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

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. Beckmann and Nicholas Katsanis ()
Additional contact information
Christelle Golzio: Duke University
Jason Willer: Duke University
Michael E. Talkowski: Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital
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
Atsushi Kamiya: Johns Hopkins University School of Medicine
Jacques S. Beckmann: Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois
Nicholas Katsanis: Duke University

Nature, 2012, vol. 485, issue 7398, 363-367

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.

Date: 2012
References: Add references at CitEc
Citations: View citations in EconPapers (4)

Downloads: (external link)
https://www.nature.com/articles/nature11091 Abstract (text/html)
Access to the full text of the articles in this series is restricted.

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:nature:v:485:y:2012:i:7398:d:10.1038_nature11091

Ordering information: This journal article can be ordered from
https://www.nature.com/

DOI: 10.1038/nature11091

Access Statistics for this article

Nature is currently edited by Magdalena Skipper

More articles in Nature from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().