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CRISPR knockout screen implicates three genes in lysosome function.

Guy M Lenk1, Young N Park2, Rosemary Lemons2

  • 1Department of Human Genetics, University of Michigan, Ann Arbor, MI, 48109-5618, USA. glenk@umich.edu.

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|July 5, 2019
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Summary
This summary is machine-generated.

Defects in PI(3,5)P2 phospholipid biosynthesis cause neurological disorders. Researchers developed a new assay to identify genes causing lysosomal vacuolization, revealing novel genetic links to lysosome dysfunction.

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Area of Science:

  • Cell Biology
  • Genetics
  • Neuroscience

Background:

  • Lysosomal vacuolization is linked to neurological disorders due to defective PI(3,5)P2 phospholipid biosynthesis.
  • Accumulation of large, lysosome-derived vacuoles characterizes these conditions.

Purpose of the Study:

  • To develop a novel assay for identifying genetic causes of lysosomal vacuolization.
  • To screen for genes involved in endolysosomal dysfunction using this new assay.

Main Methods:

  • Developed a cell sorting assay to detect enlarged lysosomes.
  • Performed a genome-wide knockout screen in human HAP1 cells.
  • Validated novel candidate genes (C10orf35, LRRC8A, MARCH7) through knockout cell line analysis.

Main Results:

  • The assay successfully identified known (VAC14) and novel genes associated with vacuolization.
  • Knockout cell lines for C10orf35, LRRC8A, and MARCH7 exhibited enlarged, acidic, LAMP2-positive vesicles.
  • These findings confirm endolysosomal dysfunction in the validated gene knockouts.

Conclusions:

  • The developed assay is effective for identifying genes involved in lysosomal vacuolization.
  • C10orf35, LRRC8A, and MARCH7 are newly identified genes linked to lysosome dysfunction.
  • The assay can be adapted for evaluating patient variants and for drug screening for lysosomal disorders.