The DOI matches its Crossref record; 31 of the 31 references it cites were found in a registry or an index.
A genome-wide comparison of recent chimpanzee and human segmental duplications
Abstract
We present a global comparison of differences in content of segmental duplication between human and chimpanzee, and determine that 33% of human duplications (> 94% sequence identity) are not duplicated in chimpanzee, including some human disease-causing duplications. Combining experimental and computational approaches, we estimate a genomic duplication rate of 4-5 megabases per million years since divergence. These changes have resulted in gene expression differences between the species. In terms of numbers of base pairs affected, we determine that de novo duplication has contributed most significantly to differences between the species, followed by deletion of ancestral duplications. Post-speciation gene conversion accounts for less than 10% of recent segmental duplication. Chimpanzee-specific hyperexpansion (> 100 copies) of particular segments of DNA have resulted in marked quantitative differences and alterations in the genome landscape between chimpanzee and human. Almost all of the most extreme differences relate to changes in chromosome structure, including the emergence of African great ape subterminal heterochromatin. Nevertheless, base per base, large segmental duplication events have had a greater impact (2.7%) in altering the genomic landscape of these two species than single-base-pair substitution (1.2%).
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“since the chimpanzee chromosomes 2A and 2B are capped with hyper-expanded segmental duplications and tandem repeats (StSats) not existing in the human genome [8, 40], we cannot measure the magnitude of the accumulation of BCS in those fragments comparing to the human reference.”
From Revised time estimation of the ancestral human chromosome 2 fusion (2022) · cites this paper as [8]
Citations
Cites
Finishing the euchromatic sequence of the human genome
International Human Genome Sequencing Consortium (2004) · Nature · doi:10.1038/nature03001 · Cited by 4,971
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
Initial sequence of the chimpanzee genome and comparison with the human genome
The Chimpanzee Sequencing and Analysis Consortium (2005) · Nature · doi:10.1038/nature04072 · Cited by 2,459
Recent Segmental Duplications in the Human Genome
Bailey, J. A., Gu, Z., Clark, R. A., Reinert, K., Samonte, R. V., Schwartz, S., Adams, M. D., Myers, E. W., Li, P. W., & Eichler, E. E. (2002) · Science · doi:10.1126/science.1072047 · Cited by 1,355
Self-citationThe Influence of CCL3L1 Gene-Containing Segmental Duplications on HIV-1/AIDS Susceptibility
Gonzalez, E., Kulkarni, H. R., Bolivar, H., Mangano, A. M., Sanchez, R., Catano, G., Nibbs, R. J. B., Freedman, B. I., Quinones, M. P., Bamshad, M. J., et al. (2005) · Science · doi:10.1126/science.1101160 · Cited by 1,145
Fine-scale structural variation of the human genome
Tüzün, E., Sharp, A. J., Bailey, J. A., Kaul, R., Morrison, V., Pertz, L. M., Haugen, E., Hayden, H. S., Albertson, D. G., Pinkel, D., et al. (2005) · Nature Genetics · doi:10.1038/ng1562 · Cited by 1,000
Self-citationSegmental Duplications and Copy-Number Variation in the Human Genome
Sharp, A. J., Locke, D. P., McGrath, S. D., Cheng, Z., Bailey, J. A., Vallente, R. U., Pertz, L. M., Clark, R. A., Schwartz, S., Segraves, R., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/431652 · Cited by 983
Self-citationGenome architecture, rearrangements and genomic disorders
