One of our goals for the redesign and relaunch of SFARI Gene is to keep users better informed about published papers that use the database to advance autism research in creative ways. Here are a few examples of how the database has been utilized and cited during the first half of 2017:
- Matthew Anderson and colleagues reported in Nature that the autism-associated gene Ube3a, together with seizures, affects social behavior in mice by downregulating expression of the synaptic protein Cbln1 in the midbrain ventral tegmental area. As part of their analysis, they showed that Cbln1 is a key component of a network of autism-associated genes that are highly ranked by the Gene Scoring module of SFARI Gene.
- Read more here: https://www.ncbi.nlm.nih.gov/pubmed/28297715
- Nature 543, 507-512 (2017)
- In a recent paper in Human Mutation, Chaolin Zhang and Yufeng Shen described the development and application of a new metric, the ?D-score,? which predicts whether individual gene-disrupting mutations confer risk of autism. Using the Gene Scoring module of SFARI Gene, they showed that genes with positive D-scores are enriched in the lists of genes classified by SFARI Gene as having more evidence associating them with autism.
- Read more here: https://www.ncbi.nlm.nih.gov/pubmed/27860035
- Hum. Mutat. 38, 204-215 (2017)
- In search of convergent mechanisms linking genetic forms of autism with autism that might involve alterations in maternal immune response during pregnancy, Michael Lombardo and colleagues analyzed changes in gene expression in the developing fetal brain in the ?maternal immune activation? (MIA) model of the disorder. Reporting in Molecular Psychiatry, they found a significant overlap of genes whose expression changes in response to maternal immune activation with those genes that are associated with strongly genetic forms of autism, in particular those genes ranked highly by the Gene Scoring module of SFARI Gene.
- Read more here: https://www.ncbi.nlm.nih.gov/pubmed/28322282
- Mol. Psychiatry doi: 10.1038/mp.2017.15 (2017)
- Irina Voineagu and colleagues followed up on published reports suggesting that interfering with the function of topoisomerase I reduces the neuronal expression of ?long? genes (genes more than 100 kilobases in length), including many genes implicated in autism. In a new paper in Genomics Data, they found that the same is true for astrocytes, and as many as 26 autism genes highly ranked by the gene scoring module of SFARI Gene show significant topoisomerase I-dependent changes in expression in this cell type. Of the 26 genes, 25 showed these changes only in astrocytes, not in neurons.
- Read more here: https://www.ncbi.nlm.nih.gov/pubmed/28119819
- Genom. Data 11, 113-115 (2016)
- Vitamin D deficiency has occasionally been suggested as a possible environmental risk factor for autism, but the molecular underpinnings of such an association have been unclear. Writing in the American Journal of Medical Genetics, and using SFARI Gene datasets, Kun Xia and colleagues reported that a curated set of vitamin D-related genes is enriched for known autism risk genes, and these genes are more frequently co-expressed than would be expected by chance.
- Read more here: https://www.ncbi.nlm.nih.gov/pubmed/28407358
- Am. J. Med. Genet. B Neuropsychiatr. Genet. doi: 10.1002/ajmg.b.32543 (2017)
