ArticleHuman genetics1988
The CpG dinucleotide and human genetic disease.
Article in Human genetics, 1988. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 321 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
321 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- IDH mutation, glioma immunogenicity, and therapeutic challenge of primary mismatch repair deficient IDH-mutant astrocytoma PMMRDIA: a systematic review.Molecular oncology · 2024Pooled it
- Pooled it
- Parallels between bipolar disorder and ATP1A3-related diseases: a window into the investigation of lithium for alternating hemiplegia of childhood.Orphanet journal of rare diseases · 2026Review
- Hereditary Polyneuropathies in the Era of Precision Medicine: Genetic Complexity and Emerging Strategies.Genes · 2026Review
- Meltome Atlas of Arabidopsis thaliana proteome: a melting temperature-based identification of heat and cold resistant proteins using in-silico approach.BMC genomics · 2025Article
- New insights into the structure and dynamics of the epigenetic modifications on DNA.RSC chemical biology · 2025Article
- Language Modelling Techniques for Analysing the Impact of Human Genetic Variation.Bioinformatics and biology insights · 2025Review
- Human DNA polymerase ε is a source of C>T mutations at CpG dinucleotides.Nature genetics · 2024Article
- Evolutionary preservation of CpG dinucleotides in RAG1 may elucidate the relatively high rate of methylation-mediated mutagenesis of RAG1 transposase.Immunologic research · 2024Article
- Evidence of epigenetic landscape shifts in mucopolysaccharidosis IIIB and IVA.Scientific reports · 2024Article
- Estimation of the Age of the Kashubian-Specific PathogenicHuman mutation · 2024Article
- Acute intermittent porphyria: a disease with low penetrance and high heterogeneity.Frontiers in genetics · 2024Review
- Epigenetics of Early Cardiometabolic Disease: Mechanisms and Precision Medicine.Circulation research · 2023Review
- Rare genetic variants underlie outlying levels of DNA methylation and gene-expression.Human molecular genetics · 2023Article
- Investigation on the high recurrence of the ATTRv-causing transthyretin variant Val142Ile in central Italy.European journal of human genetics : EJHG · 2023Article
- A Comprehensive Genetic Analysis of Slovenian Families with Multiple Cases of Orofacial Clefts Reveals Novel Variants in the GenesInternational journal of molecular sciences · 2023Article
- A regionally adapted HRM-based technique to screen MMACHC carriers for methylmalonic acidemia with homocystinuria in Shandong Province, China.Intractable & rare diseases research · 2023Article
- Phenotypic Diversity in GNAO1 Patients: A Comprehensive Overview of Variants and Phenotypes.Human mutation · 2023Review
- Role of Germline Predisposition to Therapy-Related Myeloid Neoplasms.Current hematologic malignancy reports · 2022Review
- Characterisation of a common hotspot variant in acute intermittent porphyria sheds light on the mechanism of hydroxymethylbilane synthase function.FEBS open bio · 2022Article
261 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Reports of single base-pair mutations within gene coding regions causing human genetic disease were collated. Thirty-five per cent of mutations were found to have occurred within CpG dinucleotides. Over 90% of these mutations were C----T or G----A transitions, which thus occur within coding regions at a frequency 42-fold higher than that predicted from random mutations. These findings are consistent with methylation-induced deamination of 5-methyl cytosine and suggest that methylation of DNA within coding regions may contribute significantly to the incidence of human genetic disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.