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Complex autoimmune diseases such as rheumatoid arthritis, systemic lupus erythematosus, type 1 diabetes, multiple sclerosis, psoriasis and inflammatory bowel disease have different pathological presentations but have overlapping genetic susceptibility variants. A new study using mice lacking Tnfaip3, whose ortholog is linked to autoimmune disease in humans, leads to insights in the role of one molecular driver of varied clinical symptomatology in disparate autoimmune disorders.
Advances in both pedigree-based and population-based genetic maps in recent years have helped unravel some of the mysteries of human meiotic recombination. The publication of the first admixture-derived human genetic maps offers a new approach for inferring recombination events and provides insight into variation in recombination rate patterns across populations.
The US Department of Health and Human Services (DHHS) is proposing to enhance federal regulation intended to protect human research subjects, in particular to increase measures aimed at security of personal data. Since the ethical review process is partially based on respect for people and their autonomy, harmonization of these rules will be a process of convincing individuals and their states to accept uniform standards that give enough privacy but do not lock away personal data from either research participants or researchers.
A new study shows that the PTPN22 coding variant associated with autoimmunity is a loss-of-function allele that causes the protein tyrosine phosphatase encoded by PTPN22 to undergo accelerated degradation, resulting in enhanced signaling in several immune cell types.
Thomas Wiesner and colleagues report that germline mutations in BAP1 predispose to melanocytic tumors ranging histopathologically from epithelioid nevi to atypical melanocytic proliferations. Some BAP1 mutation carriers also developed uveal or cutaneous melanomas.
Joseph Testa, Michele Carbone and colleagues report that germline mutations in BAP1 predispose to malignant mesothelioma and uveal melanoma. They further hypothesize that mesothelioma predominates in BAP1 mutation carriers following exposure to asbestos.
Detlef Weigel and colleagues report results from the first phase of the Arabidopsis 1001 Genomes Project, based on short-read sequencing of 80 geographically diverse strains. This collection of strains has been made available to the scientific community, and the authors show that the identified polymorphisms in these strains can be useful for imputation and genome-wide association studies.
John Chambers and colleagues report a genome-wide association study for type 2 diabetes in individuals of south Asian ancestry. They identify six loci newly associated with type 2 diabetes.
The Brassica rapa Genome Sequencing Project Consortium reports the draft genome of the B. rapa accession Chiifu-401-42, an inbred Chinese cabbage line. The B. rapa genome should provide a useful reference genome for the Brassica species, which include many important oil and vegetable crops.
Duncan Odom and colleagues map Pol III occupancy genome-wide in liver tissue from six mammals. The analysis showed variable binding of Pol III at individual tRNA genes that nevertheless led to conserved expression of amino acid isotypes.
Alexander van Oudenaarden and colleagues examine microRNA-mediated regulation of gene expression using single-cell measurements of a target gene's expression. They find that microRNAs can repress gene expression either as a switch or through fine-tuning and that the strength of repression can vary widely between cells.
Huai-Dong Song and colleagues report results of a genome-wide association study of Graves' disease. They confirm four previously reported risk loci for this disease and identify two new susceptibility loci at 4p14 and 6q27.
Evan Eichler and colleagues analyze copy number variation in 15,767 children with intellectual disability, developmental delay, congenital birth defects and/or other related phenotypes. They identify 59 likely pathogenic CNV regions, including 14 new candidate regions, and estimate that ~14% of disorders in this sample collection are caused by large CNVs.
Katherine Siminovitch and colleagues show that mice expressing the autoimmune disease–associated Ptpn22 coding variant show thymic and splenic enlargement and lymphocyte and dendritic cell hyperresponsiveness. They further show that the variant promotes degradation of the protein, suggesting that it enhances autoimmune disease risk through a loss-of-function mechanism.
Geert van Loo, Rudi Beyaert, Dirk Elewaut and colleagues report that myeloid-specific deletion of Tnfaip3 in mice causes spontaneous destructive polyarthritis that resembles rheumatoid arthritis. Tnfaip3 encodes the A20 protein, which is involved in negative regulation of NF-κB signaling in response to proinflammatory stimuli.
Leslie Biesecker and colleagues report exome sequencing of an individual with combined malonic and methylmalonic aciduria (CMAMMA). With follow-up sequencing of an additional eight cases, they confirm ACSF3 as a cause of CMAMMA. They further report a canine model for CMAMMA that has a mutation in a putative ACSF3 ortholog.
