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Expression data of bone marrow-derived osteoclasts expressing wild-type or mutant PSS1

ABSTRACT: Phosphatidylserine (PS) is an acidic phospholipid that is involved in various cellular events. Heterologous dominant mutations have been identified in the gene encoding PS synthase 1 (PSS1) in patients of a congenital disease called Lenz-Majewski syndrome (LMS). LMS patients show various symptoms, including craniofacial/distal-limb bone dysplasia and progressive hyperostosis. The LMS-causing gain-of-function mutants of PSS1 (PSS1-LMS) have been shown to synthesize PS without control, but why the uncontrolled synthesis would lead to LMS is unknown. We investigated the effect of PSS1-LMS(Q353R) on osteoclasts to elucidate the causative mechanism of LMS and found that PSS1-LMS inhibited the formation, multinucleation, and activity of osteoclasts. We used microarrays to comprehensively examine the effects of PSS1-LMS on osteoclast gene expression.

ORGANISM(S): Mus musculus

PROVIDER: GSE207351 | GEO | 2022/07/04

REPOSITORIES: GEO

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