GSE126641
FAMIN is a multifunctional purine enzyme enabling the purine nucleotide cycle (Macrophage RNA Seq dataset)
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. Overall design: Bone marrow-derived macrophages were cultured from Faminp.254I (n=5), Faminp.254V (n=5) and Faminp.284R (n=5) mice, polarised to M0, M1 or M2 phenotype, and transcriptional profiles compared. Total RNA was extracted using the RNeasy Mini Kit (QIAGEN, 74104) in accordance with the manufacturer's instructions. Strand-specific single-end sequencing libraries were prepared using TruSeq Stranded mRNA kit (Illumina Inc.). Eleven libraries were sequenced at a time in one lane on an Illumina HiSeq4000. FastQ files were quality-checked (FastQC) and any residual adaptor sequences were removed (Cutadapt). Reads were then aligned to the reference genome (mm10, UCSC) using STAR.