Journal article

Effect of MUC1 length polymorphisms on the NLRP3 inflammasome response of human macrophages

Poshmaal Dhar, Sohinee Sarkar, Garrett Z Ng, Paul Kalitsis, Muhammad A Saeed, Michael A McGuckin, Justine A Ellis, Philip Sutton

Human Immunology | ELSEVIER SCIENCE INC | Published : 2019


Mucin 1 is a cell-membrane associated mucin, expressed on epithelial and immune cells that helps protect against pathogenic infections. In humans, MUC1 is highly polymorphic, predominantly due to the presence of a variable number tandem repeat (VNTR) region in the extracellular domain that results in MUC1 molecules of typically either short or long length. A genetic link is known between these MUC1 polymorphisms and inflammation-driven diseases, although the mechanism is not fully understood. We previously showed that MUC1 on murine macrophages specifically restricts activation of the NLRP3 inflammasome, thereby repressing inflammation. This study evaluated the effect of MUC1 VNTR polymorphi..

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Awarded by National Health and Medical Research Council

Funding Acknowledgements

We thank Professor Anne-Louise Ponsonby for her contributions to the recruitment of the healthy child participants as part of the Paediatric AutoImmune Disorder (PAID) research platform. This work was supported by the Victorian Government's Operational Infrastructure Support Program, and National Health and Medical Research Council project grant GNT1046254. PD was supported by a Victoria India Doctoral Scholarship. JAE was supported by an Australian Research Council Future Fellowship.