ArticlePloS one2014
G-quadruplex structures and CpG methylation cause drop-out of the maternal allele in polymerase chain reaction amplification of the imprinted MEST gene promoter.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 39 citations in OpenAlex.
- A Species-SpecificBiology · 2026Article
- DNA 5mC methylation inhibits the formation of G-quadruplex structures in the genome.Genome biology · 2025Article
- Beyond Structure: Methylation Fine-Tunes Stability and Folding Kinetics of bcl2Mid G-Quadruplex.Angewandte Chemie (International ed. in English) · 2025Article
- G-quadruplex forming regions in GCK and TM6SF2 are targets for differential DNA methylation in metabolic disease and hepatocellular carcinoma patients.Scientific reports · 2024Article
- G4access identifies G-quadruplexes and their associations with open chromatin and imprinting control regions.Nature genetics · 2023Article
- G-quadruplex formation at humanBiochemistry and biophysics reports · 2023Article
- Site-specific decreases in DNA methylation in replicating cells following exposure to oxidative stress.Human molecular genetics · 2023Article
- Quantitative detection of CpG methylation level on G-quadruplex and i-motif-forming DNA by recombinase polymerase amplification.Analytical and bioanalytical chemistry · 2022Article
- Article
- The Dynamic Regulation of G-Quadruplex DNA Structures by Cytosine Methylation.International journal of molecular sciences · 2022Review
- Article
- Effects of CpG methylation on the thermal stability ofBBA advances · 2021Article
- Epigenetic Modulation of Chromatin States and Gene Expression by G-Quadruplex Structures.International journal of molecular sciences · 2020Review
- CpG Methylation Changes G-Quadruplex Structures Derived from Gene Promoters and Interaction with VEGF and SP1.Molecules (Basel, Switzerland) · 2018Article
- Nanopore sequencing of full-length BRCA1 mRNA transcripts reveals co-occurrence of known exon skipping events.Breast cancer research : BCR · 2017Article
- Allelic Dropout During Polymerase Chain Reaction due to G-Quadruplex Structures and DNA Methylation Is Widespread at Imprinted Human Loci.G3 (Bethesda, Md.) · 2017Article
- Article
- In silico analysis of regulatory and structural motifs of the ovine HSP90AA1 gene.Cell stress & chaperones · 2016Article
- Article
Corrections and comments
- Erratum issued
Authors and funding
11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We observed apparent non-Mendelian behaviour of alleles when genotyping a region in a CpG island at the 5' end of the maternally imprinted human MEST isoform. This region contains three single nucleotide polymorphisms (SNPs) in total linkage disequilibrium, such that only two haplotypes occur in the human population. Only one haplotype was detectable in each subject, never both, despite the use of multiple primers and several genotyping methods. We observed that this region contains motifs capable of forming several G-quadruplex structures. Circular dichroism spectroscopy and native polyacrylamide gel electrophoresis confirmed that at least three G-quadruplexes form in vitro in the presence of potassium ions, and one of these structures has a Tm of greater than 99°C in polymerase chain reaction (PCR) buffer. We demonstrate that it is the methylated maternal allele that is always lost during PCR amplification, and that formation of G-quadruplexes and presence of methylated cytosines both contributed to this phenomenon. This observed parent-of-origin specific allelic drop-out has important implications for analysis of imprinted genes in research and diagnostic settings.
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