ArticleJournal of applied genetics2015
Genomic instability in the PARK2 locus is associated with Parkinson's disease.
Article in Journal of applied genetics, 2015. 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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Who cites it
20 citing papers in PubMed, 42 citations in OpenAlex.
- Genome-wide association study of copy number variations in Parkinson's disease.NPJ Parkinson's disease · 2026Article
- Mechanisms and genomic implications of break-induced replication.Nature structural & molecular biology · 2025Review
- Large-scale copy number variant analysis in genes linked to Parkinson´s disease.NPJ Parkinson's disease · 2025Article
- Genome-wide association study of copy number variations in Parkinson's disease.medRxiv : the preprint server for health sciences · 2025Article
- The Utility of Long-Read Sequencing in Diagnosing Early Onset Parkinson's Disease.Annals of neurology · 2025Article
- Case Report: Practical approach to differentiating juvenile parkinsonism of genetic cause and drug-induced parkinsonism in adolescents: a case series and literature review.Frontiers in genetics · 2025Article
- The Utility of Long-Read Sequencing in Diagnosing Genetic Autosomal Recessive Parkinson's Disease: a genetic screening study.medRxiv : the preprint server for health sciences · 2024Article
- Long-Read Sequencing Resolves a Complex Structural Variant in PRKN Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2023Article
- Genetics and Pathogenesis of Parkinson's Syndrome.Annual review of pathology · 2023Review
- Application of Next-Generation Sequencing in Neurodegenerative Diseases: Opportunities and Challenges.Neuromolecular medicine · 2021Review
- Common Threads: Aphidicolin-Inducible and Folate-Sensitive Fragile Sites in the Human Genome.Frontiers in genetics · 2021Review
- Levodopa-responsive dystonia caused by biallelicBrain communications · 2021Article
- A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations.Molecular neurobiology · 2018Article
- Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.Genome biology · 2017Article
- Copy number variability in Parkinson's disease: assembling the puzzle through a systems biology approach.Human genetics · 2017Review
- Fragility Extraordinaire: Unsolved Mysteries of Chromosome Fragile Sites.Advances in experimental medicine and biology · 2017Review
- Developmental Coordination Disorder in a Patient with Mental Disability and a Mild Phenotype Carrying Terminal 6q26-qter Deletion.Frontiers in genetics · 2017Article
- Mutation Analysis of Consanguineous Moroccan Patients with Parkinson's Disease Combining Microarray and Gene Panel.Frontiers in neurology · 2017Article
- Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD.Neurology. Genetics · 2016Article
- Genome-Wide Association Study between Single Nucleotide Polymorphisms and Flight Speed in Nellore Cattle.PloS one · 2016Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Parkinson's disease (PD) is a common neurodegenerative disorder affecting mostly elderly people, although there is a group of patients developing so-called early-onset PD (EOPD). Mutations in the PARK2 gene are a common cause of autosomal recessive EOPD. PARK2 belongs to the family of extremely large human genes which are often localised in genomic common fragile sites (CFSs) and exhibit gross instability. PARK2 is located in the centre of FRA6E, the third most mutation-susceptible CFS of the human genome. The gene encompasses a region of 1.3 Mbp and, among its mutations, large rearrangements of single or multiple exons account for around 50%. We performed an analysis of the PARK2 gene in a group of 344 PD patients with EOPD and classical form of the disease. Copy number changes were first identified using multiplex ligation probe amplification (MLPA), with their ranges characterised by array comparative genomic hybridisation (aCGH). Exact breakpoints were mapped using direct sequencing. Rearrangements were found in eight subjects, including five deletions and three duplications. Rearrangements were mostly non-recurrent and no repetitive sequences or extended homologies were identified in the regions flanking breakpoint junctions. However, in most cases, 1-3 bp microhomologies were present, strongly suggesting that microhomology-mediated mechanisms, specifically non-homologous end joining (NHEJ) and fork stalling and template switching (FoSTeS)/microhomology-mediated break-induced replication (MMBIR), are predominantly involved in the rearrangement processes in this genomic region.
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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.