Description
Basement membranes (BMs) are ubiquitous extracellular matrices whose composition remains elusive, limiting our understanding of BM regulation and function. By developing a bioinformatic and in vivo discovery pipeline, we define a network of over 220 human proteins localized to BMs. More than 100 BM-network genes associate with human phenotypes and by screening over 63,000 germline genomic sequences from families with rare disorders, we discovered novel predicted loss-of-function variants in MATN2. Biochemical analyses suggest that MATN2 interacts with many BM proteins, and we found that depletion of MATN2 affected levels of core BM components in human podocyte-derived extracellular matrix.
Date made available | 2022 |
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Publisher | PRoteomics IDEntifications Database |
Date of data production | 1 Aug 2022 |
Keywords
- Q Exactive HF
- podocyte
- human
- Shotgun mass spectrometry
- MATN2
Equipment
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Biological Mass Spectrometry (BioMS) Facility
Knight, D. (Platform Lead), Warwood, S. (Senior Technical Specialist), Selley, J. (Technical Specialist), Taylor, G. (Technical Specialist), Fullwood, P. (Technical Specialist), Keevill, E.-J. (Senior Technician) & Allsey, J. (Technician)
FBMH Platform Sciences, Enabling Technologies & InfrastructureFacility/equipment: Facility