The schizophrenia-associated gene CSMD1 encodes a complement classical pathway inhibitor predominantly expressed by astrocytes and at synapses in mice and humans.

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Tác giả: Robert A J Byrne, Sarah M Carpanini, Nikoleta Daskoulidou, Timothy R Hughes, Bryan Paul Morgan, Jacqui Nimmo, Lucy V Noble, Michael C O'Donovan, Megan Torvell, Aurora Veteleanu, Lewis M Watkins, Wioleta M Zelek

Ngôn ngữ: eng

Ký hiệu phân loại: 781.434 *Harmonization

Thông tin xuất bản: Netherlands : Brain, behavior, and immunity , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 727016

 CUB and sushi multiple domains 1 (CSMD1) is predominantly expressed in brain and robustly associated with schizophrenia risk
  however, understanding of which cells express CSMD1 in brain and how it impacts risk is lacking. CSMD1 encodes a large transmembrane protein including fifteen tandem short consensus repeats (SCRs), resembling complement C3 convertase regulators. CSMD1 complement regulatory activity has been reported and mapped to SCR17-21. We expressed two SCR domains of CSMD1, SCR17-21 and SCR23-26, and characterised their complement regulatory activity using a panel of functional assays testing convertase and terminal pathway inhibition. Both domains inhibited the classical pathway C3 convertase by acting as factor I cofactors
  neither domain caused any inhibition in alternative or terminal pathway assays. Novel anti-CSMD1 monoclonal antibodies cross-reactive with human and mouse CSMD1 were generated that detected endogenous CSMD1 in human and rodent brain
  immunostaining showed predominantly astrocyte and synaptic localisation of CSMD1, the latter confirmed using isolated synapses. Using iPSC-derived cells, astrocyte expression was confirmed and expression on cortical neurons demonstrated. We show that CSMD1 is a classical pathway-specific complement regulator expressed predominantly on astrocytes, neurons, and synapses in human and mouse brain. These findings will help reveal the mechanism by which CSMD1 impacts schizophrenia risk.
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