Formation of tRNA Wobble Inosine in Humans Is Disrupted by a Millennia-Old Mutation Causing Intellectual Disability-Reference-Cited by-同舟云学术

Formation of tRNA Wobble Inosine in Humans Is Disrupted by a Millennia-Old Mutation Causing Intellectual Disability

Published:2019-10 Issue:19 Volume:39 Page:
ISSN:0270-7306
Container-title:Molecular and Cellular Biology
language:en
Short-container-title:Mol Cell Biol

Author:

Ramos Jillian¹²^ORCID,Han Lu²³,Li Yan¹²,Hagelskamp Felix⁴,Kellner Stefanie M.⁴,Alkuraya Fowzan S.⁵⁶,Phizicky Eric M.²³,Fu Dragony¹²^ORCID

Affiliation:

1. Department of Biology, University of Rochester, Rochester, New York, USA

2. Center for RNA Biology, University of Rochester and University of Rochester Medical Center, Rochester, New York, USA

3. Department of Biochemistry and Biophysics, University of Rochester Medical Center, Rochester, New York, USA

4. Department of Chemistry, Ludwig Maximilians Universität München, Munich, Germany

5. Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

6. Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia

Abstract

The formation of inosine at the wobble position of eukaryotic tRNAs is an essential modification catalyzed by the ADAT2/ADAT3 complex. In humans, a valine-to-methionine mutation (V144M) in ADAT3 that originated ∼1,600 years ago is the most common cause of autosomal recessive intellectual disability (ID) in Arabia. While the mutation is predicted to affect protein structure, the molecular and cellular effects of the V144M mutation are unknown.

Funder

HHS | National Institutes of Health

National Science Foundation

King Abdulaziz City for Science and Technology

Publisher

American Society for Microbiology

Subject

Cell Biology,Molecular Biology

Link

https://journals.asm.org/doi/pdf/10.1128/MCB.00203-19

Reference77 articles.

1. tadA, an essential tRNA-specific adenosine deaminase from Escherichia coli