ArticleProceedings of the National Academy of Sciences of the United States of America2002
The unexpected landscape of in vivo somatic mutation in a human epithelial cell lineage.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 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.
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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
20 citing papers in PubMed, 43 citations in OpenAlex.
- The Impact of Autosomal Dominant Polycystic Kidney Disease in Children: A Nephrological, Nutritional, and Psychological Point of View.Biomedicines · 2024Review
- Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2.European journal of human genetics : EJHG · 2016Article
- Clusters of Multiple Mutations: Incidence and Molecular Mechanisms.Annual review of genetics · 2015Review
- Molecular mechanisms of disease-causing missense mutations.Journal of molecular biology · 2013Review
- Large chromosome deletions, duplications, and gene conversion events accumulate with age in normal human colon crypts.Aging cell · 2013Article
- Somatic mutations in aging, cancer and neurodegeneration.Mechanisms of ageing and development · 2012Review
- Damage-induced localized hypermutability.Cell cycle (Georgetown, Tex.) · 2011Article
- Correlated evolution of nearby residues in Drosophilid proteins.PLoS genetics · 2011Article
- Gene conversion in human genetic disease.Genes · 2010Article
- Human base excision repair creates a bias toward -1 frameshift mutations.The Journal of biological chemistry · 2010Article
- Polycystic liver diseases.Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver · 2010Review
- Hypermutability of damaged single-strand DNA formed at double-strand breaks and uncapped telomeres in yeast Saccharomyces cerevisiae.PLoS genetics · 2008Article
- Consequences of impaired purine recycling in dopaminergic neurons.Neuroscience · 2008Article
- Mutations in clusters and showers.Proceedings of the National Academy of Sciences of the United States of America · 2007Article
- Evidence for mutation showers.Proceedings of the National Academy of Sciences of the United States of America · 2007Article
- ADPKD: molecular characterization and quest for treatment.Clinical and experimental nephrology · 2005Review
- Clusters of mutations from transient hypermutability.Proceedings of the National Academy of Sciences of the United States of America · 2005Article
- PKD1 intron 21: triplex DNA formation and effect on replication.Nucleic acids research · 2004Article
- Genome dynamics in aging mice.Genome research · 2002Article
- Too many mutants with multiple mutations.Critical reviews in biochemistry and molecular biologyReview
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Few data exist on somatic mutation in the epithelial cell lineages that play a central role in human biology and disease. To delineate the "landscape" of somatic mutation in a human epithelial cell lineage, we determined the frequency and molecular nature of somatic mutations occurring in vivo in the X-linked HPRT gene of kidney tubular epithelial cells. Kidney epithelial mutants were frequent (range 0.5 to 4.2 x 10(-4)) and contained a high proportion of unreported HPRT base substitutions, -1-bp deletions and multiple mutations. This spectrum of somatic mutation differed from HPRT mutations identified in human peripheral blood T lymphocytes and from germ-line HPRT mutations identified in Lesch-Nyhan syndrome or hyperuricemia patients. Our results indicate that DNA damage and mutagenesis may have unusual or mechanistically interesting features in kidney tubular epithelium, and that somatic mutation may play a more important role in human kidney disease than has been previously appreciated.
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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.