ArticleAmerican journal of human genetics1999
Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02381457 (SNP-based Microdeletion and Aneuploidy RegisTry), which is not on this map. Cited by 88 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.
SNP-based Microdeletion and Aneuploidy RegisTry
Who cites it
88 citing papers in PubMed, 281 citations in OpenAlex.
- Structural polymorphism and diversity of human segmental duplications.Nature genetics · 2025Article
- Structural polymorphism and diversity of human segmental duplications.bioRxiv : the preprint server for biology · 2024Article
- Epigenetics in rare neurological diseases.Frontiers in cell and developmental biology · 2024Review
- Generation of isogenic models of Angelman syndrome and Prader-Willi syndrome in CRISPR/Cas9-engineered human embryonic stem cells.PloS one · 2024Article
- Structural Variation Evolution at the 15q11-q13 Disease-Associated Locus.International journal of molecular sciences · 2023Article
- Prader-Willi and Angelman Syndromes: Mechanisms and Management.The application of clinical genetics · 2023Review
- Molecular and behavioral consequences of Ube3a gene overdosage in mice.JCI insight · 2022Article
- Genetic subtypes and phenotypic characteristics of 110 patients with Prader-Willi syndrome.Italian journal of pediatrics · 2022Article
- A report on seven fetal cases associated with 15q11-q13 microdeletion and microduplication.Molecular genetics & genomic medicine · 2021Article
- Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation.Genetics · 2021Article
- Transmission of a Novel Imprinting Center Deletion Associated With Prader-Willi Syndrome Through Three Generations of a Chinese Family: Case Presentation, Differential Diagnosis, and a Lesson Worth Thinking About.Frontiers in genetics · 2021Article
- Prader-Willi syndrome: reflections on seminal studies and future therapies.Open biology · 2020Review
- IPSC Models of Chromosome 15Q Imprinting Disorders: From Disease Modeling to Therapeutic Strategies.Advances in neurobiology · 2020Article
- The Role of Genetics and Oxidative Stress in the Etiology of Male Infertility-A Unifying Hypothesis?Frontiers in endocrinology · 2020Review
- Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes.European journal of human genetics : EJHG · 2019Article
- Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus.PLoS genetics · 2019Article
- Benefits and limitations of prenatal screening for Prader-Willi syndrome.Prenatal diagnosis · 2017Review
- The dilemma of diagnostic testing for Prader-Willi syndrome.Translational pediatrics · 2017Review
- Angelman syndrome - insights into a rare neurogenetic disorder.Nature reviews. Neurology · 2016Review
- Major influence of repetitive elements on disease-associated copy number variants (CNVs).Human genomics · 2016Review
28 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 7 institutions in 1 country.
Funding
Abstract
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct neurobehavioral disorders that most often arise from a 4-Mb deletion of chromosome 15q11-q13 during paternal or maternal gametogenesis, respectively. At a de novo frequency of approximately.67-1/10,000 births, these deletions represent a common structural chromosome change in the human genome. To elucidate the mechanism underlying these events, we characterized the regions that contain two proximal breakpoint clusters and a distal cluster. Novel DNA sequences potentially associated with the breakpoints were positionally cloned from YACs within or near these regions. Analyses of rodent-human somatic-cell hybrids, YAC contigs, and FISH of normal or rearranged chromosomes 15 identified duplicated sequences (the END repeats) at or near the breakpoints. The END-repeat units are derived from large genomic duplications of a novel gene (HERC2), many copies of which are transcriptionally active in germline tissues. One of five PWS/AS patients analyzed to date has an identifiable, rearranged HERC2 transcript derived from the deletion event. We postulate that the END repeats flanking 15q11-q13 mediate homologous recombination resulting in deletion. Furthermore, we propose that active transcription of these repeats in male and female germ cells may facilitate the homologous recombination process.
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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.