scholarly journals Sperm DNA Methylation Analysis in Swine Reveals Conserved and Species-Specific Methylation Patterns and Highlights an Altered Methylation at the GNAS Locus in Infertile Boars1

2014 ◽  
Vol 91 (6) ◽  
Author(s):  
Annabelle Congras ◽  
Martine Yerle-Bouissou ◽  
Alain Pinton ◽  
Florence Vignoles ◽  
Laurence Liaubet ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Methylation Analysis ◽  
Sperm Dna ◽  
Species Specific ◽  
Methylation Patterns ◽  
Dna Methylation Analysis ◽  
Sperm Dna Methylation

Alterations in sperm DNA methylation patterns at imprinted loci in two classes of infertility

2010 ◽  
Vol 94 (5) ◽  
pp. 1728-1733 ◽  
Author(s):  
Saher Sue Hammoud ◽  
Jahnvi Purwar ◽  
Christian Pflueger ◽  
Bradley R. Cairns ◽  
Douglas T. Carrell
Keyword(s):  
Dna Methylation ◽  
Sperm Dna ◽  
Methylation Patterns ◽  
Sperm Dna Methylation

scholarly journals Influence of tobacco cigarette heavy smoking on DNA methylation patterns and transcription levels of MAPK8IP3, GAA, ANXA2, PRRC2A, and PDE11A genes in human spermatozoa

2021 ◽  
Vol 26 (1) ◽  
Author(s):  
Mohammed M. Laqqan ◽  
Maged M. Yassin
Keyword(s):  
Dna Methylation ◽  
Semen Parameters ◽  
Global Dna Methylation ◽  
Transcription Level ◽  
Heavy Smoking ◽  
Tobacco Cigarette ◽  
Sperm Dna ◽  
Methylation Patterns ◽  
Heavy Smokers ◽  
Sperm Dna Methylation

Abstract Background Tobacco smoking is considered as one of the lifestyles factors that influence the sperm DNA methylation and global sperm DNA methylation and that may affect the sperm phenotype. This study was performed to investigate whether tobacco cigarette heavy smoking influences sperm DNA methylation patterns and semen parameters and to determine whether there is an alteration in the transcription level of MAPK8IP3, GAA, ANXA2, PRRC2A, and PDE11A genes in heavy smokers compared to non-smokers. Thirty samples were subjected to 450K arrays as a screening study to assess the variation in sperm DNA methylation levels between heavy smokers and non-smokers. Five CpG sites have the highest difference in methylation levels (cg07869343, cg05813498, cg09785377, cg06833981, and cg02745784), which are located in the MAPK8IP3, GAA, ANXA2, PRRC2A, and PDE11A genes, respectively, and were selected for further analysis using deep bisulfite sequencing in 280 independent samples (120 proven non-smokers and 160 heavy smokers) with a mean age of 33.8 ± 8.4 years. The global sperm DNA methylation, sperm DNA fragmentation, and chromatin non-condensation were evaluated also. Results A significant increase was found in the methylation level at seven, three, and seventeen CpGs within the GAA, ANXA2, and MAPK8IP3 genes amplicon, respectively (P< 0.01) in heavy smokers compared to non-smokers. Additionally, a significant increase was found in the methylation levels at all CpGs within PRRC2A and PDE11A gene amplicon (P< 0.01). A significant increase was found in the level of sperm chromatin non-condensation, DNA fragmentation, and global DNA methylation (P < 0.001) in heavy smokers compared to non-smokers. Conclusion These results indicate that tobacco cigarette smoking can alter the DNA methylation level at several CpGs, the status of global DNA methylation, and transcription level of the following genes “MAPK8IP3, GAA, ANXA2, PRRC2A, and PDE11A” in human spermatozoa. These findings may affect negatively semen parameters and men’s fertility.

scholarly journals Postmortem age estimation via DNA methylation analysis in buccal swabs from corpses in different stages of decomposition—a “proof of principle” study

2020 ◽  
Vol 135 (1) ◽  
pp. 167-173 ◽  
Author(s):  
Barbara Elisabeth Koop ◽  
Felix Mayer ◽  
Tanju Gündüz ◽  
Jacqueline Blum ◽  
Julia Becker ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Age Estimation ◽  
Buccal Swab ◽  
Methylation Analysis ◽  
Forensic Research ◽  
Epigenetic Age ◽  
Buccal Swabs ◽  
Validation Set ◽  
Methylation Patterns ◽  
Dna Methylation Analysis

