Unknown,Transcriptomics,Genomics,Proteomics

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


ABSTRACT: Array-based DNA methylation profiling in peripheral blood leukocytes of 30 infertile men with impaired spermatogenesis as compared to 10 fertile men using the Illumina Infinium HumanMethylation 450k Bead Chip reveald 471 CpG sites (287 genes) to be differentially methylated between both groups. These CpG loci were significantly enriched for the gene ontology functions MHC class II receptor activity and piRNA binding. The latter was associated with two methylation-sensitive SNPs in the genes PIWIL1 and PIWIL2, respectivly, which showed significant allele distribution skewing in the infertile cohort. 445/471 differentially methylated CpGs were associated with SNPs, but 26 (15 genes) were not genomically templated and included the ENO1, MTA2, BRSK2 and LBX2 genes previously associated with fertility and spermatogenesis. The study identifies surrogate DNA methylation markers for idiopathic infertility in peripheral blood and suggests allele-specific DNA methylation differences at regulatory sites of genes involved in piRNA regulation to be associated with disturbed spermatogenesis. Bisulfite converted DNA of peripheral blood leukocytes from 30 infertile men and 10 fertile men as controls were hybridized to the Illumina Infinium HumanMethylation 450k Bead Chip.

ORGANISM(S): Homo sapiens

SUBMITTER: Susanne Bens 

PROVIDER: E-GEOD-51245 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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

Friemel Carolin C   Ammerpohl Ole O   Gutwein Jana J   Schmutzler Andreas G AG   Caliebe Almuth A   Kautza Monika M   von Otte Sören S   Siebert Reiner R   Bens Susanne S  

Fertility and sterility 20140210 4


<h4>Objective</h4>To identify CpG sites differentially methylated in peripheral blood of men with idiopathic infertility due to impaired spermatogenesis as compared with fertile controls.<h4>Design</h4>DNA methylation profiling on peripheral blood samples using the HumanMethylation450 BeadChip (Illumina) in patients and controls, single-nucleotide polymorphism (SNP) typing by Sanger sequencing.<h4>Setting</h4>University institute in cooperation with genetic and infertility clinics.<h4>Patient(s)  ...[more]

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