ReviewGenes2015
Genetic mosaics and the germ line lineage.
Review in Genes, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
What it found
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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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
17 citing papers in PubMed, 42 citations in OpenAlex.
- Characterizing the Rates and Patterns of De Novo Germline Mutations in the Aye-Aye (Daubentonia madagascariensis).Molecular biology and evolution · 2025Article
- Genetic Analysis of 17q Terminal Partial Trisomy.Clinical case reports · 2024Article
- Characterizing the rates and patterns ofbioRxiv : the preprint server for biology · 2024Article
- Transgenerational transmission of post-zygotic mutations suggests symmetric contribution of first two blastomeres to human germline.Nature communications · 2024Article
- Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics.NPJ genomic medicine · 2024Article
- Transgenerational transmission of post-zygotic mutations suggests symmetric contribution of first two blastomeres to human germline.bioRxiv : the preprint server for biology · 2024Article
- Parental mosaicism for apparent de novo genetic variants: Scope, detection, and counseling challenges.Prenatal diagnosis · 2022Review
- Sperm mosaicism: implications for genomic diversity and disease.Trends in genetics : TIG · 2021Review
- Article
- The genetic basis of disease.Essays in biochemistry · 2018Review
- Multiple transmissions of de novo mutations in families.Nature genetics · 2018Article
- Article
- Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene.American journal of medical genetics. Part A · 2017Article
- Article
- An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family.BMC neurology · 2016Article
- Mutation rates and the evolution of germline structure.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2016Article
- A Rare Novel Copy Number Variation of Xp22.33-p11.22 Duplication is Associated with Congenital Heart Defects.Chinese medical journal · 2015Article
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 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic mosaics provide information about cellular lineages that is otherwise difficult to obtain, especially in humans. De novo mutations act as cell markers, allowing the tracing of developmental trajectories of all descendants of the cell in which the new mutation arises. De novo mutations may arise at any time during development but are relatively rare. They have usually been observed through medical ascertainment, when the mutation causes unusual clinical signs or symptoms. Mutational events can include aneuploidies, large chromosomal rearrangements, copy number variants, or point mutations. In this review we focus primarily on the analysis of point mutations and their utility in addressing questions of germ line versus somatic lineages. Genetic mosaics demonstrate that the germ line and soma diverge early in development, since there are many examples of combined somatic and germ line mosaicism for de novo mutations. The occurrence of simultaneous mosaicism in both the germ line and soma also shows that the germ line is not strictly clonal but arises from at least two, and possibly multiple, cells in the embryo with different ancestries. Whole genome or exome DNA sequencing technologies promise to expand the range of studies of genetic mosaics, as de novo mutations can now be identified through sequencing alone in the absence of a medical ascertainment. These technologies have been used to study mutation patterns in nuclear families and in monozygotic twins, and in animal model developmental studies, but not yet for extensive cell lineage studies in humans.
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.