+ Site Statistics
+ Search Articles
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ PDF Full Text
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Translate
+ Recently Requested

Array-based DNA methylation profiling in male infertility reveals allele-specific DNA methylation in PIWIL1 and PIWIL2

Array-based DNA methylation profiling in male infertility reveals allele-specific DNA methylation in PIWIL1 and PIWIL2

Fertility and Sterility 101(4): 1097-1103.E1

To identify CpG sites differentially methylated in peripheral blood of men with idiopathic infertility due to impaired spermatogenesis as compared with fertile controls. DNA methylation profiling on peripheral blood samples using the HumanMethylation450 BeadChip (Illumina) in patients and controls, single-nucleotide polymorphism (SNP) typing by Sanger sequencing. University institute in cooperation with genetic and infertility clinics. 30 infertile men with normal CFTR and AZF tests and karyotype, and 10 fertile male controls. None. DNA methylation levels at CpG sites. We identified 471 CpGs (287 genes) as differentially methylated between patients and controls. These were significantly enriched for the gene ontology functions MHC class II receptor activity and piwi-interacting (piRNA) binding. The latter was associated with two methylation-sensitive SNPs in the genes PIWIL1 and PIWIL2, respectively, which showed significant allele distribution skewing in the infertile cohort. We found that 445 (94.5%) of 471 differentially methylated CpGs were associated with SNPs, but 26 (15 genes) were not genomically templated, including the ENO1, MTA2, BRSK2, and LBX2 genes previously associated with fertility and spermatogenesis. Our study identifies surrogate DNA methylation markers for idiopathic infertility in peripheral blood and suggests that allele-specific DNA methylation differences at regulatory sites of genes involved in piRNA regulation are associated with disturbed spermatogenesis.

(PDF emailed within 0-6 h: $19.90)

Accession: 051635716

Download citation: RISBibTeXText

PMID: 24524831

DOI: 10.1016/j.fertnstert.2013.12.054

Related references

Array-based DNA methylation profiling reveals peripheral blood differential methylation in male infertility. Fertility and Sterility 2019, 2019

Differential methylation hybridization array of endometrial cancers reveals two novel cancer-specific methylation markers. Clinical Cancer Research 13(10): 2882-2889, 2007

EFEMP1 as a novel DNA methylation marker for prostate cancer: array-based DNA methylation and expression profiling. Clinical Cancer Research 17(13): 4523-4530, 2011

HOXA9, ISL1 and ALDH1A3 methylation patterns as prognostic markers for nonmuscle invasive bladder cancer: array-based DNA methylation and expression profiling. International Journal of Cancer 133(5): 1135-1142, 2013

Array-based profiling of reference-independent methylation status (aPRIMES) identifies frequent promoter methylation and consecutive downregulation of ZIC2 in pediatric medulloblastoma. Nucleic Acids Research 35(7): E51, 2007

ZNF492 and GPR149 methylation patterns as prognostic markers for clear cell renal cell carcinoma: Array‑based DNA methylation profiling. Oncology Reports 2019, 2019

Sperm DNA methylation analysis in swine reveals conserved and species-specific methylation patterns and highlights an altered methylation at the GNAS locus in infertile boars. Biology of Reproduction 91(6): 137-137, 2015

Methylation profiling of normal individuals reveals mosaic promoter methylation of cancer-associated genes. Oncotarget 3(4): 450-461, 2012

DNA Methylation Profiling Reveals Correlation of Differential Methylation Patterns with Gene Expression in Human Epilepsy. Journal of Molecular Neuroscience 59(1): 68-77, 2017

DNA methylation profiling reveals differences in the 3 human monocyte subsets and identifies uremia to induce DNA methylation changes during differentiation. Epigenetics 11(4): 259-272, 2017

O-026 Genome-wide methylation profiling by MCIp-Seq reveals aberrant DNA methylation patterns in childhood MDS with GATA2-deficiency. Leukemia Research 37: S20-S21, 2013

DNA methylation profiling in Barrett's esophagus and esophageal adenocarcinoma reveals unique methylation signatures and molecular subclasses. Epigenetics 6(12): 1403-1412, 2012

Genome-wide DNA Methylation Profiling Reveals Methylation Markers Associated with 3q Gain for Detection of Cervical Precancer and Cancer. Clinical Cancer Research 23(14): 3813-3822, 2017

Allele-specific methylation analysis on upstream promoter region of H19 by methylation-specific PCR with confronting two-pair primers. International Journal of Oncology 25(5): 1273-1278, 2004

Genome-wide differential methylation analyses identifies methylation signatures of male infertility. Human Reproduction 33(12): 2256-2267, 2018