ReviewAnnual review of genomics and human genetics2016
Germline Stem Cell Competition, Mutation Hot Spots, Genetic Disorders, and Older Fathers.
Review in Annual review of genomics and human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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
19 citing papers in PubMed, 45 citations in OpenAlex.
- Prevalence and genetics of "de novo" MEN2 syndromes.The Journal of clinical endocrinology and metabolism · 2025Article
- Male aging in germ cells: What are we inheriting?Genetics and molecular biology · 2025Article
- Exploring FGFR3 Mutations in the Male Germline: Implications for Clonal Germline Expansions and Paternal Age-Related Dysplasias.Genome biology and evolution · 2024Article
- Exploring the Micro-Mosaic Landscape ofGenes · 2024Article
- MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males.BMC medicine · 2023Article
- Measurement of FGFR3 signaling at the cell membrane via total internal reflection fluorescence microscopy to compare the activation of FGFR3 mutants.The Journal of biological chemistry · 2023Article
- Article
- Myasthenia gravis complicating the surgical management of achondroplasia: a case-based update.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2022Review
- Discovery of an unusually high number of de novo mutations in sperm of older men using duplex sequencing.Genome research · 2022Article
- Pathogenic postzygotic mosaicism in the tyrosine receptor kinase pathway: potential unidentified human disease hidden away in a few cells.The FEBS journal · 2021Review
- Experimental evidence for effects of sexual selection on condition-dependent mutation rates.Nature ecology & evolution · 2020Article
- A case of germline mosaicism for a 7q32.1q33 deletion in a sperm donor: consequences on pregnancy follow-up and recommendations.Basic and clinical andrology · 2020Article
- Achondroplasia: a comprehensive clinical review.Orphanet journal of rare diseases · 2019Review
- The paternal age at conception effect on offspring telomere length: mechanistic, comparative and adaptive perspectives.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2018Article
- Intercellular competition and the inevitability of multicellular aging.Proceedings of the National Academy of Sciences of the United States of America · 2017Article
- Gonadal mosaicism and non-invasive prenatal diagnosis for 'reassurance' in sporadic paternal age effect (PAE) disorders.Prenatal diagnosis · 2017Article
- Current Care and Investigational Therapies in Achondroplasia.Current osteoporosis reports · 2017Review
- New insights into the generation and role of de novo mutations in health and disease.Genome biology · 2016Review
- Human Germline Mutation and the Erratic Evolutionary Clock.PLoS biology · 2016Article
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 at 1 institution in 1 country.
Funding
Abstract
Some de novo human mutations arise at frequencies far exceeding the genome average mutation rate. Examples include the common mutations at one or a few sites in the genes that cause achondroplasia, Apert syndrome, multiple endocrine neoplasia type 2B, and Noonan syndrome. These mutations are recurrent, provide a gain of function, are paternally derived, and are more likely to be transmitted as the father ages. Recent experiments have tested whether the high mutation frequencies are due to an elevated mutation rate per cell division, as expected, or to an advantage of the mutant spermatogonial stem cells over wild-type stem cells. The evidence, which includes the surprising discovery of testis mutation clusters, rules out the former model but not the latter. We propose how the mutations might alter spermatogonial stem cell function and discuss how germline selection contributes to the paternal age effect, the human mutational load, and adaptive evolution.
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.