The 7472insC mtDNA mutation impairs 5' and 3' processing of tRNA(Ser(UCN))

Biochemical and Biophysical Research Communications
Marina ToompuuH T Jacobs

Abstract

The deafness-associated 7472insC mtDNA mutation was previously shown to decrease the steady-state level of tRNA(Ser(UCN)) post-transcriptionally. To identify the affected tRNA maturation step(s) we analysed the effects of the mutation on processing in vivo and in vitro. tRNA(Ser(UCN)) from cybrid cells homoplasmic for 7472insC contained a high frequency (>11%) of molecules misprocessed at one or both termini. In vitro assays using partially purified HeLa cell RNase P and mitochondrial tRNA 3' processing endonuclease (tRNase Z) confirmed that the efficiency of both 5' and 3' processing was impaired. A mutant precursor not already processed at the 5' end was poorly processed in vitro by tRNase Z. Misprocessing at the 3' end further impaired the efficiency and accuracy of 5' processing of the mutant substrate. The mutation thus appears to affect several distinct, but interdependent, RNA processing steps, with the predicted outcome dependent on the exact processing pathway operating in vivo.

References

Apr 9, 1981·Nature·S AndersonI G Young
Nov 1, 1995·American Journal of Otolaryngology·N Fischel-GhodsianM Maw
Mar 27, 1999·European Journal of Human Genetics : EJHG·K VerhoevenG Van Camp
Apr 7, 1999·Journal of Molecular Biology·M NashimotoR L Kaspar
Mar 4, 2000·Human Molecular Genetics·G V BörnerS Pääbo
Apr 25, 2000·Nucleic Acids Research·A S Reichert, M Mörl
Jul 11, 2001·Biochemistry·S SchifferA Marchfelder
Aug 16, 2001·The Journal of Biological Chemistry·T NagaikeT Ueda
Oct 11, 2001·Biological Chemistry·H SchürerM Mörl
Nov 17, 2001·Molecular and Cellular Biology·W Rossmanith, T Potuschak
Jun 13, 2002·The Journal of Biological Chemistry·Anna NadalJordi Gómez
Nov 30, 2002·Biochimie·Mathias BrännvallLeif A Kirsebom
Jul 2, 2003·Current Opinion in Structural Biology·Michael E Harris, Eric L Christian
Aug 21, 2003·Human Molecular Genetics·Howard T Jacobs
Jan 13, 2004·Nucleic Acids Research·Edward B DubrovskyAnita Marchfelder

❮ Previous
Next ❯

Citations

Apr 23, 2013·Biochemical Genetics·Yu DingPan Xu
Oct 13, 2004·Nucleic Acids Research·Louis LevingerCatherine Florentz
Apr 27, 2010·Journal of Biomedical Science·Anna M CzarneckaAndrzej Kukwa
Feb 8, 2005·Biochemical and Biophysical Research Communications·Xiaoming LiMin-Xin Guan
May 11, 2007·Clinical Genetics·H KokotasP J Willems
Jan 14, 2012·Human Mutation·Nicolás Gutiérrez CortésChristophe Rocher
Mar 9, 2018·Nucleic Acids Research·Marina ToompuuHoward T Jacobs
Sep 4, 2018·International Journal of Pediatric Otorhinolaryngology·Faten MoassassWalid Al-Achkar
May 16, 2006·Biochimica Et Biophysica Acta·Julio MontoyaEduardo Ruiz-Pesini
Feb 24, 2015·Journal of the American Chemical Society·Anthony M MustoeCharles L Brooks

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.