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Research: Epigenetic and evolutionary features of ape subterminal heterochromatin
- DongAhn Yoo,
- Katherine M. Munson,
- and Evan E. Eichler
Genome Res. January 2026 36: 38-49; Published in Advance October 22, 2025, doi:10.1101/gr.280987.125
...interactions between subtelomeric sequences among homologous and nonhomologous chromosomes (Hirai et al. 2019). The function of the subterminal caps is not known, although they have been proposed to help stabilize African great ape s by preventing or buffering against interchromosomal exchanges of more...
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Corrigendum: Corrigendum: The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2
- Mario Ventura,
- Claudia R. Catacchio,
- Saba Sajjadian,
- Laura Vives,
- Peter H. Sudmant,
- Tomas Marques-Bonet,
- Tina A. Graves,
- Richard K. Wilson,
- and Evan E. Eichler
Genome Res. September 2017 27: 1621.1; doi:10.1101/gr.226878.117
...of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2 Eichler, Evan E Mario Saba Sajjadian Graves, Tina A RichardK Wilson R.K. Wilson Peter Sudmant Eichler Evan E. Marques-Bonet Eichler, E.E P Sudmant Vives, L Laura T.A. Graves Peter H Tina A, Graves PH Sudmant Richard K...
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Research: Hominoid fission of chromosome 14/15 and the role of segmental duplications
- Giuliana Giannuzzi,
- Michele Pazienza,
- John Huddleston,
- Francesca Antonacci,
- Maika Malig,
- Laura Vives,
- Evan E. Eichler,
- and Mario Ventura
Genome Res. November 2013 23: 1763-1773; Published in Advance September 27, 2013, doi:10.1101/gr.156240.113
...evolutionary parallelisms with chimpanzee. Genome Res 21: 1640–1649. VenturaM, Catacchio CR, Sajjadian S, Vives L, Sudmant PH,Marques-Bonet T, Graves TA,Wilson RK, Eichler EE. 2012. The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2. Genome Res 22: 1036...
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LETTER: Evolutionary dynamics of segmental duplications from human Y-chromosomal euchromatin/heterochromatin transition regions
- Stefan Kirsch,
- Claudia Münch,
- Zhaoshi Jiang,
- Ze Cheng,
- Lin Chen,
- Christiane Batz,
- Evan E. Eichler,
- and Werner Schempp
Genome Res. July 2008 18: 1030-1042; Published in Advance April 29, 2008, doi:10.1101/gr.076711.108
...duplications (10–20 Mya) ( Horvath et al. 2005 ), we find that a substantial fraction originated before that time. Moreover, our evolutionary reconstruction identified species-specific duplicated sequences on the Y chromosome, especially among the African great apes. Detailed analyses of pericentromeric...
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LETTER: Punctuated duplication seeding events during the evolution of human chromosome 2p11
- Julie E. Horvath,
- Cassandra L. Gulden,
- Rhea U. Vallente,
- Marla Y. Eichler,
- Mario Ventura,
- John D. McPherson,
- Tina A. Graves,
- Richard K. Wilson,
- Stuart Schwartz,
- Mariano Rocchi,
- and Evan E. Eichler
Genome Res. July 2005 15: 914-927; Published in Advance June 17, 2005, doi:10.1101/gr.3916405
...), but before the divergence of human and the African great-apes (∼8 Mya) ( Fig. 2 ; Table 3 ). The phylogenetic data agree closely with the comparative FISH data. The genetic distance, for example, between human and baboon sequence ranges from 0.052–0.081, while the evolutionary distance between the human...
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ARTICLE: Gene copy number variation spanning 60 million years of human and primate evolution
- Laura Dumas,
- Young H. Kim,
- Anis Karimpour-Fard,
- Michael Cox,
- Janet Hopkins,
- Jonathan R. Pollack,
- and James M. Sikela
Genome Res. September 2007 17: 1266-1277; Published in Advance July 31, 2007, doi:10.1101/gr.6557307
...duplication in humans and that the adjacent regions are likely to be among the most active gene nurseries in the human . In contrast, genes showing chimp LS, Pan LS, gorilla LS, and African great ape LS duplications often map to subtelomeric regions, and in macaque LS duplications are often found near gaps...
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LETTER: Segmental Duplications in Euchromatic Regions of Human Chromosome 5: A Source of Evolutionary Instability and Transcriptional Innovation
- Anouk Courseaux,
- Florence Richard,
- Josiane Grosgeorge,
- Christine Ortola,
- Agnes Viale,
- Claude Turc-Carel,
- Bernard Dutrillaux,
- Patrick Gaudray,
- and Jean-Louis Nahon
Genome Res. March 1, 2003 13: 369-381; Published in Advance February 12, 2003, doi:10.1101/gr.490303
.... The history of the spreading of the CDH12 -derived sequences is quite different, as the founder event was more likely to be operated only at the time of divergence of humans and African great apes, about 10 Mya. Although we could not firmly exclude the presence of copies of Psdex4 and c41-cad...
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LETTER: Independent intrachromosomal recombination events underlie the pericentric inversions of chimpanzee and gorilla chromosomes homologous to human chromosome 16
- Violaine Goidts,
- Justyna M. Szamalek,
- Pieter J. de Jong,
- David N. Cooper,
- Nadia Chuzhanova,
- Horst Hameister,
- and Hildegard Kehrer-Sawatzki
Genome Res. September 2005 15: 1232-1242; doi:10.1101/gr.3732505
...shared with the African hominoids, a duplication of the region in question occurred followed by the interchromosomal transposition of the duplicated copy to the ancestral chromosome 16q. The most parsimonious explanation for our findings is that among the hominoids, humans retained the ancestral form...
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ARTICLE: Genomic Sequence and Transcriptional Profile of the Boundary Between Pericentromeric Satellites and Genes on Human Chromosome Arm 10p
- Jane Guy,
- Tom Hearn,
- Moira Crosier,
- Jonathan Mudge,
- Luigi Viggiano,
- Dirk Koczan,
- Hans-Jurgen Thiesen,
- Jeffrey A. Bailey,
- Julie E. Horvath,
- Evan E. Eichler,
- Mark E. Earthrowl,
- Panos Deloukas,
- Lisa French,
- Jane Rogers,
- David Bentley,
- and Michael S. Jackson
Genome Res. February 1, 2003 13: 159-172; Published in Advance January 14, 2003, doi:10.1101/gr.644503
...from highly duplicated pericentromeric regions of human chromosomes is needed if we are to understand the role of pericentromeric instability in disease, and in gene and karyotype evolution. Here, we have constructed a BAC contig spanning the transition from pericentromeric satellites to genes...
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Research: Novel H3K4me3 marks are enriched at human- and chimpanzee-specific cytogenetic structures
- Giuliana Giannuzzi,
- Eugenia Migliavacca,
- and Alexandre Reymond
Genome Res. September 2014 24: 1455-1468; Published in Advance June 10, 2014, doi:10.1101/gr.167742.113
...in recombination hotspots, heterochromatin, and duplicated regions at these sites, supports novelty in regulatory elements. The novel human epigenetic marks at the chromosome 2 fusion point might also reflect its ancestral subtelomeric location. Of note, increased epigenetic diversity at subtelomeric regions...

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