Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome.
paper
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- Authors
- RodrÃguez-Santiago, BenjamÃn; Malats, Núria; Rothman, Nathaniel; Armengol, LluÃs; Garcia-Closas, Montse; Kogevinas, Manolis; Villa, Olaya; Hutchinson, Amy; Earl, Julie; Marenne, Gaëlle; Jacobs, Kevin; Rico, Daniel; Tardón, Adonina; Carrato, Alfredo; Thomas, Gilles; Valencia, Alfonso; Silverman, Debra; Real, Francisco X; Chanock, Stephen J; Pérez-Jurado, Luis A
- Year
- 2010
- Journal
- American journal of human genetics
- PMID
- 20598279
- DOI
- 10.1016/j.ajhg.2010.06.002
- PMCID
- PMC2896781
Mosaicism is defined as the coexistence of cells with different genetic composition within an individual, caused by postzygotic somatic mutation. Although somatic mosaicism for chromosomal abnormalities is a well-established cause of developmental and somatic disorders and has also been detected in different tissues, its frequency and extent in the adult normal population are still unknown. We provide here a genome-wide survey of mosaic genomic variation obtained by analyzing Illumina 1M SNP array data from blood or buccal DNA samples of 1991 adult individuals from the Spanish Bladder Cancer/EPICURO genome-wide association study. We found mosaic abnormalities in autosomes in 1.7% of samples, including 23 segmental uniparental disomies, 8 complete trisomies, and 11 large (1.5-37 Mb) copy-number variants. Alterations were observed across the different autosomes with recurrent events in chromosomes 9 and 20. No case-control differences were found in the frequency of events or the percentage of cells affected, thus indicating that most rearrangements found are not central to the development of bladder cancer. However, five out of six events tested were detected in both blood and bladder tissue from the same individual, indicating an early developmental origin. The high cellular frequency of the anomalies detected and their presence in normal adult individuals suggest that this type of mosaicism is a widespread phenomenon in the human genome. Somatic mosaicism should be considered in the expanding repertoire of inter- and intraindividual genetic variation, some of which may cause somatic human diseases but also contribute to modifying inherited disorders and/or late-onset multifactorial traits.
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In this knowledge base
| Title | Year | PMID |
|---|---|---|
| Detectable clonal mosaicism and its relationship to aging and cancer. | 2012 | 22561519 |
| Detectable clonal mosaicism from birth to old age and its relationship to cancer. | 2012 | 22561516 |
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| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| Estimation of mosaic loss of Y chromosome cell fraction with genotyping arrays lacking coverage in the pseudoautosomal region. | Zhou W et al. | — | 2025 | → |
| Maternal mixed UPD3 and a homozygous PLXNA1 c.2497G>C variant in a fetus with severe anomalies. | Ye Y et al. | — | 2025 | → |
| Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2. | Pérez-Jurado LA et al. | — | 2024 | → |
| Characteristics and mechanisms of mosaicism in prenatal diagnosis cases by application of SNP array. | Zhou L et al. | — | 2023 | → |
| Detection of Mosaic Absence of Heterozygosity (AOH) Using Low-Pass Whole Genome Sequencing in Prenatal Diagnosis: A Preliminary Report. | Lü Y et al. | — | 2023 | → |
| Mosaic chromosomal alterations in peripheral blood leukocytes of children in sub-Saharan Africa. | Zhou W et al. | — | 2023 | → |
| Alterations of presynaptic proteins in autism spectrum disorder. | Yeo XY et al. | — | 2022 | → |
| The inconsistency between two major aneuploidy-screening platforms-single-nucleotide polymorphism array and next-generation sequencing-in the detection of embryo mosaicism. | Chen D et al. | — | 2022 | → |
| Fetal Megalencephaly with Cortical Dysplasia at 18 Gestational Weeks Related to Paternal UPD Mosaicism with <i>PTEN</i> Mutation. | Pooh RK et al. | — | 2021 | → |
| Incident disease associations with mosaic chromosomal alterations on autosomes, X and Y chromosomes: insights from a phenome-wide association study in the UK Biobank. | Lin SH et al. | — | 2021 | → |
| Pre-HCT mosaicism increases relapse risk and lowers survival in acute lymphoblastic leukemia patients post-unrelated HCT. | Wang Y et al. | — | 2021 | → |
| Prenatal diagnosis of 7 cases with uniparental disomy by utilization of single nucleotide polymorphism array. | Zhou L et al. | — | 2021 | → |
