Gene duplication

Definition

Latest Research and Reviews

  • Research |

    Genomic duplications in the SOX9 region are associated with human disease phenotypes; a study using human cells and mouse models reveals that the duplications can cause the formation of new higher-order chromatin structures called topologically associated domains (TADs) thereby resulting in changes in gene expression.

    • Martin Franke
    • , Daniel M. Ibrahim
    • , Guillaume Andrey
    • , Wibke Schwarzer
    • , Verena Heinrich
    • , Robert Schöpflin
    • , Katerina Kraft
    • , Rieke Kempfer
    • , Ivana Jerković
    • , Wing-Lee Chan
    • , Malte Spielmann
    • , Bernd Timmermann
    • , Lars Wittler
    • , Ingo Kurth
    • , Paola Cambiaso
    • , Orsetta Zuffardi
    • , Gunnar Houge
    • , Lindsay Lambie
    • , Francesco Brancati
    • , Ana Pombo
    • , Martin Vingron
    • , Francois Spitz
    •  & Stefan Mundlos
    Nature 538, 265–269
  • Research | | open

    Genes in the cytochrome P450 family have evolved a wide range of functions. Here, Liu et al. reconstruct the evolution of the P450 genes CYP98A8 and CYP98A9 in the Brassicales, revealing a complex history of retrotransposition, tandem duplication and neofunctionalization, followed by subfunctionalization or gene loss in specific lineages.

    • Zhenhua Liu
    • , Raquel Tavares
    • , Evan S. Forsythe
    • , François André
    • , Raphaël Lugan
    • , Gabriella Jonasson
    • , Stéphanie Boutet-Mercey
    • , Takayuki Tohge
    • , Mark A. Beilstein
    • , Danièle Werck-Reichhart
    •  & Hugues Renault
  • Research | | open

    The genetic basis of clear cell sarcomas of the kidney is not well understood. In this study, Roy et al. perform whole-exome and RNA sequencing of these tumours and identify recurrent internal tandem duplications in BCOR, a key constituent of a variant polycomb repressive complex.

    • Angshumoy Roy
    • , Vijetha Kumar
    • , Barry Zorman
    • , Erica Fang
    • , Katherine M. Haines
    • , HarshaVardhan Doddapaneni
    • , Oliver A. Hampton
    • , Simon White
    • , Abhishek A. Bavle
    • , Nimesh R. Patel
    • , Karen W. Eldin
    • , M. John Hicks
    • , Dinesh Rakheja
    • , Patrick J. Leavey
    • , Stephen X. Skapek
    • , James F. Amatruda
    • , Jed G. Nuchtern
    • , Murali M. Chintagumpala
    • , David A. Wheeler
    • , Sharon E. Plon
    • , Pavel Sumazin
    •  & D. Williams Parsons

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