ArticleAmerican journal of human genetics1998
Methylation levels at selected CpG sites in the factor VIII and FGFR3 genes, in mature female and male germ cells: implications for male-driven evolution.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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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
15 citing papers in PubMed, 42 citations in OpenAlex.
- Mutational Profile in Romanian Patients with Hemophilia A.International journal of molecular sciences · 2024Article
- CpG Island Definition and Methylation Mapping of the T2T-YAO Genome.Genomics, proteomics & bioinformatics · 2024Article
- PCGIMA: developing the web server for human position-defined CpG islands methylation analysis.Frontiers in genetics · 2024Article
- Translational readthrough atHaematologica · 2023Article
- Insights into the Molecular Genetic of Hemophilia A and Hemophilia B: The Relevance of Genetic Testing in Routine Clinical Practice.Hamostaseologie · 2022Review
- Understanding what determines the frequency and pattern of human germline mutations.Nature reviews. Genetics · 2009Review
- Programmed genetic instability: a tumor-permissive mechanism for maintaining the evolvability of higher species through methylation-dependent mutation of DNA repair genes in the male germ line.Molecular biology and evolution · 2008Article
- Characteristics, causes and evolutionary consequences of male-biased mutation.Proceedings. Biological sciences · 2007Review
- New insight into the molecular basis of hemophilia A.International journal of hematology · 2006Review
- Cytosine methylation is not the major factor inducing CpG dinucleotide deficiency in bacterial genomes.Journal of molecular evolution · 2004Article
- Analysis and accurate quantification of CpG methylation by MALDI mass spectrometry.Nucleic acids research · 2003Article
- Rett syndrome and MeCP2: linking epigenetics and neuronal function.American journal of human genetics · 2002Review
- The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect.Proceedings of the National Academy of Sciences of the United States of America · 2002Article
- A rapid, quantitative, non-radioactive bisulfite-SNuPE- IP RP HPLC assay for methylation analysis at specific CpG sites.Nucleic acids research · 2002Article
- Somatic mosaicism in hemophilia A: a fairly common event.American journal of human genetics · 2001Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Transitional mutations at CpG dinucleotides account for approximately a third of all point mutations. These mutations probably arise through spontaneous deamination of 5-methylcytosine. Studies of CpG mutation rates in disease-linked genes, such as factor VIII and FGFR3, have indicated that they more frequently originate in male than in female germ cells. It has been speculated that these sex-biased mutation rates might be a consequence of sex-specific methylation differences between the female and the male germ lines. Using the bisulfite-based genomic-sequencing method, we investigated the methylation status of the human factor VIII and FGFR3 genes in mature male and female germ cells. With the exception of a single CpG, both genes were found to be equally and highly methylated in oocytes and spermatocytes. Whereas these observations strongly support the notion that DNA methylation is the major determining factor for recurrent CpG germ-line mutations in patients with hemophilia and achondroplasia, the higher mutation rate in the male germ line is apparently not a simple reflection of sex-specific methylation differences.
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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.