| A six-attribute classification of genetic mosaicism. | MartÃnez-Glez V et al. | — | 2020 | → |
| Clonal chromosomal mosaicism and loss of chromosome Y in men are risk factors for SARS-CoV-2 vulnerability in the elderly | Pérez-Jurado LA et al. | — | 2020 | — |
| Extreme Downregulation of Chromosome Y and Cancer Risk in Men. | Cáceres A et al. | — | 2020 | → |
| MADloy: robust detection of mosaic loss of chromosome Y from genotype-array-intensity data. | González JR et al. | — | 2020 | → |
| The Future of Livestock Management: A Review of Real-Time Portable Sequencing Applied to Livestock. | Lamb HJ et al. | — | 2020 | → |
| Ontogenetic and Pathogenetic Views on Somatic Chromosomal Mosaicism. | Iourov IY et al. | — | 2019 | → |
| Quantitative analysis of somatically acquired and constitutive uniparental disomy in gastrointestinal cancers. | Torabi K et al. | — | 2019 | → |
| Reply to 'Mosaic loss of chromosome Y in leukocytes matters'. | Zhou W et al. | — | 2019 | → |
| Predictors of mosaic chromosome Y loss and associations with mortality in the UK Biobank. | Loftfield E et al. | — | 2018 | → |
| Characterization of breakpoint regions of large structural autosomal mosaic events. | Machiela MJ et al. | — | 2017 | → |
| Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia. | Reina-Castillón J et al. | — | 2017 | → |
| Novel genes involved in severe early-onset obesity revealed by rare copy number and sequence variants. | Serra-Juhé C et al. | — | 2017 | → |
| The ageing genome, clonal mosaicism and chronic disease. | Machiela MJ et al. | — | 2017 | → |
| Therapy-related myeloid neoplasms: when genetics and environment collide. | McNerney ME et al. | — | 2017 | → |
| Extensive Hidden Genomic Mosaicism Revealed in Normal Tissue. | Vattathil S et al. | — | 2016 | → |
| Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome. | Machiela MJ et al. | — | 2016 | → |
| Identification of novel genetic causes of Rett syndrome-like phenotypes. | Lopes F et al. | — | 2016 | → |
| Mosaic 13q14 deletions in peripheral leukocytes of non-hematologic cancer cases and healthy controls. | Machiela MJ et al. | — | 2016 | → |
| Somatically acquired structural genetic differences: a longitudinal study of elderly Danish twins. | Magaard Koldby K et al. | — | 2016 | → |
| Somatic mosaicism: on the road to cancer. | Fernández LC et al. | — | 2016 | → |
| Toward the integration of Omics data in epidemiological studies: still a "long and winding road". | López de Maturana E et al. | — | 2016 | → |
| Absence of heterozygosity due to template switching during replicative rearrangements. | Carvalho CM et al. | — | 2015 | → |
| A decade of structural variants: description, history and methods to detect structural variation. | EscaramÃs G et al. | — | 2015 | → |
| Characterization of large structural genetic mosaicism in human autosomes. | Machiela MJ et al. | — | 2015 | → |
| Creation of Mice Bearing a Partial Duplication of HPRT Gene Marked with a GFP Gene and Detection of Revertant Cells In Situ as GFP-Positive Somatic Cells. | Noda A et al. | — | 2015 | → |
| Genomic Copy Number Variation Affecting Genes Involved in the Cell Cycle Pathway: Implications for Somatic Mosaicism. | Iourov IY et al. | — | 2015 | → |
| Mosaicism for trisomy 21: a review. | Papavassiliou P et al. | — | 2015 | → |
| Signatures of post-zygotic structural genetic aberrations in the cells of histologically normal breast tissue that can predispose to sporadic breast cancer. | Forsberg LA et al. | — | 2015 | → |
| Somatic mosaicism for copy-neutral loss of heterozygosity and DNA copy number variations in the human genome. | Žilina O et al. | — | 2015 | → |
| The UBC-40 Urothelial Bladder Cancer cell line index: a genomic resource for functional studies. | Earl J et al. | — | 2015 | → |
| Acquired chromosomal anomalies in chronic lymphocytic leukemia patients compared with more than 50,000 quasi-normal participants. | Laurie CC et al. | — | 2014 | → |
| A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders. | King DA et al. | — | 2014 | → |
| A prenatal case with discrepant findings between non-invasive prenatal testing and fetal genetic testings. | Pan Q et al. | — | 2014 | → |
| Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer. | Forsberg LA et al. | — | 2014 | → |
| Prioritization of neurodevelopmental disease genes by discovery of new mutations. | Hoischen A et al. | — | 2014 | → |
| Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases. | Pham J et al. | — | 2014 | → |
| Somatic mosaicism in esophageal atresia. | Bednarczyk D et al. | — | 2014 | → |
