Searching journal content for articles similar to Mohajeri et al. 26 (11): 1453.

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  1. Research: Multiple paralogs and recombination mechanisms contribute to the high incidence of 22q11.2 deletion syndrome
    • Lisanne Vervoort,
    • Nicolas Dierckxsens,
    • Marta Sousa Santos,
    • Senne Meynants,
    • Erika Souche,
    • Ruben Cools,
    • Tracy Heung,
    • Koen Devriendt,
    • Hilde Peeters,
    • Donna M. McDonald-McGinn,
    • Ann Swillen,
    • Jeroen Breckpot,
    • Beverly S. Emanuel,
    • Hilde Van Esch,
    • Anne S. Bassett,
    • and Joris R. Vermeesch
    Genome Res. April 2025 35: 786-797; Published in Advance November 13, 2024, doi:10.1101/gr.279331.124
    ...the GGT3P gene module is a core duplicon. Also, the FAM230, POM121, and BRC modules are very recurrent. Interestingly, polymorphisms of the core duplicons in Chromosome 15 (GOLGA8), Chromosome 16 (BOLA2) have been shown to drive the rearrangements (Antonacci et al. 2014; Nuttle et al. 2016; Maggiolini et...
  2. Research: Independent expansion, selection, and hypervariability of the TBC1D3 gene family in humans
    • Xavi Guitart,
    • David Porubsky,
    • DongAhn Yoo,
    • Max L. Dougherty,
    • Philip C. Dishuck,
    • Katherine M. Munson,
    • Alexandra P. Lewis,
    • Kendra Hoekzema,
    • Jordan Knuth,
    • Stephen Chang,
    • Tomi Pastinen,
    • and Evan E. Eichler
    Genome Res. November 2024 34: 1798-1810; Published in Advance August 6, 2024, doi:10.1101/gr.279299.124
    ...points of sequence overrepresented in SD repeat graphs (Jiang et al. 2007; Marques-Bonet and Eichler 2009; Dennis et al. 2017). Several core duplicons have been associated with recurrent and independent duplications in primates, chromosomal rearrangements among apes, large-scale inversion polymorphisms...
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  3. Resource: Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution
    • Flavia Angela Maria Maggiolini,
    • Ashley D. Sanders,
    • Colin James Shew,
    • Arvis Sulovari,
    • Yafei Mao,
    • Marta Puig,
    • Claudia Rita Catacchio,
    • Maria Dellino,
    • Donato Palmisano,
    • Ludovica Mercuri,
    • Miriana Bitonto,
    • David Porubský,
    • Mario Cáceres,
    • Evan E. Eichler,
    • Mario Ventura,
    • Megan Y. Dennis,
    • Jan O. Korbel,
    • and Francesca Antonacci
    Genome Res. November 2020 30: 1680-1693; Published in Advance October 22, 2020, doi:10.1101/gr.265322.120
    ...).Because ancestral duplications, termed core duplicons, have been shown to be hotspots of genomic rearrangements, including large-scale inversion polymorphisms and recurrent CNVs associated with disease (Zody et al. 2008; Giannuzzi et al. 2013; Antonacci et al. 2014; Dennis and Eichler 2016; Nuttle et al...
  4. Method: HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long reads
    • Sergey Nurk,
    • Brian P. Walenz,
    • Arang Rhie,
    • Mitchell R. Vollger,
    • Glennis A. Logsdon,
    • Robert Grothe,
    • Karen H. Miga,
    • Evan E. Eichler,
    • Adam M. Phillippy,
    • and Sergey Koren
    Genome Res. September 2020 30: 1291-1305; Published in Advance August 14, 2020, doi:10.1101/gr.263566.120
    ...of copy-number variable genes (e.g., DEFB136, DEFB135, etc.) mapping to two locations on Chromosome 8p23.1 (which we refer to as the defensin beta cluster), is a case in point. This ∼6-Mbp region plays an important role in immune function and disease (Weinberg et al. 2012; Mohajeri et al. 2016...
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