Stankiewicz, P., & Lupski, J. R. (2002) · Trends in Genetics · doi:10.1016/s0168-9525(02)02592-1 · Cited by 938
A common inversion under selection in Europeans
Stefánsson, H., Helgason, A., Þorleifsson, G., Steinthórsdóttir, V., Másson, G., Barnard, J., Baker, A., Jónasdóttir, Á., Ingason, A., Gudnadottir, V. G., et al. (2005) · Nature Genetics · doi:10.1038/ng1508 · Cited by 847
Cited by
Sorted by citations
Items 301–398 of 398
Is the human genome nearly identical to chimpanzee?—a reassessment of the literature
Bergman, J., & Tomkins, J. P. (2012) · Cited by 2
The Endocrinology of Human Pregnancy and Parturition
Smith, R., & Lau, S. L. (2015) · Elsevier eBooks · doi:10.1016/b978-0-323-18907-1.00144-x · Cited by 2
Ongoing human chromosome end extension revealed by analysis of BioNano and nanopore data
Shao, H., Zhou, C., Cao, M. D., & Coin, L. (2018) · Scientific Reports · doi:10.1038/s41598-018-34774-0 · Cited by 2
Genomic disorders in the genomics era
Zepeda‐Mendoza, C. J., & Gonzaga-Jauregui, C. G. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-820140-4.00004-1 · Cited by 2
Non-Syndromic atrioventricular septal defects
Patel, S. S., Romitti, P. A., SCHOLZ, T. D., Murray, J. C., Burns, T. L., & Mahoney, L. T. (2010) · doi:10.17077/etd.5l5qvwi4 · Cited by 2
Bogart, S. L. (2009) · doi:10.31274/etd-180810-1486 · Cited by 2
Cooper, D. N., & Kehrer‐Sawatzki, H. (2008) · Wiley eBooks · doi:10.1002/9780470015902.a0020753 · Cited by 2
computational methods for discovering structural variation with next-generation
Stanciu, M., & Brudno, M. (2009) · Cited by 2
Structural differences of orthologous genes: Insights from human–primate comparisons
Lee, T. M., & Lipovich, L. (2008) · Genomics · doi:10.1016/j.ygeno.2008.05.006 · Cited by 1
Research proceedings on primate comparative genomics
Liao, C., & Bing, S. U. (2013) · Zoological Research · doi:10.3724/sp.j.1141.2012.01108 · Cited by 1
Ownership protection of shape datasets with geodesic distance preservation
Vlachos, M., Lucchese, C., Rajan, D., & Yu, P. S. (2008) · International Conference on Extending Database Technology (EDBT) · doi:10.1145/1352431.1352467 · Cited by 1
He, J., Yu, M., Chi, C., Du, Z., Zheng, Y., Chen, C., Moawad, A. S., Song, C., & Wang, X. (2023) · Animals · doi:10.3390/ani13142355 · Cited by 1
Uttam, V., Vohra, V., Chhotaray, S., Santhosh, A., Diwakar, V., Patel, V., & Gahlyan, R. K. (2023) · Animal Biotechnology · doi:10.1080/10495398.2023.2277376 · Cited by 1
Omic Data, Information Derivable and Computational Needs
Xu, Y., Cui, J., & Puett, D. (2014) · Springer eBooks · doi:10.1007/978-1-4939-1381-7_2 · Cited by 1
The Endocrinology of Human Pregnancy and Parturition
Smith, R., & Lau, S. L. (2010) · Elsevier eBooks · doi:10.1016/b978-1-4160-5583-9.00144-1 · Cited by 1
Haq, F. U., Saeed, U., Khalid, R., Qasim, M., & Mehmood, M. (2019) · 3 Biotech · doi:10.1007/s13205-019-1768-7 · Cited by 2
Cassidy, M. (2020) · Cambridge University Press eBooks · doi:10.1017/9781139016018 · Cited by 1
Gene Expression in the Evolution of the Human Brain
Oldham, M. C., & Geschwind, D. H. (2009) · Elsevier eBooks · doi:10.1016/b978-008045046-9.00961-x · Cited by 1
Fiston-Lavier, A.-S. (2008) · HAL · Cited by 1
Chromosomal Rearrangements in the Human and Chimpanzee Lineages
Kehrer‐Sawatzki, H., & Cooper, D. N. (2008) · Wiley eBooks · doi:10.1002/9780470015902.a0020738 · Cited by 1
Human Evolution: How Random Process Fulfils Divine Purpose
Finlay, G. J. (2008) · Perspectives on Science and Christian Faith · Cited by 1