| Somatic mosaicism in the human genome. | Freed D et al. | — | 2014 | → |
| The epigenetic landscape of aneuploidy: constitutional mosaicism leading the way? | Davidsson J | — | 2014 | → |
| A genomic view of mosaicism and human disease. | Biesecker LG et al. | — | 2013 | → |
| Association between large detectable clonal mosaicism and type 2 diabetes with vascular complications. | Bonnefond A et al. | — | 2013 | → |
| Challenging the axiom: does the occurrence of oncogenic mutations truly limit cancer development with age? | DeGregori J | — | 2013 | → |
| Clinical Correlates of Autosomal Chromosomal Abnormalities in an Electronic Medical Record-Linked Genome-Wide Association Study: A Case Series. | Jouni H et al. | — | 2013 | → |
| Clinical Correlates of Autosomal Chromosomal Abnormalities in an Electronic Medical Record-Linked Genome-Wide Association Study: A Case Series. | Jouni H et al. | — | 2013 | → |
| Confirmation of the reported association of clonal chromosomal mosaicism with an increased risk of incident hematologic cancer. | Schick UM et al. | — | 2013 | → |
| Detectable clonal mosaicism in the human genome. | Machiela MJ et al. | — | 2013 | → |
| Many mosaic mutations. | Foulkes WD et al. | — | 2013 | → |
| Mosaic copy number variation in schizophrenia. | Ruderfer DM et al. | — | 2013 | → |
| Post-zygotic and inter-individual structural genetic variation in a presumptive enhancer element of the locus between the IL10Rβ and IFNAR1 genes. | Razzaghian HR et al. | — | 2013 | → |
| Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy. | Balbás-MartÃnez C et al. | — | 2013 | → |
| Self-correction of chromosomal abnormalities in human preimplantation embryos and embryonic stem cells. | Bazrgar M et al. | — | 2013 | → |
| Somatic alpha-synuclein mutations in Parkinson's disease: hypothesis and preliminary data. | Proukakis C et al. | — | 2013 | → |
| Somatic uniparental isodisomy explains multifocality of glomuvenous malformations. | Amyere M et al. | — | 2013 | → |
| Uniparental disomy analysis in trios using genome-wide SNP array and whole-genome sequencing data imply segmental uniparental isodisomy in general populations. | Sasaki K et al. | — | 2013 | → |
| Age-related somatic structural changes in the nuclear genome of human blood cells. | Forsberg LA et al. | — | 2012 | → |
| Behavior genetics and postgenomics. | Charney E | — | 2012 | → |
| BPES with atypical premature ovarian insufficiency, and evidence of mitotic recombination, in a woman with trisomy X and a translocation t(3;11)(q22.3;q14.1). | Schlade-Bartusiak K et al. | — | 2012 | → |
| Chromosomal variation in lymphoblastoid cell lines. | Shirley MD et al. | — | 2012 | → |
| Contribution of rare copy number variants to isolated human malformations. | Serra-Juhé C et al. | — | 2012 | → |
| Detectable clonal mosaicism and its relationship to aging and cancer. | Jacobs KB et al. | — | 2012 | → |
| Detectable clonal mosaicism from birth to old age and its relationship to cancer. | Laurie CC et al. | — | 2012 | → |
| Exploring the variation within. | Macosko EZ et al. | — | 2012 | → |
| Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder. | Vogt J et al. | — | 2012 | → |
| Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism. | Robberecht C et al. | — | 2012 | → |
| A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data. | González JR et al. | — | 2011 | → |
| Aneuploidy in the human cleavage stage embryo. | Mantzouratou A et al. | — | 2011 | → |
| A parallel SNP array study of genomic aberrations associated with mental retardation in patients and general population in Estonia. | Männik K et al. | — | 2011 | → |
| Breakage-fusion-bridge cycles leading to inv dup del occur in human cleavage stage embryos. | Voet T et al. | — | 2011 | → |
| Convergent mechanisms of somatic mutations in polycythemia vera. | Wang K et al. | — | 2011 | → |
| Copy-number changes in prenatal diagnosis. | Strassberg M et al. | — | 2011 | → |
| De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. | Hoischen A et al. | — | 2011 | → |
| Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research. | Hochstenbach R et al. | — | 2011 | → |
| Genome structural variation discovery and genotyping. | Alkan C et al. | — | 2011 | → |
| Mosaic trisomy 13: understanding origin using SNP array. | Jinawath N et al. | — | 2011 | → |
| Small supernumerary marker chromosomes and uniparental disomy have a story to tell. | Liehr T et al. | — | 2011 | → |
| Somatic mosaicism in healthy human tissues. | De S | — | 2011 | → |