ArticlePsychiatric genetics2009
Long tandem repeats as a form of genomic copy number variation: structure and length polymorphism of a chromosome 5p repeat in control and schizophrenia populations.
Article in Psychiatric genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 22 citations in OpenAlex.
- Gene-Environment Interactions in Repeat Expansion Diseases: Mechanisms of Environmentally Induced Repeat Instability.Biomedicines · 2023Review
- Epigenetic patterns in a complete human genome.Science (New York, N.Y.) · 2022Article
- Emerging roles of macrosatellite repeats in genome organization and disease development.Epigenetics · 2017Review
- Polycomb repressive complex 1 provides a molecular explanation for repeat copy number dependency in FSHD muscular dystrophy.Human molecular genetics · 2017Article
- Influence of Repressive Histone and DNA Methylation upon D4Z4 Transcription in Non-Myogenic Cells.PloS one · 2016Article
- Estimation of the RNU2 macrosatellite mutation rate by BRCA1 mutation tracing.Nucleic acids research · 2014Article
- A novel tRNA variable number tandem repeat at human chromosome 1q23.3 is implicated as a boundary element based on conservation of a CTCF motif in mouse.Nucleic acids research · 2014Article
- Sequencing studies in human genetics: design and interpretation.Nature reviews. Genetics · 2013Review
- Article
- The macrosatellite DXZ4 mediates CTCF-dependent long-range intrachromosomal interactions on the human inactive X chromosome.Human molecular genetics · 2012Article
- The mouse DXZ4 homolog retains Ctcf binding and proximity to Pls3 despite substantial organizational differences compared to the primate macrosatellite.Genome biology · 2012Article
- Article
- Epigenetic regulation of the X-chromosomal macrosatellite repeat encoding for the cancer/testis gene CT47.European journal of human genetics : EJHG · 2012Article
- Variation in array size, monomer composition and expression of the macrosatellite DXZ4.PloS one · 2011Article
- Characterization of DXZ4 conservation in primates implies important functional roles for CTCF binding, array expression and tandem repeat organization on the X chromosome.Genome biology · 2011Article
- Expression, tandem repeat copy number variation and stability of four macrosatellite arrays in the human genome.BMC genomics · 2010Article
Corrections and comments
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Authors and funding
16 authors at 7 institutions in 3 countries.
Funding
Abstract
objectivesGenomic copy number variations (CNVs) are a major form of variation in the human genome and play an etiologic role in several neuropsychiatric diseases. Tandem repeats, particularly with long (>50 bp) repeat units, are a relatively common yet underexplored type of CNV that may significantly contribute to human genomic variation and disease risk. We therefore carried out a pilot experiment to explore the potential role of long tandem repeats as risk factors in psychiatric disorders.
methodsA bacterial artificial chromosome-based array comparative genomic hybridization (aCGH) platform was used to examine CNVs in genomic DNA from 34 probands with schizophrenia or schizoaffective disorder.
resultsThe aCGH screen detected an apparent deletion on 5p15.1 in two probands, caused by the presence in each proband of two low copy number (short) alleles of a tandem repeat that ranges in length from fewer than 10 to greater than 50 3.4 kb units in the population examined. Short alleles partially segregate with schizophrenia in a small number of families, though linkage was not significant. An association study showed no significant difference in repeat length between 406 schizophrenia cases and 392 controls.
conclusionAlthough we did not demonstrate a relationship between the 5p15.1 repeat and schizophrenia, our results illustrate that long tandem repeats represent an intriguing type of genetic variation that have not been studied in earlier connection with psychiatric illness. aCGH can detect a small subset of these repeats, but systematic investigation will require the development of specific arrays and improved analytical methods.
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