PLX127946

GSE83381: Immune-restricted epigenetic reader SP140 maintains macrophage identity and activation states critical to intestinal homeostasis [RNA-seq]

• Organsim human
• Type RNASEQ
• Target gene
• Project ARCHS4

Introduction: SP140 is a bromodomain/plant homeo domain (PHD)-containing reader with immune-restricted expression, and single nucleotide polymorphisms (SNPs) within SP140 associate with Crohns disease (CD). However, the function of SP140 and the consequences of disease-associated SP140 SNPs have remained unknown.; Results: Individuals carrying CD-associated SNPs within SP140 had defective SP140 mRNA splicing, diminished SP140 protein, and severely suppressed innate immune signatures that stratified them from other CD patients.; Conclusion: SP140 is a critical orchestrator of macrophage identity, and a loss of SP140 due to genetic variation contributes to a molecularly defined subset of CD characterized by suppressed innate immunity.; SOURCE: Lorena Pantano (lpantano@hsph.harvard.edu) - Bioinformatic Core Harvard Chan School of Public Health