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Saccharomyces cerevisiae Sen1 as a Model for the Study of Mutations in Human Senataxin that Elicit Cerebellar Ataxia

Xin Chen, Ulrika Müller, Kaitlin E. Sundling and David A. Brow
Genetics Early online August 12, 2014; https://doi.org/10.1534/genetics.114.167585
Xin Chen
University of Wisconsin-Madison
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Ulrika Müller
University of Wisconsin-Madison
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Kaitlin E. Sundling
University of Wisconsin-Madison
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David A. Brow
University of Wisconsin-Madison
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Abstract

The nuclear RNA and DNA helicase Sen1 is essential in the yeast Saccharomyces cerevisiae and is required for efficient termination of RNA polymerase II transcription of many short non-coding RNA genes. However, the mechanism of Sen1 function is not understood. We created a plasmid-based genetic system to study yeast Sen1 in vivo. Using this system, we show that: 1) the minimal essential region of Sen1 corresponds to the helicase domain and one of two flanking nuclear localization sequences, 2) a previously isolated terminator read-through mutation in the Sen1 helicase domain, E1597K, is rescued by a second mutation designed to restore a salt bridge within the first RecA domain, and 3) the human ortholog of yeast Sen1, Senataxin, cannot functionally replace Sen1 in yeast. Guided by sequence homology between the conserved helicase domains of Sen1 and Senataxin, we tested the effects of 13 missense mutations that co-segregate with the inherited disorder ataxia with oculomotor apraxia type 2 on Sen1 function. Ten of the disease mutations resulted in transcription read-through of at least one of three Sen1-dependent termination elements tested. Our genetic system will facilitate the further investigation of structure-function relationships in yeast Sen1 and its orthologs.

  • Transcription termination
  • cerebellar ataxia
  • helicase
  • neurodegeneration
  • yeast genetics
  • Received June 20, 2014.
  • Accepted August 11, 2014.
  • Copyright © 2014, The Genetics Society of America
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Volume 208 Issue 4, April 2018

Genetics: 208 (4)

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Saccharomyces cerevisiae Sen1 as a Model for the Study of Mutations in Human Senataxin that Elicit Cerebellar Ataxia

Xin Chen, Ulrika Müller, Kaitlin E. Sundling and David A. Brow
Genetics Early online August 12, 2014; https://doi.org/10.1534/genetics.114.167585
Xin Chen
University of Wisconsin-Madison
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Ulrika Müller
University of Wisconsin-Madison
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Kaitlin E. Sundling
University of Wisconsin-Madison
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David A. Brow
University of Wisconsin-Madison
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  • Find this author on PubMed
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  • For correspondence: dabrow@wisc.edu
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Citation

Saccharomyces cerevisiae Sen1 as a Model for the Study of Mutations in Human Senataxin that Elicit Cerebellar Ataxia

Xin Chen, Ulrika Müller, Kaitlin E. Sundling and David A. Brow
Genetics Early online August 12, 2014; https://doi.org/10.1534/genetics.114.167585
Xin Chen
University of Wisconsin-Madison
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Ulrika Müller
University of Wisconsin-Madison
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Kaitlin E. Sundling
University of Wisconsin-Madison
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  • Find this author on PubMed
  • Search for this author on this site
David A. Brow
University of Wisconsin-Madison
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  • Find this author on PubMed
  • Search for this author on this site
  • For correspondence: dabrow@wisc.edu

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