ArticleAmerican journal of human genetics1995
Somatic intragenic recombination within the mutated locus BLM can correct the high sister-chromatid exchange phenotype of Bloom syndrome cells.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 44 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.
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Who cites it
44 citing papers in PubMed, 135 citations in OpenAlex.
- Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size.Cells · 2023Review
- Revertant Mosaicism in Genodermatoses: Natural Gene Therapy Right before Your Eyes.Biomedicines · 2022Review
- The CDK1-TOPBP1-PLK1 axis regulates the Bloom's syndrome helicase BLM to suppress crossover recombination in somatic cells.Science advances · 2022Article
- Functions of BLM Helicase in Cells: Is It Acting Like a Double-Edged Sword?Frontiers in genetics · 2021Review
- POLQ suppresses interhomolog recombination and loss of heterozygosity at targeted DNA breaks.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Structural Aspects of DNA Repair and Recombination in Crop Improvement.Frontiers in genetics · 2020Review
- Somatic genetic rescue in Mendelian haematopoietic diseases.Nature reviews. Genetics · 2019Review
- Chromosomal inversions as a hidden disease-modifying factor for somatic recombination phenotypes.JCI insight · 2018Article
- BLM helicase suppresses recombination at G-quadruplex motifs in transcribed genes.Nature communications · 2018Article
- A "late-but-fitter revertant cell" explains the high frequency of revertant mosaicism in epidermolysis bullosa.PloS one · 2018Article
- Mosaicism in Cutaneous Disorders.Annual review of genetics · 2017Review
- Genetics of Short Stature.Endocrinology and metabolism clinics of North America · 2017Review
- Revertant mosaicism in genodermatoses.Cellular and molecular life sciences : CMLS · 2017Review
- Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition.Molecular syndromology · 2017Review
- Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.American journal of human genetics · 2016Article
- A rigorous approach for selection of optimal variant sets for carrier screening with demonstration of clinical utility.Molecular genetics & genomic medicine · 2015Article
- The nuclease FAN1 is involved in DNA crosslink repair in Arabidopsis thaliana independently of the nuclease MUS81.Nucleic acids research · 2015Article
- Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti.The Journal of clinical investigation · 2015Article
- Rosa26-GFP direct repeat (RaDR-GFP) mice reveal tissue- and age-dependence of homologous recombination in mammals in vivo.PLoS genetics · 2014Article
- Patient-specific naturally gene-reverted induced pluripotent stem cells in recessive dystrophic epidermolysis bullosa.The Journal of investigative dermatology · 2014Article
Corrections and comments
- Commented on by
- Erratum issued
Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
Cells from persons with Bloom syndrome feature an elevated rate of sister-chromatid exchange (SCE). However, in some affected persons a minority of blood lymphocytes have a normal SCE rate. Persons who inherit the Bloom syndrome gene BLM identical by descent from a common ancestor very rarely exhibit this high-SCE/low-SCE mosaicism; conversely, mosaicism arises predominantly in persons who do not share a common ancestor. These population data suggested that most persons with Bloom syndrome in whom the exceptional low-SCE cells arise are not homozygous for a mutation at BLM but instead are compound heterozygotes. Following this clue, we carried out a genotype analysis of loci syntenic with BLM in 11 persons who exhibited mosaicism. In five of them, polymorphic loci distal to BLM that were heterozygous in their high-SCE cells had become homozygous in their low-SCE cells, whereas heterozygous loci proximal to BLM remained heterozygous. These observations are interpreted to mean that intragenic recombination between paternally derived and maternally derived mutated sites within BLM can generate a functionally wild-type gene and that low-SCE lymphocytes are progeny of a somatic cell in which such intragenic recombination had occurred.
Indexed as
Identifiers
7485150PMC1801389W1543165706What 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.