Nature Communications (Oct 2022)
INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex
- Lauren G. Mascibroda,
- Mohammad Shboul,
- Nathan D. Elrod,
- Laurence Colleaux,
- Hanan Hamamy,
- Kai-Lieh Huang,
- Natoya Peart,
- Moirangthem Kiran Singh,
- Hane Lee,
- Barry Merriman,
- Jeanne N. Jodoin,
- Poojitha Sitaram,
- Laura A. Lee,
- Raja Fathalla,
- Baeth Al-Rawashdeh,
- Osama Ababneh,
- Mohammad El-Khateeb,
- Nathalie Escande-Beillard,
- Stanley F. Nelson,
- Yixuan Wu,
- Liang Tong,
- Linda J. Kenney,
- Sudipto Roy,
- William K. Russell,
- Jeanne Amiel,
- Bruno Reversade,
- Eric J. Wagner
Affiliations
- Lauren G. Mascibroda
- Department of Biochemistry and Molecular Biology, The University of Texas Medical Branch at Galveston
- Mohammad Shboul
- Department of Medical Laboratory Sciences, Jordan University of Science and Technology
- Nathan D. Elrod
- Department of Biochemistry and Molecular Biology, The University of Texas Medical Branch at Galveston
- Laurence Colleaux
- Inserm UMR 1163, Institut Imagine
- Hanan Hamamy
- Department of Genetic Medicine and Development, University Hospital
- Kai-Lieh Huang
- Department of Biochemistry and Molecular Biology, The University of Texas Medical Branch at Galveston
- Natoya Peart
- Department of Biochemistry and Molecular Biology, The University of Texas Medical Branch at Galveston
- Moirangthem Kiran Singh
- Department of Biochemistry and Molecular Biology, The University of Texas Medical Branch at Galveston
- Hane Lee
- Department of Pathology and Laboratory Medicine, Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles
- Barry Merriman
- Department of Pathology and Laboratory Medicine, Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles
- Jeanne N. Jodoin
- Department of Cell and Developmental Biology, Vanderbilt University Medical Center
- Poojitha Sitaram
- Department of Cell and Developmental Biology, Vanderbilt University Medical Center
- Laura A. Lee
- Department of Pathology, Microbiology and Immunology, Vanderbilt University Medical Center
- Raja Fathalla
- National Center for Diabetes, Endocrinology and Genetics
- Baeth Al-Rawashdeh
- Faculty of Medicine, Hospital of the University of Jordan, University of Jordan
- Osama Ababneh
- Faculty of Medicine, Hospital of the University of Jordan, University of Jordan
- Mohammad El-Khateeb
- National Center for Diabetes, Endocrinology and Genetics
- Nathalie Escande-Beillard
- Department of Medical Genetics, KOÇ University
- Stanley F. Nelson
- Department of Pathology and Laboratory Medicine, Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles
- Yixuan Wu
- Department of Biological Sciences, Columbia University
- Liang Tong
- Department of Biological Sciences, Columbia University
- Linda J. Kenney
- Department of Biochemistry and Molecular Biology, The University of Texas Medical Branch at Galveston
- Sudipto Roy
- Institute of Molecular and Cell Biology, A*STAR
- William K. Russell
- Department of Biochemistry and Molecular Biology, The University of Texas Medical Branch at Galveston
- Jeanne Amiel
- Service de Génétique, Institut Imagine
- Bruno Reversade
- Department of Medical Genetics, KOÇ University
- Eric J. Wagner
- Department of Biochemistry and Molecular Biology, The University of Texas Medical Branch at Galveston
- DOI
- https://doi.org/10.1038/s41467-022-33547-8
- Journal volume & issue
-
Vol. 13,
no. 1
pp. 1 – 17
Abstract
The integrator complex is required for the synthesis of protein coding and non-coding RNA and contains the protein INTS13. Here, the authors find germline mutations in INTS13 in two families with oral facial digital syndrome and show that the mutation affects the c-terminal domain of the protein and disrupts cilliogenesis.
