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Archive - Dec 7, 2012

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Combining Two Genome Analysis Approaches Supports Immune System Contribution to Autism

Researchers using novel approaches and methodologies of identifying genes that contribute to the development of autism have found evidence that disturbances in several immune-system-related pathways contribute to development of autism spectrum disorders. The report published December 4, 2012 in the open-access journal PLoS ONE powerfully supports a role for the immune function in autism by integrating analysis of autism-associated DNA sequence variations with that of markers identified in studies of families affected by autism. "Others have talked about immune function contributions to autism, but in our study immune involvement has been identified through a completely nonbiased approach," says Vishal Saxena, Ph.D., of the Massachusetts General Hospital (MGH) Department of Neurology, first, corresponding, and co-senior author of the PLoS ONE paper. "We let the data tell us what was most important; and most tellingly, viral infection pathways were most important in this immune-related mechanism behind autism." Genetic studies of families including individuals with autism have indentified linkages with different locations in the genome. Since traditional interpretation methods implicate the gene closest to a marker site as the cause of a condition, those studies appeared to point to different genes affecting different families. However, Saxena's team realized that, because autism has typical symptoms and affects the same biological processes, a common molecular physiology must be affecting the different families studied. To search for genetic pathways incorporating these autism-associated sites, they developed a methodology called Linkage-ordered Gene Sets (LoGS) that analyzes all of the genes within a particular distance from marker sites and ranks them according to their distance from the marker. Dr.

Relationship Found between Cancer Genes and the Reprogramming Gene SOX2

A team of researchers from the Spanish National Cancer Research Centre (CNIO), led by Dr. Manuel Serrano, from the Tumour Suppression Group, together with scientists from London and Santiago de Compostela, has discovered that the cellular reprogramming gene SOX2, which is involved in several types of cancers, such as lung cancer and pituitary cancer, is directly regulated by the tumor suppressor CDKN1B(p27) gene, which is also associated with these types of cancer. The same December 7, 2012 edition of Cell Stem Cell also includes a study led by Dr. Massimo Squatrito, who recently joined the CNIO to direct the Seve Ballesteros Foundation Brain Tumour Group. This study, carried out in Dr. Eric C. Holland's laboratory, at the Memorial Sloan Kettering Cancer Center (MSKCC), in New York, shows the relationship between MEF, a gene regulator involved in glioblastomas - the most aggressive and common brain tumors -, and SOX2. The cell reprogramming process, discovered by this year's Nobel Prize co-winner, Dr. Shinya Yamanaka, has become a powerful tool for researchers. Via the introduction of a cocktail of four genes, among them SOX2, into cells, scientists can reprogram cells and transform them into stem cells which can be used to study a variety of processes, including cancer. The research team led by Dr. Serrano and Dr. Manuel Collado was interested in the possible role of the tumor suppressor gene CDKN1B(p27) in reprogramming. During the course of these studies, Dr. Han Li, first author of the study, unexpectedly discovered that cells deficient in the CDKN1B(p27) gene could be reprogrammed without the need to introduce SOX2. This observation was the starting point to unravel the functional relationship between the two genes. The work led by Dr. Squatrito, in which Dr.