Copy Number Variants and Segmental Duplications Show Different Formation SignaturesPreprint
Kim, P. M., Korbel, J. O., Chen, X., & Gerstein, M. (2007) · arXiv (Cornell University) · doi:10.48550/arxiv.0709.4200 · Cited by 1
Gibbs, R. A., Worley, K. C., Kehrer‐Sawatzki, H., & Cooper, D. N. (2008) · Encyclopedia of Life Sciences · doi:10.1002/9780470015902.a0020744 · Cited by 1
Doukeris, C. E., & Planchart, A. (2007) · PubMed · Cited by 1
(2011) · Wiley eBooks · doi:10.1002/9781444342499.refs · Cited by 1
McCoy, D. E. (2018) · Springer eBooks · doi:10.1007/978-3-319-16999-6_2094-1 · Cited by 1
Evolution and Biological Meaning of Genomic Wastelands (RCRO): Proposal of Hypothesis
Hirai, H. (2011) · Primatology monographs · doi:10.1007/978-4-431-54011-3_15
Dahlgren, A. (2007) · KTH Publication Database DiVA (KTH Royal Institute of Technology)
Orthologs, Paralogs and Xenologs in Human and Other Genomes
Olendzenski, L., Zhaxybayeva, O., & Gogarten, J. P. (2006) · Wiley eBooks · doi:10.1038/npg.els.0005298 · Cited by 1
Phylogenetic Relationships (Biomolecules)
Disotell, T. R. (2013) · Springer eBooks · doi:10.1007/978-3-642-27800-6_59-2
Indels in the Evolution of the Human and Chimpanzee Genomes
Wetterbom, A., Cavelier, L. B., & Bergström, T. F. (2008) · Encyclopedia of Life Sciences · doi:10.1002/9780470015902.a0020851
Kehrer‐Sawatzki, H., & Cooper, D. N. (2008) · Wiley eBooks · doi:10.1002/9780470015902.a0006115.pub2
Transposable Element‐driven Duplications during Hominoid Genome Evolution
Mishra, B. (2008) · Wiley eBooks · doi:10.1002/9780470015902.a0020756 · Cited by 1
Evolution of Human Gene Expression Control
Boyd, J. L., & Wray, G. A. (2014) · Wiley eBooks · doi:10.1002/9780470015902.a0020769.pub2
L’évolution et le développement du langage humain chez Homo Symbolicus et Pan Symbolicus
Savage‐Rumbaugh, E. S., & Fields, W. M. (2012) · Labyrinthe · doi:10.4000/labyrinthe.4244
Human‐specific Changes of Genome Structure
Harris, R. A., & Milosavljevic, A. (2008) · Encyclopedia of Life Sciences · doi:10.1002/9780470015902.a0020997
Genome Structure and Primate Evolution
Satta, Y. (2011) · Primatology monographs · doi:10.1007/978-4-431-54011-3_10
Structural Variation in Great Ape Genomes
Aerts, J. A., & Tyler‐Smith, C. (2009) · Encyclopedia of Life Sciences · doi:10.1002/9780470015902.a0021768
Rivera, C. C. (2007) · LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas)
Ganguli, I. (2004) · Genome biology · doi:10.1186/gb-spotlight-20050902-01
Skipper, M. (2005) · Nature Reviews Genetics · doi:10.1038/nrg1713
Chimpanzee joins the genome club
Hopkin, M. (2005) · Nature · doi:10.1038/news050829-9
In the intimacy of thought: Darwin’s notebooks on the moral sense of man
da Costa, P. F. (2010) · Antropologia Portuguesa · doi:10.14195/2182-7982_27_7
A Novel Framework for the Identification and Analysis of Duplicons between Human and Chimpanzee
Chuang, T., Wu, S.-Z., & Huang, Y. (2013) · BioMed Research International · doi:10.1155/2013/264532
Nucleotide Sequence Divergence between Humans and Chimpanzees
Chen, F., & Chuang, T. (2008) · Wiley eBooks · doi:10.1002/9780470015902.a0020751
Segmental Duplications: A Source of Diversity, Evolution and Disease
Catacchio, C. R., Chiatante, G., Anaclerio, F., & Ventura, M. (2015) · Wiley eBooks · doi:10.1002/9780470015902.a0020838.pub2
Self-citationAnnotation Driven Hierarchical Clustering Analysis
Kruševskaja, D. (2007) · DSpace repository (University of Tartu)
Evolutionary Genomics: Linking Macromolecular Structure, Genomes and Biological Networks
Caetano‐Anollés, G. (2008) · Soil biology · doi:10.1007/978-3-540-75575-3_6
