotransposons or retroviruses are effective measures of changing genomic function in therian mammals, they are likely to play critical roles in the emergence of viviparity for longer gestation periods.

2018 ◽  
Author(s):  
Tine Goovaerts ◽  
Sandra Steyaert ◽  
Chari A Vandenbussche ◽  
Jeroen Galle ◽  
Olivier Thas ◽  
...  

ABSTRACTGenomic imprinting, the parent-of-origin specific monoallelic expression of genes, plays an important role in growth and development. Loss of imprinting of individual genes has been found in varying cancers, yet data-analytical challenges have impeded systematic studies so far. We developed a mixture distribution model to detect monoallelically expressed loci in a genome-wide manner without the need for genotyping data, and applied the methodology on TCGA breast tissue RNA-seq data. We identified 35 putatively imprinted genes in healthy breast. In breast cancer however, HM13 was featured by significant loss of imprinting and expression upregulation, which could be linked to DNA demethylation. Other imprinted genes (25 out of 35) demonstrated consistent expression downregulation in breast cancer, which often correlated with loss of imprinting. A breast imprinted gene network, deregulated in cancer, might hence be present. In summary, our novel methodology highlights the massive deregulation of imprinting in breast cancer.


2021 ◽  
Vol 63 (9) ◽  
pp. 22-25
Author(s):  
Linh Chi Nguyen ◽  
◽  
Thi Tuong Chau Ngo ◽  
Dinh Tao Nguyen ◽  
Ngoc Diep Nguyen ◽  
...  

Objectives: evaluating the quality of embryo morphology cultured at low oxygen concentration (5%) at different stages of embryonic development: day 3, day 5. Methods: the present study examined 168 IVF/ICSI cycles from October 2019 to February 2021 at the Assisted Reproductive Center, 16A Ha Dong General Hospital. Embryos were randomly assigned to 2 groups: group 1 used a K-system G-210 tri-gas incubator (Australia) (5% O2, 5% CO2, 90% N2) while group 2 used a Thermo Scientific 371 dual-gas incubator (Denmark) (5% CO2, 75% N2 with 20% atmospheric Oxygen concentration). Participants in the study were patients younger than 37 years old, with AMH>1.2 ng/ml, and AFC≥4. Mature oocytes were injected with sperm, and cultured in a sequential medium (G1,G2-PLUSTM). Embryologists assessed embryos on the day of fertilisation, days 3, 5, and compared the results of the two groups, using the method of descriptive statistics and T-test. The results revealed an insignificant difference in fertilisation rate and the quality of cleavages cultured in these 2 groups (percentages of good- and average quality cleavages were, in turn, 77.28±4.62% và 77.99±5.03%, at p>0.05, number of poor quality cleavages were, in turn, 1.71±0.38 vs 1.97±0.49 with p>0.05). The results on day 5 embryo showed that the percentage of blastocysts (from fertilisation) and the percentage of morphologically good- and average-quality blastocysts tended to increase higher when cultured in 5% oxygen concentration (p<0.05) compared with the 20% one (57.79±3.60% and 53.05±4.50%, 78.62±4.42% and 70.97±5.67%, respectively). Conclusions: embryo cultured in a low oxygen concentration helps embryos develop better on day 5 than when cultured at atmospheric concentrations


Development ◽  
2002 ◽  
Vol 129 (8) ◽  
pp. 1807-1817 ◽  
Author(s):  
Jiyoung Lee ◽  
Kimiko Inoue ◽  
Ryuichi Ono ◽  
Narumi Ogonuki ◽  
Takashi Kohda ◽  
...  

Genomic imprinting is an epigenetic mechanism that causes functional differences between paternal and maternal genomes, and plays an essential role in mammalian development. Stage-specific changes in the DNA methylation patterns of imprinted genes suggest that their imprints are erased some time during the primordial germ cell (PGC) stage, before their gametic patterns are re-established during gametogenesis according to the sex of individuals. To define the exact timing and pattern of the erasure process, we have analyzed parental-origin-specific expression of imprinted genes and DNA methylation patterns of differentially methylated regions (DMRs) in embryos, each derived from a single day 11.5 to day 13.5 PGC by nuclear transfer. Cloned embryos produced from day 12.5 to day 13.5 PGCs showed growth retardation and early embryonic lethality around day 9.5. Imprinted genes lost their parental-origin-specific expression patterns completely and became biallelic or silenced. We confirmed that clones derived from both male and female PGCs gave the same result, demonstrating the existence of a common default state of genomic imprinting to male and female germlines. When we produced clone embryos from day 11.5 PGCs, their development was significantly improved, allowing them to survive until at least the day 11.5 embryonic stage. Interestingly, several intermediate states of genomic imprinting between somatic cell states and the default states were seen in these embryos. Loss of the monoallelic expression of imprinted genes proceeded in a step-wise manner coordinated specifically for each imprinted gene. DNA demethylation of the DMRs of the imprinted genes in exact accordance with the loss of their imprinted monoallelic expression was also observed. Analysis of DNA methylation in day 10.5 to day 12.5 PGCs demonstrated that PGC clones represented the DNA methylation status of donor PGCs well. These findings provide strong evidence that the erasure process of genomic imprinting memory proceeds in the day 10.5 to day 11.5 PGCs, with the timing precisely controlled for each imprinted gene. The nuclear transfer technique enabled us to analyze the imprinting status of each PGC and clearly demonstrated a close relationship between expression and DNA methylation patterns and the ability of imprinted genes to support development.


