The genetic architecture of down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies
Open accessAbstract
Down syndrome (DS), or trisomy 21, is a common disorder associated with several complex clinical phenotypes. Although several hypotheses have been put forward, it is unclear as to whether particular gene loci on chromosome 21 (HSA21) are sufficient to cause DS and its associated features. Here we present a high-resolution genetic map of DS phenotypes based on an analysis of 30 subjects carrying rare segmental trisomies of various regions of HSA21. By using state-of-the-art genomics technologies we mapped segmental trisomies at exon-level resolution and identified discrete regions of 1.8–16.3 Mb likely to be involved in the development of 8 DS phenotypes, 4 of which are congenital malformations, including acute megakaryocytic leukemia, transient myeloproliferative disorder, Hirschsprung disease, duodenal stenosis, imperforate anus, severe mental retardation, DS-Alzheimer Disease, and DS-specific congenital heart disease (DSCHD). Our DS-phenotypic maps located DSCHD to a <2-Mb interval. Furthermore, the map enabled us to present evidence against the necessary involvement of other loci as well as specific hypotheses that have been put forward in relation to the etiology of DS—i.e., the presence of a single DS consensus region and the sufficiency of DSCR1 and DYRK1A , or APP , in causing several severe DS phenotypes. Our study demonstrates the value of combining advanced genomics with cohorts of rare patients for studying DS, a prototype for the role of copy-number variation in complex disease.
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Early onset AD invariably develops in Down syndrome due mainly to a third copy of APP present on trisomic chromosome 21.
“a disorder in which an early onset form of AD invariably develops due mainly to a third copy of APP present on trisomic chromosome 21 (Korbel et al., 2009;Doran et al., 2017;Colacurcio et al., 2018).”
From Lysosomal Dysfunction in Down Syndrome Is APP-Dependent and Mediated by APP-βCTF (C99) (2019) · cites this paper as Korbel et al., 2009
The Results and Discussion links increased Alzheimer’s disease risk in Down syndrome to increased APP copy number, but it does not say the disease develops invariably. It describes a 65-year-old subject with Down syndrome who had neither dementia nor amyloid accumulation, contrary to the claim of inevitable early-onset disease. Page numbers are not supplied in our copy. (LLM, conf=0.86)
Checked by a reasoning model — may be wrong.
Experimental — accuracy not yet measuredA targeted gene or set of genes hypothesized to have a major influence on a phenotype due to overexpression in DS may be a therapeutic focus.
“Alternatively, a targeted gene or set of genes hypothesized to have a major influence on a phenotype due to overexpression in DS may be a therapeutic focus (Korbel et al., 2009; Lyle et al., 2009).”
From Sex-specific developmental alterations in DYRK1A expression in the brain of a Down syndrome mouse model (2024) · cites this paper as Korbel et al., 2009
The Results and Discussion link increased chromosome 21 gene dosage to Down syndrome phenotypes and describe using the map to refine candidate genes. They do not propose targeting those genes as a therapeutic approach; the therapeutic-focus portion of the claim is not supported by our copy. (LLM, conf=0.82)
Experimental — accuracy not yet measured
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- Authors
- Korbel, J. O., Tirosh-Wagner, T., Urban, A. E., Chen, X.-N., Kasowski, M., Dai, L., Grubert, F., Erdman, C., Gao, M. C., Lange, K., Sobel, E. M., Barlow, G. M., Aylsworth, A. S., Carpenter, N. J., Clark, R. D., Cohen, M. Y., Doran, E., Falik-Zaccai, T., Lewin, S. O., Lott, I. T., McGillivray, B. C., Moeschler, J. B., Pettenati, M. J., Pueschel, S. M., Rao, K. W., Shaffer, L. G., Shohat, M., Van Riper, A. J., Warburton, D., Weissman, S., Gerstein, M. B., Snyder, M., & Korenberg, J. R.
- Affiliations
- European Bioinformatics Institute (GB)
- Medical Genetics Institute, Cedars–Sinai Medical Center, Los Angeles, CA 90048;
- Yale University (US)
- Cedars-Sinai Medical Center (US)
- University of California, Los Angeles (US)
- University of North Carolina at Chapel Hill (US)
- Center for Genetic Testing, Tulsa, OK 74136;
- Loma Linda University Medical Center (US)
- Department of Genetics, Kinderzentrum Munich, 81377 Munich, Germany;
- University of California, Irvine Medical Center (US)
- Institute of Human Genetics, Western Galilee Hospital, Nahariya 22100, Israel;
- University of Utah (US)
- University of British Columbia (CA)
- Dartmouth–Hitchcock Medical Center (US)
- Wake Forest University Health Sciences (US)
- Rhode Island Hospital (US)
- Signature Genomic Laboratories, Spokane, WA 99207;
- Tel Aviv University (IL)
- Genetics Department, Kaiser Permanente Medical Offices, Sacramento, CA 95815;
- Columbia University (US)
- ORCID
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2009-07-21
- Volume
- 106
- Issue
- 29
- Pages
- 12031-12036
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC2709665
- OpenAlex
- W1964683842
- Cited by
- 399
- References
- 47
- Citations by year
- 2026: 11 · 2025: 16 · 2024: 16 · 2023: 20 · 2022: 22 · 2021: 27 · 2020: 24 · 2019: 21 · 2018: 11 · 2017: 14 · 2016: 26 · 2015: 28 · 2014: 28 · 2013: 30 · 2012: 38
- FWCI
- 34.96
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Carolina Digital Repository (University of North Carolina at Chapel Hill) (submittedVersion)
- UNC Libraries
- Funders
- U.S. Department of Energy
- European Commission
- National Institutes of Health
- National Institute of General Medical Sciences (T32GM007205)
- Topics
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
- Keywords
- Down syndrome, chromosome 21, gene mapping, copy number variation, congenital heart disease, Hirschsprung disease, duodenal stenosis, acute megakaryoblastic leukemia, transient myeloproliferative disorder, intellectual disability, Alzheimer's disease, DSCR1, DYRK1A, APP, etiology
- MeSH terms
- Chromosome Mapping, Chromosomes, Human, Pair 21, Down Syndrome, Humans, Infant, Phenotype, Trisomy, Meta-Analysis as Topic
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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