Genetics

Genetic variant in 3’ untranslated region of the mouse pycard gene regulates inflammasome activity

1. Brian Ritchey
2. Qimin Hai
3. Juying Han
4. John Barnard
5. Jonathan D Smith

• Curated by eLife

  Evaluation Summary:

  Genetic differences in outbred species such as humans and differences in the epigenomic structure form the basis of the large variability in the immune response. This work demonstrates that a single nucleotide change in the gene encoding for the universal inflammasome adaptor protein ASC regulates mRNA stability of Pycard and thereby inflammasome function. A particular strength of the work is that the authors managed to show, using genetic alterations, that a single SNP in the Pycard gene sequence (rs33183533) between AKR and DBA/2 mice causes variation in inflammasome activity. Given the relevance of inflammasome for various human pathologies, this work is important for a broad readership.

  (This preprint has been reviewed by eLife. We include the public reviews from the reviewers here; the authors also receive private feedback with suggested changes to the manuscript. Reviewer #1 agreed to share their name with the authors.)

Reviewed by eLife

Missense variants in human ACE2 strongly affect binding to SARS-CoV-2 Spike providing a mechanism for ACE2 mediated genetic risk in Covid-19: A case study in affinity predictions of interface variants

1. Stuart A. MacGowan
2. Michael I. Barton
3. Mikhail Kutuzov
4. Omer Dushek
5. P. Anton van der Merwe
6. Geoffrey J. Barton

Reviewed by ScreenIT