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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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“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
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“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
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Global variation in copy number in the human genome
Redon, R., Ishikawa, S., Fitch, K. R., Feuk, L., Perry, G. H., Andrews, T. D., Fiegler, H., Shapero, M. H., Carson, A. R., Chen, W., et al. (2006) · Nature · doi:10.1038/nature05329 · Cited by 4,377
Detection of large-scale variation in the human genome
Iafrate, A. J., Feuk, L., Rivera, M. N., Listewnik, M. L., Donahoe, P. K., Qi, Y., Scherer, S. W., & Lee, C. (2004) · Nature Genetics · doi:10.1038/ng1416 · Cited by 2,892
Large-scale copy number polymorphism in the human genome
Sebat, J., Lakshmi, B., Troge, J., Alexander, J., Young, J., Lundin, P., Månér, S., Massa, H., Walker, M., Chi, M., et al. (2004) · Science · doi:10.1126/science.1098918 · Cited by 2,557
Roizen, N., & Patterson, D. (2003) · The Lancet · doi:10.1016/s0140-6736(03)12987-x · Cited by 1,386
Rovelet‐Lecrux, A., Hannequin, D., Raux, G., Meur, N. L., Laquerrière, A., Vital, A., Dumanchin‐Njock, C., Feuillette, S., Brice, A., Vercelletto, M., et al. (2005) · Nature Genetics · doi:10.1038/ng1718 · Cited by 1,284
Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome
Korbel, J. O., Urban, A. E., Affourtit, J. P., Godwin, B., Grubert, F., Simons, J. F., Kim, P. M., Palejev, D., Carriero, N. J., Du, L., et al. (2007) · Science · doi:10.1126/science.1149504 · Cited by 1,163
Self-citationDown syndrome phenotypes: the consequences of chromosomal imbalance.
Korenberg, J. R., Chen, X. N., Schipper, R. D., Sun, Z., Gonsky, R., Gerwehr, S., Carpenter, N. J., Däumer, C., Dignan, P. S. J., & Distèche, C. M. (1994) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.91.11.4997 · Cited by 784
Self-citationNFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21
Arron, J. R., Winslow, M. M., Polleri, A., Chang, C.-P., Wu, H., Gao, X., Neilson, J. R., Chen, L., Heit, J. J., Kim, S. K., et al. (2006) · Nature · doi:10.1038/nature04678 · Cited by 698
A new non-linear normalization method for reducing variability in DNA microarray experiments
Workman, C. T., Jensen, L. J., Jarmer, H. Ø., Berka, R. M., Gautier, L., Nielsen, H. B., Saxild, H. H., Nielsen, C. H., Brunak, S., & Knudsen, S. (2002) · Genome biology · doi:10.1186/gb-2002-3-9-research0048 · Cited by 531
Molecular Mapping of Twenty-Four Features of Down Syndrome on Chromosome 21
Delabar, J. M., Theophile, D., Rahmani, Z., Chettouh, Z., Blouin, J., Prieur, M., Noel, B., & Sinet, P. (1993) · European Journal of Human Genetics · doi:10.1159/000472398 · Cited by 454
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Tsao, C. W., Aday, A. W., Almarzooq, Z. I., Alonso, A., Beaton, A. Z., Bittencourt, M. S., Boehme, A. K., Buxton, A. E., Carson, A. P., Commodore-Mensah, Y., et al. (2022) · Circulation · doi:10.1161/cir.0000000000001052 · Cited by 5,987
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Chen, X., & Mobley, W. C. (2019) · Frontiers in Neuroscience · doi:10.3389/fnins.2019.00659 · Cited by 302
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Ballard, C. G., Mobley, W. C., Hardy, J., Williams, G. H., & Corbett, A. (2016) · The Lancet Neurology · doi:10.1016/s1474-4422(16)00063-6 · Cited by 289
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Cossec, J., Lavaur, J., Berman, D. E., Rivals, I., Hoischen, A., Stora, S., Ripoll, C., Mircher, C., Grattau, Y., Olivo‐Marín, J., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds142 · Cited by 106
Banno, K., Omori, S., Hirata, K., Nawa, N., Nakagawa, N., Nishimura, K., Ohtaka, M., Nakanishi, M., Sakuma, T., Yamamoto, T., et al. (2016) · Cell Reports · doi:10.1016/j.celrep.2016.04.031 · Cited by 100
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Self-citationEggermann, T., Schönherr, N., Spengler, S., Jäger, S., Denecke, B., Binder, G., & Baudis, M. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33217 · Cited by 92
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Pelleri, M. C., Cicchini, E., Locatelli, C., Vitale, L., Caracausi, M., Piovesan, A., Rocca, A., Poletti, G., Seri, M., Strippoli, P., et al. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw116 · Cited by 83
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Ng, A. P., Hyland, C. D., Metcalf, D., Carmichael, C., Loughran, S. J., Rago, L. D., Kile, B. T., & Alexander, W. S. (2009) · Blood · doi:10.1182/blood-2009-09-242107 · Cited by 72
Salehi, A., Ashford, J. W., & Mufson, E. J. (2015) · Current Alzheimer Research · doi:10.2174/1567205012999151021102914 · Cited by 79
Ovchinnikov, D. A., Korn, O., Virshup, I., Wells, C. A., & Wolvetang, E. J. (2018) · Stem Cell Reports · doi:10.1016/j.stemcr.2018.05.004 · Cited by 73
