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Following the Dynamics of Structural Variants in Experimentally Evolved Populations
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Some pathogenic SETX variants are partially conserved during evolution.

Huma Tariq1, Iqra Tariq2, Thomas Bourinaris3

  • 1Department of Neurogenetics, UCL Institute of Neurology, Queen Square House, University College London, London, United Kingdom; School of Biological Sciences, University of the Punjab, Lahore, Pakistan.

Gene
|December 17, 2020
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Summary

Two new pathogenic variants in the SETX gene were identified in patients with ataxia with oculomotor apraxia type 2. This expands the known genetic causes of this rare neurological disorder.

Keywords:
AOA2Amino acid conservationAtaxiaPakistanSenataxin

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Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Variants in the SETX gene are associated with human neurological disorders, including ataxia with oculomotor apraxia type 2 (AOA2) and amyotrophic lateral sclerosis (ALS4).
  • SETX gene variants can be inherited in either recessive or dominant patterns.

Purpose of the Study:

  • To identify and characterize novel pathogenic variants in the SETX gene.
  • To expand the known allelic spectrum of SETX variants associated with ataxia with oculomotor apraxia type 2.
  • To investigate the relationship between SETX variant pathogenicity and amino acid evolutionary conservation.

Main Methods:

  • Genetic analysis of patients diagnosed with ataxia with oculomotor apraxia type 2.
  • Identification and characterization of bi-allelic pathogenic variants in the SETX gene.
  • Comparative analysis of amino acid conservation across orthologous genes.

Main Results:

  • Two novel bi-allelic pathogenic variants in the SETX gene were identified in patients with ataxia with oculomotor apraxia type 2.
  • The findings extend the spectrum of known SETX variants associated with this condition.
  • Pathogenicity of some SETX variants may be linked to the evolutionary conservation status of affected amino acids, even if not fully conserved.

Conclusions:

  • The study identifies new genetic variants contributing to ataxia with oculomotor apraxia type 2, broadening the understanding of SETX-related disorders.
  • The findings highlight the complex relationship between genetic variation, protein function, and disease, even for amino acids with varying evolutionary conservation.