ArticleAmerican journal of human genetics2010
Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines.
Article in American journal of human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers.
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Who cites it
49 citing papers in PubMed, 95 citations in OpenAlex.
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- The Utility of Long-Read Sequencing in Diagnosing Early Onset Parkinson's Disease.Annals of neurology · 2025Article
- Machine Learning for Detecting and Analyzing Chromoanagenesis Events.Methods in molecular biology (Clifton, N.J.) · 2025Article
- DNA replication in early mammalian embryos is patterned, predisposing lamina-associated regions to fragility.Nature communications · 2024Article
- Pathogenesis of Parkinson's disease: from hints from monogenic familial PD to biomarkers.Journal of neural transmission (Vienna, Austria : 1996) · 2024Review
- DNA replication in early mammalian embryos is patterned, predisposing lamina-associated regions to fragility.bioRxiv : the preprint server for biology · 2023Article
- Insights into common fragile site instability: DNA replication challenges at DNA repeat sequences.Emerging topics in life sciences · 2023Article
- Long-Read Sequencing Resolves a Complex Structural Variant in PRKN Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2023Article
- Article
- PLA2G6-associated late-onset parkinsonism in a Sudanese family.Annals of clinical and translational neurology · 2023Article
- Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy.Human mutation · 2022Article
- Quaking but not parkin is the major tumor suppressor in 6q deleted region in glioblastoma.Frontiers in cell and developmental biology · 2022Article
- Chromoanagenesis Landscape in 10,000 TCGA Patients.Cancers · 2021Article
- The genomic landscape of 85 advanced neuroendocrine neoplasms reveals subtype-heterogeneity and potential therapeutic targets.Nature communications · 2021Article
- The Duchenne muscular dystrophy gene and cancer.Cellular oncology (Dordrecht, Netherlands) · 2021Review
- U5 snRNA Interactions With Exons Ensure Splicing Precision.Frontiers in genetics · 2021Article
- Levodopa-responsive dystonia caused by biallelicBrain communications · 2021Article
- Impaired Replication Timing Promotes Tissue-Specific Expression of Common Fragile Sites.Genes · 2020Article
- Exonic rearrangements in DMD in Chinese Han individuals affected with Duchenne and Becker muscular dystrophies.Human mutation · 2020Article
- Review
Corrections and comments
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Authors and funding
14 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Common fragile sites (CFSs) are specific chromosome regions that exhibit an increased frequency of breaks when cells are exposed to a DNA-replication inhibitor such as aphidicolin. PARK2 and DMD, the causative genes for autosomal-recessive juvenile Parkinsonism and Duchenne and Becker muscular dystrophy, respectively, are two very large genes that are located within aphidicolin-induced CFSs. Gross rearrangements within these two genes are frequently observed as the causative mutations for these diseases, and similar alterations within the large fragile sites that surround these genes are frequently observed in cancer cells. To elucidate the molecular mechanisms underlying this fragility, we performed a custom-designed high-density comparative genomic hybridization analysis to determine the junction sequences of approximately 500 breakpoints in germ cell lines and cancer cell lines involving PARK2 or DMD. The sequence signatures where these breakpoints occur share some similar features both in germ cell lines and in cancer cell lines. Detailed analyses of these structures revealed that microhomologies are predominantly involved in rearrangement processes. Furthermore, breakpoint-clustering regions coincide with the latest-replicating region and with large nuclear-lamina-associated domains and are flanked by the highest-flexibility peaks and R/G band boundaries, suggesting that factors affecting replication timing collectively contribute to the vulnerability for rearrangement in both germ cell and somatic cell lines.
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