scholarly journals Genetic Imprinting

2019 ◽  
Author(s):  
Keyword(s):  
Genetic Imprinting

scholarly journals Epigenetic Contribution and Genomic Imprinting Dlk1-Dio3 miRNAs in Systemic Lupus Erythematosus

Genes ◽  
2021 ◽  
Vol 12 (5) ◽  
pp. 680
Author(s):  
Rujuan Dai ◽  
Zhuang Wang ◽  
S. Ansar Ahmed
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Dna Methylation ◽  
Lupus Erythematosus ◽  
Critical Role ◽  
Methylation Status ◽  
Transcriptional Level ◽  
Dna Hypomethylation ◽  
Systemic Lupus ◽  
Multiple Organs ◽  
Genetic Imprinting

Systemic lupus erythematosus (SLE) is a multifactorial autoimmune disease that afflicts multiple organs, especially kidneys and joints. In addition to genetic predisposition, it is now evident that DNA methylation and microRNAs (miRNAs), the two major epigenetic modifications, are critically involved in the pathogenesis of SLE. DNA methylation regulates promoter accessibility and gene expression at the transcriptional level by adding a methyl group to 5′ cytosine within a CpG dinucleotide. Extensive evidence now supports the importance of DNA hypomethylation in SLE etiology. miRNAs are small, non-protein coding RNAs that play a critical role in the regulation of genome expression. Various studies have identified the signature lupus-related miRNAs and their functional contribution to lupus incidence and progression. In this review, the mutual interaction between DNA methylation and miRNAs regulation in SLE is discussed. Some lupus-associated miRNAs regulate DNA methylation status by targeting the DNA methylation enzymes or methylation pathway-related proteins. On the other hand, DNA hyper- and hypo-methylation are linked with dysregulated miRNAs expression in lupus. Further, we specifically discuss the genetic imprinting Dlk1-Dio3 miRNAs that are subjected to DNA methylation regulation and are dysregulated in several autoimmune diseases, including SLE.

scholarly journals Genetic imprinting of autoantibody repertoires in systemic lupus erythematosus patients

2008 ◽  
Vol 153 (1) ◽  
pp. 102-116 ◽  
Author(s):  
G. J. Silverman ◽  
R. Srikrishnan ◽  
K. Germar ◽  
C. S. Goodyear ◽  
K. A. Andrews ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Systemic Lupus ◽  
Genetic Imprinting

Genetic imprinting in human embryogenesis H19 and IGF2 gene expression

Placenta ◽  
1994 ◽  
Vol 15 ◽  
pp. 285-302
Author(s):  
Nathan de Groot ◽  
J. Rachmilewitz ◽  
I. Ariel ◽  
R. Goshen ◽  
O. Lustig ◽  
...  
Keyword(s):  
Gene Expression ◽  
Igf2 Gene ◽  
Genetic Imprinting ◽  
Human Embryogenesis

scholarly journals Segregation of autosomes during spermatogenesis in the peach-potato aphid (Myzus persicae) (Sulzer) (Hemiptera: Aphididae)

2002 ◽  
Vol 79 (2) ◽  
pp. 119-127 ◽  
Author(s):  
DINAH F. HALES ◽  
MATHEW A. SLOANE ◽  
ALEX C. C. WILSON ◽  
PAUL SUNNUCKS
Keyword(s):  
Sexual Reproduction ◽  
Genetic Markers ◽  
X Chromosome ◽  
Myzus Persicae ◽  
Microsatellite Loci ◽  
Male Meiosis ◽  
Deleterious Mutations ◽  
Potato Aphid ◽  
Genetic Imprinting ◽  
Peach Potato Aphid

