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KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

Author

Listed:
  • Christelle Golzio

    (Duke University)

  • Jason Willer

    (Duke University)

  • Michael E. Talkowski

    (Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital
    Harvard Medical School)

  • Edwin C. Oh

    (Duke University)

  • Yu Taniguchi

    (Johns Hopkins University School of Medicine)

  • Sébastien Jacquemont

    (Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois)

  • Alexandre Reymond

    (Center for Integrative Genomics, University of Lausanne)

  • Mei Sun

    (Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital)

  • Akira Sawa

    (Johns Hopkins University School of Medicine)

  • James F. Gusella

    (Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital
    Harvard Medical School)

  • Atsushi Kamiya

    (Johns Hopkins University School of Medicine)

  • Jacques S. Beckmann

    (Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois
    University of Lausanne)

  • Nicholas Katsanis

    (Duke University
    Duke University)

Abstract

Overexpression of all 29 human transcripts of a region of the 16p11.2 chromosome in zebrafish embryos identifies KCTD13 as the message inducing the microcephaly phenotype associated with 16p11.2 duplication, whereas its suppression yields the macrocephalic phenotype associated with the reciprocal deletion, suggesting that KCTD13 is a major driver for the neurodevelopmental phenotypes associated with the 16p11.2 copy number variants.

Suggested Citation

  • Christelle Golzio & Jason Willer & Michael E. Talkowski & Edwin C. Oh & Yu Taniguchi & Sébastien Jacquemont & Alexandre Reymond & Mei Sun & Akira Sawa & James F. Gusella & Atsushi Kamiya & Jacques S. , 2012. "KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant," Nature, Nature, vol. 485(7398), pages 363-367, May.
    • Handle: RePEc:nat:nature:v:485:y:2012:i:7398:d:10.1038_nature11091
    DOI: 10.1038/nature11091
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    Cited by:

    1. Elaine T. Lim & Yingleong Chan & Pepper Dawes & Xiaoge Guo & Serkan Erdin & Derek J. C. Tai & Songlei Liu & Julia M. Reichert & Mannix J. Burns & Ying Kai Chan & Jessica J. Chiang & Katharina Meyer & , 2022. "Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder," Nature Communications, Nature, vol. 13(1), pages 1-14, December.
    2. Yuto Hasegawa & Juhyun Kim & Gianluca Ursini & Yan Jouroukhin & Xiaolei Zhu & Yu Miyahara & Feiyi Xiong & Samskruthi Madireddy & Mizuho Obayashi & Beat Lutz & Akira Sawa & Solange P. Brown & Mikhail V, 2023. "Microglial cannabinoid receptor type 1 mediates social memory deficits in mice produced by adolescent THC exposure and 16p11.2 duplication," Nature Communications, Nature, vol. 14(1), pages 1-19, December.
    3. Jakub Kopal & Kuldeep Kumar & Kimia Shafighi & Karin Saltoun & Claudia Modenato & Clara A. Moreau & Guillaume Huguet & Martineau Jean-Louis & Charles-Olivier Martin & Zohra Saci & Nadine Younis & Elis, 2024. "Using rare genetic mutations to revisit structural brain asymmetry," Nature Communications, Nature, vol. 15(1), pages 1-19, December.
    4. Ludovica Montanucci & David Lewis-Smith & Ryan L. Collins & Lisa-Marie Niestroj & Shridhar Parthasarathy & Julie Xian & Shiva Ganesan & Marie Macnee & Tobias Brünger & Rhys H. Thomas & Michael Talkows, 2023. "Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals," Nature Communications, Nature, vol. 14(1), pages 1-19, December.

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