Maretty, L., Sibbesen, J. A., & Krogh, A. (2014)
Using exome sequencing to study adaptive evolution in non-human primates and human populations
George, R. D. (2012) · ResearchWorks at the University of Washington (University of Washington)
Boixader, A. A. (2006) · LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas)
PRIMATE GENE AND GENOME EVOLUTION DRIVEN BY SEGMENTAL DUPLICATION ON CHROMOSOME 16
Johnson, M. E. (2008) · OhioLink ETD Center (Ohio Library and Information Network)
Inherited and de novo variation in human genomes
Francioli, L. C. (2015) · Utrecht University Repository (Utrecht University)
Marquès‐Bonet, T., & Armengol, L. (2009) · Treballs de la Societat Catalana de Biologia · doi:10.2436/tscb.v0i60.6707
DeConti, D. K. (2015) · The Journal of the American Medical Association (JAMA) Network (American Medical Association) · doi:10.13028/m2601c
microRNA and Neocortical Evolution
Pratt, T., Nowakowski, T. J., & Price, D. J. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-804402-5.00016-9
Species- Specific Genes and Good Mutations; A New Approach to Test Evolution
Dweik, N. E. R. (2017) · Advances in Biotechnology & Microbiology · doi:10.19080/aibm.2017.07.555705
Taylor, M. S., & Copley, R. R. (2007) · Wiley eBooks · doi:10.1002/9783527619368.ch37
Long-term balancing selection in the genomes of humans and other great apes
Teixeira, J. C. (2016) · Qucosa (Saxon State and University Library Dresden)
What makes humans human? a review of important genetic differences between chimpanzees and humans
Cormier, D. T., Berry, A. B., Rhodes, M., & Copeland, J. M. (2017) · Journal of Student Research · doi:10.47611/jsr.v6i2.291
The Chasm Between the Human and Chimpanzee Genomes: A Review of the Evolutionary Literature
Bergman, J., & Tomkins, J. P. (2013) · DigitalCommons-Cedarville (Cedarville University)
Evolution of Human Multigene Families
Batool, F., Pervaiz, N., Khalid, Q., & Abbasi, A. A. (2021) · Wiley eBooks · doi:10.1002/9780470015902.a0029116
Read-depth Methodology for the Analysis of Recent Segmental Duplications in the Grapevine Genome
Giannuzzi, G., Cardone, M. F., Ventura, M., & Antonacci, D. (2013)
Self-citationChile: ¿Qué es la Sociedad de la Información?
Reusser, C. P. (2003) · Hispana
Bastien, O. (2006) · OpenGrey (Institut de l'Information Scientifique et Technique) · Cited by 1
Diogo, R. (2012) · Science Publishers eBooks · doi:10.1201/b11605-6
Hofreiter, M. (2009) · Springer eBooks · doi:10.1007/978-3-540-37654-5_20 · Cited by 1
(2007) · Elsevier eBooks · doi:10.1016/b978-012372576-9/50018-8
(2009) · Wiley eBooks · doi:10.1002/9780470551455.biblio
McCoy, D. E. (2021) · Springer eBooks · doi:10.1007/978-3-319-19650-3_2094
Michaud, M. A. G. (2007) · Springer eBooks · doi:10.1007/978-0-387-68618-9_9
Evolution of Human Gene Expression Control
Babbitt, C. C., & Wray, G. A. (2008) · Encyclopedia of Life Sciences · doi:10.1002/9780470015902.a0020769
Orthologues, Paralogues and Xenologues in Human and Other Genomes
Zhaxybayeva, O., Gogarten, J. P., & Olendzenski, L. (2008) · Wiley eBooks · doi:10.1002/9780470015902.a0005298.pub2
Sun, L., You, J., Li, D., Zhang, Z., Qin, X., Pang, W., Li, P., Han, Q., Li, Y., Huang, Z., et al. (2023) · Figshare · doi:10.6084/m9.figshare.22598578
(2024) · Elsevier eBooks · doi:10.1016/b978-0-443-21719-7.10000-1
Ankel‐Simons, F. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-21719-7.00014-x
eLife Assessment: DNA replication errors are a major source of adaptive gene amplification
Braun, S. J. (2024) · eLife · doi:10.7554/elife.98934.1.sa3