Li, H., Cherry, S. M., Klinedinst, D. K., DeLeon, V. B., Redig, J. K., Reshey, B., Chin, M. T., Sherman, S. L., Maslen, C. L., & Reeves, R. H. (2012) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.111.960872 · Cited by 73
Massive-Scale RNA-Seq Analysis of Non Ribosomal Transcriptome in Human Trisomy 21
Costa, V., Angelini, C., D’Apice, L., Mutarelli, M., Casamassimi, A., Sommese, L., Gallo, M. A., Aprile, M., Esposito, R., Leone, L., et al. (2011) · PLoS ONE · doi:10.1371/journal.pone.0018493 · Cited by 70
Consequences of aneuploidy in human fibroblasts with trisomy 21
Hwang, S., Cavaliere, P., Li, R., Zhu, L. J., Dephoure, N., & Torres, E. M. (2021) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2014723118 · Cited by 67
Ling, K., Hewitt, C., Tan, K.-L., Cheah, P.-S., Vidyadaran, S., Lai, M. I., Lee, H.-C., Simpson, K., Hyde, L., Pritchard, M. A., et al. (2014) · BMC Genomics · doi:10.1186/1471-2164-15-624 · Cited by 68
Chen, X., Sawa, M., & Mobley, W. C. (2017) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2017.10.341 · Cited by 66
Self-citationBonney, M. E., Moriya, H., & Amon, A. (2015) · Genes & Development · doi:10.1101/gad.261743.115 · Cited by 65
Mechanisms of X Chromosome Dosage Compensation
Ercan, S. (2014) · Journal of Genomics · doi:10.7150/jgen.10404 · Cited by 69
Epigenetics: The neglected key to minimize learning and memory deficits in Down syndrome
Dekker, A. D., Deyn, P. P. D., & Rots, M. G. (2014) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2014.05.004 · Cited by 64
Tangram: a comprehensive toolbox for mobile element insertion detection
Wu, J., Lee, W.-P., Ward, A. N., Walker, J. A., Konkel, M. K., Batzer, M. A., & Marth, G. (2014) · BMC Genomics · doi:10.1186/1471-2164-15-795 · Cited by 60
Chromatin accessibility promotes hematopoietic and leukemia stem cell activity
Cabal‐Hierro, L., van Galen, P., Prado, M. A., Higby, K. J., Togami, K., Mowery, C. T., Paulo, J. A., Xie, Y., Cejas, P., Furusawa, T., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-15221-z · Cited by 64
Down's syndrome-like cardiac developmental defects in embryos of the transchromosomic Tc1 mouse
Dunlevy, L. P. E., Bennett, M. W., Slender, A., Lana‐Elola, E., Tybulewicz, V. L. J., Fisher, E., & Mohun, T. J. (2010) · Cardiovascular Research · doi:10.1093/cvr/cvq193 · Cited by 58
Simmons, M. A., & Brueckner, M. K. (2017) · Current Opinion in Pediatrics · doi:10.1097/mop.0000000000000538 · Cited by 62
Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6
Yamamoto, T., Shimojima, K. Y., Nishizawa, T., Matsuo, M., Ito, M., & Imai, K. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33735 · Cited by 56
Maréchal, D., Brault, V., Léon, A., Martin, D., Pereira, P. L., Loaëc, N., Birling, M., Friocourt, G., Blondel, M., & Hérault, Y. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddy447 · Cited by 60
Malinge, S., Chlon, T. M., Doré, L. C., Ketterling, R. P., Tallman, M. S., Paietta, E. M., Gamis, A. S., Taub, J. W., Chou, S. T., Weiss, M. J., et al. (2013) · Blood · doi:10.1182/blood-2013-05-503011 · Cited by 55
Impact of increased APP gene dose in Down syndrome and the Dp16 mouse model
Sawa, M., Overk, C., Becker, A., Derse, D., Albay, R., Weldy, K., Salehi, A., Beach, T. G., Doran, E., Head, E., et al. (2022) · Alzheimer's & Dementia · doi:10.1002/alz.12463 · Cited by 54
Self-citationBlazek, J. D., Abeysekera, I., Li, J., & Roper, R. J. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv284 · Cited by 57
Genome-Wide Copy Number Analysis Uncovers a New HSCR Gene: NRG3
Tang, C. S.-M., Cheng, G., So, M., Yip, B. H. K., Miao, X., Wong, E. H.-M., Ngan, E., Lui, V. C., Song, Y., Chan, D. T.-M., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002687 · Cited by 54
Chen, X., Salehi, A., Pearn, M. L., Overk, C., Nguyen, P. D., Kleschevnikov, A. M., Maccecchini, M. L., & Mobley, W. C. (2020) · Alzheimer s & Dementia · doi:10.1002/alz.12185 · Cited by 55
Self-citationMenon, V., Ananthapadmanabhan, V., Swanson, S. K., Saini, S., Sesay, F. F., Yakovlev, V. A., Florens, L. A., DeCaprio, J. A., Washburn, M. P., Dozmorov, M. G., et al. (2019) · Cell Cycle · doi:10.1080/15384101.2019.1577525 · Cited by 61
Rafii, M. S., Kleschevnikov, A. M., Sawa, M., & Mobley, W. C. (2019) · Handbook of clinical neurology · doi:10.1016/b978-0-12-804766-8.00017-0 · Cited by 54
Genetic analysis of Down syndrome-associated heart defects in mice
Liu, C., Morishima, M., Yu, T., Matsui, S., Zhang, L., Fu, D., Pao, A., Costa, A. C. S., Gardiner, K., Cowell, J. K., et al. (2011) · Human Genetics · doi:10.1007/s00439-011-0980-2 · Cited by 52
Pathways to cognitive deficits in Down syndrome
Sturgeon, X., Le, T., Ahmed, M. M., & Gardiner, K. (2012) · Progress in brain research · doi:10.1016/b978-0-444-54299-1.00005-4 · Cited by 52
Abuhatzira, L., Shamir, A., Schones, D. E., Schäffer, A. A., & Bustin, M. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.m111.300541 · Cited by 53
Metadata
- 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
About these checks
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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