Searching journal content for articles similar to Giannuzzi et al. 23 (1): 46.

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  1. 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
    ...s (Supplemental Fig. S8), which we identify as candidate nonallelic homologous recombination (NAHR)–mediated inversions that may undergo recurrent rearrangements in primate s.Analysis of genomic featuresBecause inversions can directly act on genes via direct breaking of structure and separation...
  2. Resource: A map of enhancer regions in primary human neural progenitor cells using capture STARR-seq
    • Sophia C. Gaynor-Gillett,
    • Lijun Cheng,
    • Manman Shi,
    • Jason Liu,
    • Gaoyuan Wang,
    • Megan Spector,
    • Qiuyu Guo,
    • Le Qi,
    • Mary Flaherty,
    • Martha Wall,
    • Ahyeon Hwang,
    • Mengting Gu,
    • Zhanlin Chen,
    • Yuhang Chen,
    • PsychENCODE Consortium,
    • Jennifer R. Moran,
    • Jing Zhang,
    • Donghoon Lee,
    • Mark Gerstein,
    • Daniel Geschwind,
    • and Kevin P. White
    Genome Res. August 2025 35: 1887-1901; Published in Advance July 11, 2025, doi:10.1101/gr.279584.124
    ..., KANSL1-AS1, KANSL1, LRRC37A, LRRC37A2, MAPT-AS1, and MAPT, with each variant predicted to regulate at least eight of these genes (Supplemental Table S19). For all genes except two, ARL17A and MAPT-AS1, the target gene showed increased expression in individuals with the alternate allele for each variant...
  3. Research: AGAP duplicons associate with structural diversity at Chromosome 10q11.22
    • Stefania Fornezza,
    • Vincenza Simona Delvecchio,
    • William T. Harvey,
    • Philip C. Dishuck,
    • Evan E. Eichler,
    • and Giuliana Giannuzzi
    Genome Res. October 2024 34: 1487-1499; Published in Advance September 25, 2024, doi:10.1101/gr.279454.124
    ...duplicons recall the behavior of other elements in human and primate s, like LRRC37 copies on Chromosome 17 (Giannuzzi et al. 2013b), GOLGA copies on Chromosome 15 (Giannuzzi et al. 2013a; Antonacci et al. 2014; Maggiolini et al. 2019), and NPIP copies on Chromosome 16 (Nuttle et al. 2016; Cantsilieris et...
  4. Research: Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region
    • Kiana Mohajeri,
    • Stuart Cantsilieris,
    • John Huddleston,
    • Bradley J. Nelson,
    • Bradley P. Coe,
    • Catarina D. Campbell,
    • Carl Baker,
    • Lana Harshman,
    • Katherine M. Munson,
    • Zev N. Kronenberg,
    • Milinn Kremitzki,
    • Archana Raja,
    • Claudia Rita Catacchio,
    • Tina A. Graves,
    • Richard K. Wilson,
    • Mario Ventura,
    • and Evan E. Eichler
    Genome Res. November 2016 26: 1453-1467; Published in Advance October 7, 2016, doi:10.1101/gr.211284.116
    ...that has shaped the structure of specific chromosomes during primate evolution contributing to rearrangements associated with inversion and disease. [Supplemental material is available for this article.] The Chromosome 8p23.1 region is one of themost structurally dynamic regions of the human associated...
  5. 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
    ..., Amode MR, Barrell D, Beal K, Billis K, Brent S, Carvalho-Silva D, Clapham P, Coates G, Fitzgerald S, et al. 2014. Ensembl 2014. Nucleic Acids Res 42: D749–D755. Giannuzzi G, Siswara P, Malig M, Marques-Bonet T, Mullikin JC, Ventura M, Eichler EE. 2013. Evolutionary dynamism of the primate LRRC37 gene...
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