Nature Communications (Nov 2020)
RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis
- Muhammad Farooq,
- Louise Lindbæk,
- Nicolai Krogh,
- Canan Doganli,
- Cecilie Keller,
- Maren Mönnich,
- André Brás Gonçalves,
- Srinivasan Sakthivel,
- Yuan Mang,
- Ambrin Fatima,
- Vivi Søgaard Andersen,
- Muhammad S. Hussain,
- Hans Eiberg,
- Lars Hansen,
- Klaus Wilbrandt Kjaer,
- Jay Gopalakrishnan,
- Lotte Bang Pedersen,
- Kjeld Møllgård,
- Henrik Nielsen,
- Shahid. M. Baig,
- Niels Tommerup,
- Søren Tvorup Christensen,
- Lars Allan Larsen
Affiliations
- Muhammad Farooq
- Department of Cellular and Molecular Medicine, University of Copenhagen
- Louise Lindbæk
- Department of Biology, University of Copenhagen, Universitetsparken 13
- Nicolai Krogh
- Department of Cellular and Molecular Medicine, University of Copenhagen
- Canan Doganli
- Department of Cellular and Molecular Medicine, University of Copenhagen
- Cecilie Keller
- Department of Biology, University of Copenhagen, Universitetsparken 13
- Maren Mönnich
- Department of Cellular and Molecular Medicine, University of Copenhagen
- André Brás Gonçalves
- Department of Biology, University of Copenhagen, Universitetsparken 13
- Srinivasan Sakthivel
- Department of Cellular and Molecular Medicine, University of Copenhagen
- Yuan Mang
- Department of Cellular and Molecular Medicine, University of Copenhagen
- Ambrin Fatima
- Human Molecular Genetics Laboratory; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering PIEAS
- Vivi Søgaard Andersen
- Department of Biology, University of Copenhagen, Universitetsparken 13
- Muhammad S. Hussain
- Institute of Biochemistry I, University of Cologne
- Hans Eiberg
- Department of Cellular and Molecular Medicine, University of Copenhagen
- Lars Hansen
- Department of Cellular and Molecular Medicine, University of Copenhagen
- Klaus Wilbrandt Kjaer
- Department of Cellular and Molecular Medicine, University of Copenhagen
- Jay Gopalakrishnan
- Institute of Human Genetics, Universitätsstrasse 1, Heinrich-Heine-University
- Lotte Bang Pedersen
- Department of Biology, University of Copenhagen, Universitetsparken 13
- Kjeld Møllgård
- Department of Cellular and Molecular Medicine, University of Copenhagen
- Henrik Nielsen
- Department of Cellular and Molecular Medicine, University of Copenhagen
- Shahid. M. Baig
- Human Molecular Genetics Laboratory; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering PIEAS
- Niels Tommerup
- Department of Cellular and Molecular Medicine, University of Copenhagen
- Søren Tvorup Christensen
- Department of Biology, University of Copenhagen, Universitetsparken 13
- Lars Allan Larsen
- Department of Cellular and Molecular Medicine, University of Copenhagen
- DOI
- https://doi.org/10.1038/s41467-020-19658-0
- Journal volume & issue
-
Vol. 11,
no. 1
pp. 1 – 16
Abstract
The RRP7A a gene is involved in ribosome biogenesis. Here the authors report a homozygous missense mutation segregating with primary microcephaly, and show that this occurs via functional defects in both nucleoli and primary cilia disrupting cell proliferation and neurogenesis.