Template switching during DNA replication is a prevalent source of adaptive gene amplificationPreprint
Chuong, J. N., Nun, N. B., Suresh, I., Matthews, J. C., De, T., Avecilla, G., Abdul‐Rahman, F., Brandt, N., Ram, Y., & Gresham, D. (2024) · eLife · doi:10.7554/elife.98934.2
Huu, A. N., Hong, N. T. T., Bich, H. B., Quang, T. V., Pham, D. T., & Thi, H. L. (2024) · Current Bioinformatics · doi:10.2174/0115748936340523241113051828
Mahlanza, M. C. (2011) · Boloka Institutional Repository (North-west University)
Phylogenetic Relationships of Hominids: Biomolecular Approach
Disotell, T. R. (2014) · Springer eBooks · doi:10.1007/978-3-642-39979-4_59
Poszewiecka, B., Gogolewski, K., Karolak, J. A., Stankiewicz, P., & Gambin, A. (2024) · Figshare · doi:10.6084/m9.figshare.26616739
Poszewiecka, B., Gogolewski, K., Karolak, J. A., Stankiewicz, P., & Gambin, A. (2024) · Figshare · doi:10.6084/m9.figshare.26616742
Singh, S., Shahadab, M., Sachin, K., Pandey, R. K., Trivedi, P., Mishra, A. K., & Jha, H. C. (2026) · Mammalian Genome · doi:10.1007/s00335-026-10228-1
Specializations of human cerebral cortex
Preuss, T. M. (2026) · Elsevier eBooks · doi:10.1016/b978-0-443-27380-3.00064-6
Can We Understand Parameter Values in the Human Genome?
Li, W. (2013) · Springer proceedings in complexity · doi:10.1007/978-3-319-00395-5_128
Twelve Years of Neandertal Genetic Discoveries: State-of-the-Art and Future Challenges
Orlando, L., & Hänni, C. (2011) · Vertebrate paleobiology and paleoanthroplogy series/Vertebrate paleobiology and paleoanthropology series · doi:10.1007/978-94-007-0492-3_21
Metadata
- Authors
- Cheng, Z., Ventura, M., She, X., Khaitovich, P., Graves, T., Osoegawa, K., Church, D., DeJong, P., Wilson, R. K., Pääbo, S., Rocchi, M., & Eichler, E. E.
- Affiliations
- Howard Hughes Medical Institute (US)
- University of Bari Aldo Moro (IT)
- Max Planck Institute for Evolutionary Anthropology (DE)
- Washington University in St. Louis (US)
- National Institutes of Health (US)
- Corresponding author
- Eichler, Evan E.
- ORCID
- Venue
- Nature
- Published
- 2005-09
- Volume
- 437
- Issue
- 7055
- Pages
- 88-93
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W1971369643
- Cited by
- 398
- References
- 31
- Citations by year
- 2026: 3 · 2025: 4 · 2024: 17 · 2023: 4 · 2022: 4 · 2021: 5 · 2020: 17 · 2019: 10 · 2018: 11 · 2017: 13 · 2016: 6 · 2015: 10 · 2014: 15 · 2013: 22 · 2012: 18
- FWCI
- 27.23
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- Max Planck Institute for Plasma Physics (submittedVersion)
- MPG.PuRe (Max Planck Society) (submittedVersion)
- CINECA IRIS Institutional Research Information System (University of Bari Aldo Moro) (submittedVersion)
- Funders
- European Commission
- Bundesministerium für Bildung und Forschung
- National Institute of General Medical Sciences
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Chromosomal and Genetic Variations
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
- Keywords
- segmental duplication, human-chimpanzee comparison, de novo duplication, gene conversion, subtelomeric heterochromatin, gene expression differences, primate genome evolution, human evolution, chimpanzee genome, Y-linked genes, chromosome structure, comparative genomics
- MeSH terms
- Animals, Pan troglodytes, Gene Conversion, Humans, Species Specificity, Time Factors, Genome, Human, Evolution, Molecular, Computational Biology, Gene Duplication, Genomics, Chromosomes, Mammalian
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.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review