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FAMIN is a multifunctional purine enzyme enabling the purine nucleotide cycle (Macrophage RNA Seq dataset)

ABSTRACT: FAMIN (LACC1, C13orf31) loss-of-function causes systemic juvenile idiopathic arthritis and very early-onset inflammatory bowel disease, while a common I254V substitution results in hypomorphic function and increases susceptibility to Crohn’s disease and leprosy. In this study, we compare the mRNA transcriptional profiles of M0, M1 and M2-polarised bone marrow-derived macrophages from mice engineered at their endogenous locus to express human non-risk (Faminp.254I), risk (Faminp.254V) and monogenic (Faminp.284R) disease variants.

ORGANISM(S): Mus musculus

PROVIDER: GSE126641 | GEO | 2020/01/28

REPOSITORIES: GEO

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A purine metabolic checkpoint that prevents autoimmunity and autoinflammation (Dendritic cell RNA Seq dataset)

Project description:Mutations resulting in loss of FAMIN (C13orf31) cause systemic juvenile idiopathic arthritis and very early onset inflammatory bowel disease, while a common I254V substitution increases susceptibility to leprosy and Crohn’s disease. In this study, we compare mRNA transcriptional profiles of bone marrow-derived dendritic cells (DCs) from mice genetically engineered to express Faminp.254I (non-risk), Faminp.254V (risk variant) and Faminp.284R (mutant) at their endogenous loci. We also compare BMDCs from mice lacking FAMIN expression -/- (knockout, KO) with FAMIN+/+ (wild type, WT) mice.

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FAMIN Is a Multifunctional Purine Enzyme Enabling the Purine Nucleotide Cycle.

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FAMIN is a multifunctional purine enzyme enabling the purine nucleotide cycle (Macrophage RNA Seq dataset)

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