ArticleAmerican journal of human genetics1997
Constitutively methylated CpG dinucleotides as mutation hot spots in the retinoblastoma gene (RB1).
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
32 citing papers in PubMed, 2 syntheses or guidelines pooled it, 86 citations in OpenAlex.
- Genetic landscape of congenital pouch colon: systematic review and functional enrichment study.Pediatric surgery international · 2024Pooled it
- RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database.BMC genetics · 2005Pooled it
- Recurrent somatic mutation and progerin expression in early vascular aging of chronic kidney disease.Nature aging · 2025Article
- Characterization of a Novel Thermostable DNA Lyase Used To Prepare DNA for Next-Generation Sequencing.Chemical research in toxicology · 2023Article
- Measurement of deaminated cytosine adducts in DNA using a novel hybrid thymine DNA glycosylase.The Journal of biological chemistry · 2022Article
- Sex and Race-Related DNA Methylation Changes in Hepatocellular Carcinoma.International journal of molecular sciences · 2021Review
- Cytosine Methylation Affects the Mutability of Neighboring Nucleotides in Germline and Soma.Genetics · 2020Article
- Mitochondrial stress triggers a pro-survival response through epigenetic modifications of nuclear DNA.Cellular and molecular life sciences : CMLS · 2019Article
- De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm.BMC genomics · 2017Article
- A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.American journal of human genetics · 2017Article
- How does inflammation drive mutagenesis in colorectal cancer?Trends in cancer research · 2017Article
- Effect of Cysteamine on Mutant ASL Proteins with Cysteine for Arginine Substitutions.Molecular diagnosis & therapy · 2016Article
- Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort.Molecular vision · 2016Article
- Genetic screening in patients with Retinoblastoma in Israel.Familial cancer · 2015Article
- Article
- Novel Insights on Hantavirus Evolution: The Dichotomy in Evolutionary Pressures Acting on Different Hantavirus Segments.PloS one · 2015Article
- Monochorionic-monoamniotic twins discordant for VATER association.Journal of perinatology : official journal of the California Perinatal Association · 2014Article
- DNA methylation data analysis and its application to cancer research.Epigenomics · 2013Review
- Article
- RB1 mutations and second primary malignancies after hereditary retinoblastoma.Familial cancer · 2012Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A wide spectrum of mutations, ranging from point mutations to large deletions, have been described in the retinoblastoma gene (RB1). Mutations have been found throughout the gene; however, these genetic alterations do not appear to be homogeneously distributed. In particular, a significant proportion of disease-causing mutations results in the premature termination of protein synthesis, and the majority of these mutations occur as C-->T transitions at CpG dinucleotides (CpGs). Such recurrent CpG mutations, including those found in RB1, are likely the result of the deamination of 5-methylcytosine within these CpGs. In the present study, we used the sodiumbisulfite conversion method to detect cytosine methylation in representative exons of RB1. We analyzed DNA from a variety of tissues and specifically targeted CGA codons in RB1, where recurrent premature termination mutations have been reported. We found that DNA methylation within RB1 exons 8, 14, 25, and 27 appeared to be restricted to CpGs, including six CGA codons. Other codons containing methylated cytosines have not been reported to be mutated. Therefore, disease-causing mutations at CpGs in RB1 appear to be determined by several factors, including the constitutive presence of DNA methylation at cytosines within CpGs, the specific codon within which the methylated cytosine is located, and the particular region of the gene within which that codon resides.
Indexed as
Identifiers
What OpenQuestion holds
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.