Table 1.
List of Aicardi–Goutières syndrome (AGS) predictor genes upregulated in AGS cases as compared to unaffected controls. Genes are ranked following the intensity of the difference in the expression between AGS cases and controls (AGS/control ratio).
| Gene name | GenBank | AGS/controls ratio | Function and notes |
|---|---|---|---|
| Cathepsin D | NM_001909 | ↑10.7 (2.1–20.8) | Proteolysis and peptidolysis lysosomal aspartyl The Val‐58 allele is significantly overrepresented in demented patients compared with non‐demented controls. Carriers of the Val‐58 allele have a 3.1‐fold increased risk for developing Alzheimer disease than non‐carriers. |
| YG40‐1A | AJ227864 | ↑9.5 (1.8–19.5) | Abundant protein normally expressed mainly in leukocytes Actin‐bindling protein Actin cytoskeleton Calcium ion binding |
| Histone deacetylase 3 | NM_003883 | ↑6.7 (2.5–15.0) | Gene‐transcription activator. Anti‐apoptotic Responsible for the deacetylation of lysine residues on the N‐terminal part of the core histones (H2A, H2B, H3 and H4). Plays an important role in transcriptional regulation, cell cycle progression. |
| Ganglioside expression factor 2 (GEF2) | NM_007285 | ↑6.3 (1.2–9.8) | Proteolysis and peptidolysis. Involved in intra‐Golgi traffic. Microtubule organizing center. GABA(A) receptor‐associated protein‐like 2. |
| KIAA0367 | AB002365 | ↑5.7 (1.4–8.7) | |
| SEC22 (vesicle trafficking protein sec22b) | NM_004892 | ↑5.5 (1.3–7.8) | Involved in endoplasmic reticulum/Golgi membrane trafficking. Involved in exocytosis, phagocytisis, endocytisis. |
| Choline dehydrogenase | AJ272267 | ↑4.7 (1.2–7.0) | Polysaccharide metabolism. Betaine biosynthesis from choline. Electron transport, FAD (Flavin Adenin Dinucleotide) binding. |
| Interferon (IFN) receptor 1 | X60459 | ↑4.0 (1.3–6.1) | Receptor for IFNs alpha and beta. Binding to type I IFNs triggers tyrosine phosphorylation of a number of proteins including JAKs, TYK2, STAT proteins and IFNR alpha‐ and beta‐ subunits themselves. Cytokine receptor family II member. |
| Thrombospondin type I (THSD1) | NM_018676 | ↑3.6 (1.1–5.8) | Defense response. Brain angiogenesis inhibitor. Naturally occurring angiostatic factors inhibiting angiogenesis in vivo. Thrombospondin network specific variant for brain |
| IFN‐alpha 8 | NM_002170 | ↑3.5 (2.1–7.1) | IFN‐alpha subtype leukocyte |
| DnaJ‐like heat shock protein 40 | NM_006260 | ↑3.5 (1.5–7.9) | IFN‐induced, double‐stranded RNA‐activated protein kinase inhibitor. Activated in response to viral infections |
| Clone YR58F06 | AF085936 | ↑3.4 (1.1–5.2) | Transcription. Hematopietic cell diffentiation |
| Brain Specific Angiogenesis Inhibitor 2 (BAI2) | NM_001703 | ↑3.0 (1.2–5.8) | Brain specific angiogenesis inhibitor |
| IFRG28 (28kD IFN responsive protein) | AJ251832 | ↑2.9 (1.8–5.7) | Induced by IFNs |
| Hyaluronoglucosaminidase 3 | NM_003549 | ↑2.7 (1.1–4.3) | Glycosaminoglycan catabolism IFN‐related protein. IFN‐related developmental regulator Carbohydrate metabolism Hyalurononglucosaminidase activity Cell differentiation Cell proliferation |
| Myosin‐IF | X98411 | ↑2.6 (1.4–4.4) | Cytoskeleton organization and biogenesis. Actin‐based motor molecules with ATPase activity Calmodulin binding Microfilament motor activity |
| Cystatin F | NM_003650 | ↑2.4 (1.1–4.1) | Leukocystatin playing a role in immune regulation through inhibition Cysteine protease inhibitor activity |
| IFN‐induced cellular resistance protein | M30818 | ↑2.3 (1.3–4.2) | IFN‐induced GTP‐binding protein Mx2. Belongs to the dynamin family |
| IFN related factor 3 | NM_001571 | ↑2.3 (1.1–4.3) | Mediates IFN‐stimulated response element (ISRE) promoter activation. Functions as a molecular switch for antiviral activity |
| Interleukin‐13 receptor | U62858 | ↑2.1 (1.0–3.4) | Binds IL13 with a low affinity. Together with IL4R‐alpha can form a functional receptor for IL13. Also serves as an alternate accessory protein to the common cytokine receptor gamma chain for IL4 signaling |
| IFN related factor 7 | NM_004031 | ↑2.0 (1.1–3.2) | Transcriptional activator. Binds to the ISRE in IFN promoters. Functions as a molecular switch for antiviral activity. Activated by phosphorylation in response to infection. Induced by type I IFNs |