The origins, patterns and implications of human spontaneous mutation
Abstract
The germline mutation rate in human males, especially older males, is generally much higher than in females, mainly because in males there are many more germ-cell divisions. However, there are some exceptions and many variations. Base substitutions, insertion-deletions, repeat expansions and chromosomal changes each follow different rules. Evidence from evolutionary sequence data indicates that the overall rate of deleterious mutation may be high enough to have a large effect on human well-being. But there are ways in which the impact of deleterious mutations can be mitigated.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Most germline mutations occur during mitotic division of spermatogonial cells, a process with a constant rate in the gonad.
“Most germline mutations happen during mitotic cell division of spermatogonial cells, a process that occurs at a constant rate in the gonad (Crow, 2000).”
From Getting to the cores of autism (2019) · cites this paper as Crow, 2000
The citation lists haven’t been fetched yet
References 61 · Cited by 928
- Authors
- Crow, J. F.
- Affiliations
- University of Wisconsin–Madison (US)
- Corresponding author
- Crow, James F.
- Venue
- Nature Reviews Genetics
- Published
- 2000-10
- Volume
- 1
- Issue
- 1
- Pages
- 40-47
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- OpenAlex
- W2077751281
- Cited by
- 928
- References
- 61
- Citations by year
- 2026: 18 · 2025: 19 · 2024: 26 · 2023: 28 · 2022: 31 · 2021: 39 · 2020: 27 · 2019: 39 · 2018: 70 · 2017: 43 · 2016: 50 · 2015: 42 · 2014: 35 · 2013: 50 · 2012: 50
- FWCI
- 2.16
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Reviews Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Evolution and Genetic Dynamics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Keywords
- spontaneous mutation, germline mutation rate, base substitutions, insertion-deletion mutations, repeat expansion, chromosomal rearrangements, deleterious mutations, human evolution, mutational burden
- MeSH terms
- Female, Humans, Male, Paternal Age, Selection, Genetic, Germ-Line Mutation
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