AbstractAge estimation based on the analysis of DNA methylation patterns has become a focus of forensic research within the past few years. However, there is little data available regarding postmortem DNA methylation analysis yet, and literature mainly encompasses analysis of blood from corpses without any signs of decomposition. It is not entirely clear yet which other types of specimen are suitable for postmortem epigenetic age estimation, and if advanced decomposition may affect methylation patterns of CpG sites. In living persons, buccal swabs are an easily accessible source of DNA for epigenetic age estimation. In this work, the applicability of this approach (buccal swabs as source of DNA) under different postmortem conditions was tested. Methylation levels of PDE4C were investigated in buccal swab samples collected from 73 corpses (0–90 years old; mean: 51.2) in different stages of decomposition. Moreover, buccal swab samples from 142 living individuals (0–89 years old; mean 41.2) were analysed. As expected, methylation levels exhibited a high correlation with age in living individuals (training set: r2 = 0.87, validation set: r2 = 0.85). This was also the case in postmortem samples (r2 = 0.90), independent of the state of decomposition. Only in advanced putrified cases with extremely low DNA amounts, epigenetic age estimation was not possible. In conclusion, buccal swabs are a suitable and easy to collect source for DNA methylation analysis as long as sufficient amounts of DNA are present.

scholarly journals Genome-wide DNA methylation analysis pre- and post-lenalidomide treatment in patients with myelodysplastic syndrome with isolated deletion (5q)

2021 ◽  
Author(s):  
Anna Hecht ◽  
Julia A. Meyer ◽  
Johann-Christoph Jann ◽  
Katja Sockel ◽  
Aristoteles Giagounidis ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Myelodysplastic Syndrome ◽  
Target Genes ◽  
Methylation Status ◽  
Response To Treatment ◽  
Methylation Analysis ◽  
Relevant Effect ◽  
Genome Wide ◽  
Methylation Patterns ◽  
Dna Methylation Analysis

AbstractMyelodysplastic syndrome (MDS) with isolated deletion of chromosome 5q (MDS del5q) is a distinct subtype of MDS with quite favorable prognosis and excellent response to treatment with lenalidomide. Still, a relevant percentage of patients do not respond to lenalidomide and even experience progression to acute myeloid leukemia (AML). In this study, we aimed to investigate whether global DNA methylation patterns could predict response to lenalidomide. Genome-wide DNA methylation analysis using Illumina 450k methylation arrays was performed on n=51 patients with MDS del5q who were uniformly treated with lenalidomide in a prospective multicenter trial of the German MDS study group. To study potential direct effects of lenalidomide on DNA methylation, 17 paired samples pre- and post-treatment were analyzed. Our results revealed no relevant effect of lenalidomide on methylation status. Furthermore, methylation patterns prior to therapy could not predict lenalidomide response. However, methylation clustering identified a group of patients with a trend towards inferior overall survival. These patients showed hypermethylation of several interesting target genes, including genes of relevant signaling pathways, potentially indicating the evaluation of novel therapeutic targets.

scholarly journals Single-cell bisulfite sequencing of spermatozoa from lean and obese humans reveals potential for the transmission of epimutations

2021 ◽  
Author(s):  
Romain Barres ◽  
Emil Andersen ◽  
Wolf Reik ◽  
Stephen Clark ◽  
Lars Ingerslev ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Single Cell ◽  
Bisulfite Sequencing ◽  
Influence Strategies ◽  
Sperm Dna ◽  
Obese Subjects ◽  
Methylation Patterns ◽  
Epigenetic Signatures ◽  
Epigenetic Patterns ◽  
Sperm Dna Methylation

Epigenetic marks in gametes modulate developmental programming after fertilization. Spermatozoa from obese men exhibit distinct epigenetic signatures compared to lean men, however, whether epigenetic differences are concentrated in a sub-population of spermatozoa or spread across the ejaculate population is unknown. Here, by using whole-genome single-cell bisulfite sequencing on 87 motile spermatozoa from 8 individuals (4 lean and 4 obese), we found that spermatozoa within single ejaculates are highly heterogeneous and contain subsets of spermatozoa with marked imprinting defects. Comparing lean and obese subjects, we discovered methylation differences across two large CpG dense regions located near PPM1D and LINC01237. These findings confirm that sperm DNA methylation is altered in human obesity and indicate that single ejaculates contain subpopulations of spermatozoa carrying distinct DNA methylation patterns. Distinct epigenetic patterns of spermatozoa within an ejaculate may result in different intergenerational effects and therefore influence strategies aiming to prevent epigenetic-related disorders in the offspring.

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