Most aphids are cyclic parthenogens, so are ideal models in studies of the mechanisms and consequences of sex and recombination. However, owing to a shortage of physical and genetic markers, there have been few studies of the most fundamental genetic processes in these organisms. For example, it is not known whether autosomal segregation during male spermatogenesis is in Mendelian proportions: we address that question here. The aphid Myzus persicae has a typical karyotype of 2n = 12 in females (XX), while males are XO (2n = 11). During male meiosis, only the spermatocytes with an X chromosome are viable. We hypothesized that assortment of autosomes might be non-random because chromosomal imprinting leading to elimination of the paternal autosomes is seen in the closely related coccoids. In other aphid models, we have observed segregation distortions at single microsatellite loci (Wilson, 2000). Such distortions may have nothing to do with ‘selfish’ behaviour, but may be caused by mutation accumulation causing fitness differentials. Thus single-locus distortions might be predicted to be more likely to be detected via the male lines of clones that have lost the ability to reproduce sexually (male-producing obligate parthenogenesis (androcyclic)). Using microsatellites we show that genetic imprinting or selfish autosome behaviour does not occur in male M. persicae. Generally, loci segregated in Mendelian proportions in both sexes of cyclically parthenogenetic (holocyclic) clones. However, in androcyclic clones, segregation distortions consistently involved the same two autosomes. This is consistent with linkage of markers to deleterious mutations associated with a loss of sexual reproduction.

scholarly journals Epigenetic Regulation of Alternative mRNA Splicing in Dilated Cardiomyopathy

2020 ◽  
Vol 9 (5) ◽  
pp. 1499 ◽  
Author(s):  
Weng-Tein Gi ◽  
Jan Haas ◽  
Farbod Sedaghat-Hamedani ◽  
Elham Kayvanpour ◽  
Rewati Tappu ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Dilated Cardiomyopathy ◽  
Gene Expression Regulation ◽  
Strong Association ◽  
Mrna Splicing ◽  
Environment Interaction ◽  
Protein Coding ◽  
Genetic Imprinting ◽  
Non Coding Rna ◽  
Alternative Mrna Splicing

In recent years, the genetic architecture of dilated cardiomyopathy (DCM) has been more thoroughly elucidated. However, there is still insufficient knowledge on the modifiers and regulatory principles that lead to the failure of myocardial function. The current study investigates the association of epigenome-wide DNA methylation and alternative splicing, both of which are important regulatory principles in DCM. We analyzed screening and replication cohorts of cases and controls and identified distinct transcriptomic patterns in the myocardium that differ significantly, and we identified a strong association of intronic DNA methylation and flanking exons usage (p < 2 × 10−16). By combining differential exon usage (DEU) and differential methylation regions (DMR), we found a significant change of regulation in important sarcomeric and other DCM-associated pathways. Interestingly, inverse regulation of Titin antisense non-coding RNA transcript splicing and DNA methylation of a locus reciprocal to TTN substantiate these findings and indicate an additional role for non-protein-coding transcripts. In summary, this study highlights for the first time the close interrelationship between genetic imprinting by DNA methylation and the transport of this epigenetic information towards the dynamic mRNA splicing landscape. This expands our knowledge of the genome–environment interaction in DCM besides simple gene expression regulation.

A transgene insertional mutation at an imprinted locus in the mouse genome

Development ◽  
1990 ◽  
Vol 108 (Supplement) ◽  
pp. 73-79
Author(s):  
Julie A. DeLoia ◽  
Davor Solter
Keyword(s):  
Mouse Genome ◽  
Insertion Site ◽  
Parental Origin ◽  
Incomplete Penetrance ◽  
Endogenous Gene ◽  
Functional Differences ◽  
Genetic Imprinting ◽  
Pronuclear Transfer ◽  
Parent Of Origin ◽  
Transgene Insertion

Genetic imprinting in mice results in functional differences in the oocyte and spermatocyte genomes, as evidenced by both genetic and pronuclear transfer experiments. To gain insights into the molecular mechansims involved in the imprinting process, researchers have studied methylation phenotypes and expression of hemizygous transgenes associated with parental origin. In this report, we describe a transgenic mouse lineage in which expression of both the transgene and an endogenous gene at the insertion site are determined by the parent of origin. The mutation caused by transgene insertion shows variable expressivity and incomplete penetrance in addition to a modified dominant pattern of inheritance.

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