2017 ◽  
Author(s):  
Chen Chen ◽  
Tingting Li ◽  
Shan Zhu ◽  
Zehou Liu ◽  
Zhenyuan Shi ◽  
...  

AbstractGenomic imprinting is an epigenetic phenomenon by which certain genes display monoallelic expression in a parent-of-origin-dependent manner. Hundreds of imprinted genes have been identified from several plant species. Here we identified, with a high level of confidence, 208 imprinted candidates from rice. Imprinted genes of rice showed limited association to the transposable elements, which is contrast to the findings inArabidopsis. Generally, imprinting of rice is conserved within species, but intraspecific variations were confirmed here. Imprinting between cultivated rice and wild rice are likely similar. The imprinted genes of rice do not show significant selective signatures overall, which suggests that domestication imposes limited evolutionary effects on genomic imprinting of rice. Though the conservation of imprinting in plants is limited, here we prove that some loci tend to be imprinted in different species. In addition, our results suggest that differential epigenetic regulation between parental alleles can be established either prior to or post-fertilization. The imprinted 24-nt small RNAs, but not the 21-nt ones, likely involve the regulation of imprinting in an opposite parental-allele targeting manner. Together, our findings suggest that regulation of imprinting can be very diverse, and genomic imprinting as well as imprinted genes have essential evolutionary and biological significance.


2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Shiran Bar ◽  
Dan Vershkov ◽  
Gal Keshet ◽  
Elyad Lezmi ◽  
Naama Meller ◽  
...  

AbstractIn mammals, imprinted genes are regulated by differentially methylated regions (DMRs) that are inherited from germ cells, leading to monoallelic expression in accordance with parent-of-origin. Yet, it is largely unknown how imprinted DMRs are maintained in human embryos despite global DNA demethylation following fertilization. Here, we explored the mechanisms involved in imprinting regulation by employing human parthenogenetic embryonic stem cells (hpESCs), which lack paternal alleles. We show that although global loss of DNA methylation in hpESCs affects most imprinted DMRs, many paternally-expressed genes (PEGs) remain repressed. To search for factors regulating PEGs, we performed a genome-wide CRISPR/Cas9 screen in haploid hpESCs. This revealed ATF7IP as an essential repressor of a set of PEGs, which we further show is also required for silencing sperm-specific genes. Our study reinforces an important role for histone modifications in regulating imprinted genes and suggests a link between parental imprinting and germ cell identity.


2006 ◽  
Vol 361 (1476) ◽  
pp. 2229-2237 ◽  
Author(s):  
Anthony R Isles ◽  
William Davies ◽  
Lawrence S Wilkinson

Genomic imprinting refers to the parent-of-origin-specific epigenetic marking of a number of genes. This epigenetic mark leads to a bias in expression between maternally and paternally inherited imprinted genes, that in some cases results in monoallelic expression from one parental allele. Genomic imprinting is often thought to have evolved as a consequence of the intragenomic conflict between the parental alleles that occurs whenever there is an asymmetry of relatedness. The two main examples of asymmetry of relatedness are when there is partiality of parental investment in offspring (as is the case for placental mammals, where there is also the possibility of extended postnatal care by one parent), and in social groups where there is a sex-biased dispersal. From this evolutionary starting point, it is predicted that, at the behavioural level, imprinted genes will influence what can broadly be termed bonding and social behaviour. We examine the animal and human literature for examples of imprinted genes mediating these behaviours, and divide them into two general classes. Firstly, mother–offspring interactions (suckling, attachment and maternal behaviours) that are predicted to occur when partiality in parental investment in early postnatal offspring occurs; and secondly, adult social interactions, when there is an asymmetry of relatedness in social groups. Finally, we return to the evolutionary theory and examine whether there is a pattern of behavioural functions mediated by imprinted genes emerging from the limited data, and also whether any tangible predictions can be made with regards to the direction of action of genes of maternal or paternal origin.


2021 ◽  
Vol 560 ◽  
pp. 179-185
Author(s):  
Adiza Abass ◽  
Tokuju Okano ◽  
Kotchakorn Boonyaleka ◽  
Ryo Kinoshita-Daitoku ◽  
Shoji Yamaoka ◽  
...  

1982 ◽  
Vol 92 (1) ◽  
pp. 172 ◽  
Author(s):  
J. H. Hendry ◽  
J. V. Moore ◽  
B. W. Hodgson ◽  
J. P. Keene

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