Repeat-Associated Non-ATG Translation in Neurological Diseases

Tao Zu; Amrutha Pattamatta; Laura P W Ranum

doi:10.1101/cshperspect.a033019

Repeat-Associated Non-ATG Translation in Neurological Diseases

Cold Spring Harb Perspect Biol. 2018 Dec 3;10(12):a033019. doi: 10.1101/cshperspect.a033019.

Authors

Tao Zu^{1

2}, Amrutha Pattamatta^{1

2}, Laura P W Ranum^{1

2

3

4}

Affiliations

¹ Center for Neuro-Genetics, University of Florida, Gainesville, Florida 32610.
² Departments of Molecular Genetics and Microbiology, University of Florida, Gainesville, Florida 32610.
³ Departments of Neurology, College of Medicine, University of Florida, Gainesville, Florida 32610.
⁴ Genetics Institute, University of Florida, Gainesville, Florida 32610.

Abstract

More than 40 different neurological diseases are caused by microsatellite repeat expansions that locate within translated or untranslated gene regions, including 5' and 3' untranslated regions (UTRs), introns, and protein-coding regions. Expansion mutations are transcribed bidirectionally and have been shown to give rise to proteins, which are synthesized from three reading frames in the absence of an AUG initiation codon through a novel process called repeat-associated non-ATG (RAN) translation. RAN proteins, which were first described in spinocerebellar ataxia type 8 (SCA8) and myotonic dystrophy type 1 (DM1), have now been reported in a growing list of microsatellite expansion diseases. This article reviews what is currently known about RAN proteins in microsatellite expansion diseases and experiments that provide clues on how RAN translation is regulated.

Publication types

Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review

MeSH terms

Central Nervous System Diseases / genetics*
Genetic Predisposition to Disease
Humans
Microsatellite Repeats
Protein Biosynthesis / genetics*

Abstract

Publication types

MeSH terms

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