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Genetics - GEG Tech top picks
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Translational Psychiatry explores the more translational area between the research in neuroscience and conceptually novel treatments
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In this study, the authors investigated the contribution of epigenetic factors HDAC1 and DAXX to the developmental perturbation hypothesized to underlie schizophrenia (SZ). For this purpose, they designed lentiviral vectors carrying short hairpin RNA interference (shRNAi) for HDAC1 and DAXX. Their results point to a key role of both HDAC1 and DAXX in the regulation of GAD67 in GABAergic HiB5 cells, strongly suggesting that these epigenetic/transcription factors contribute to mechanisms underlying GABA cell dysfunction in SZ. 
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Pet project hunts genetic links to behaviour by polling owners on their companions’ quirks.
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In expanding our knowledge of how the brain controls the process of sexual development, researchers have identified, for the first time, members of an elaborate superfamily of genes that regulate the timing of puberty in highly evolved nonhuman primates.
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Matthew Freedman and colleagues show that androgen receptor (AR) binding sites undergo extensive reprogramming during prostate epithelial transformation. They further show that FOXA1 and HOXB13 colocalize at reprogrammed AR binding sites in human tumor tissue and are able to reprogram the AR cistrome of an immortalized prostate cell line to resemble that of prostate tumors.
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One gene mutation in a single species can trigger dramatic changes in whole biological communities, new research shows. These changes can be as great as those caused by the extinction of a top predator.
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In this study, the authors used a pool of shRNA lentiviral vectors to do in vivo screening of 84 candidate oncogenes and 39 candidate tumor-suppressor genes , located within 28 recurrent chromosomal alterations in ependymoma.
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The scientists show that Sleeping Beauty (SB) transposon-mediated mutagenesis drives melanoma progression in BrafV600E mutant mice and identify 1,232 recurrently mutated candidate cancer genes (CCGs) from 70 SB-driven melanomas.
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Genes have jumped species from viruses, bacteria, and other organisms. That’s the conclusion of a new study, which provides some of the broadest evidence yet that, throughout evolutionary history, genes from other branches of life have become part of animal cells.
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Stephen Rich and colleagues report the discovery and fine mapping of type 1 diabetes susceptibility loci using the Immunochip. They also perform comparative analyses with 15 other immune disorders and find evidence of colocalization of causal variants with lymphoid gene enhancers.
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Johannes Lemke, Holger Lerche and colleagues report the identification of de novo mutations in the potassium channel gene KCNA2 in patients with epileptic encephalopathies. The authors confirm in vitro that two mutations cause dominant loss of channel function, whereas the other two mutations induce gain-of-function effects, leading to permanently open channels.
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The most well-studied epigenetic mark is methylation of cytosine, and in fact 5-methylcytosine (the attachment of a methyl group to the fifth atom in the six-atom ring, counting counterclockwise from the nitrogen at the bottom) was the only known type of methylation in mammalian cells, according to GenomeWeb. But researchers from Yale University have documented that mammalian adenine bases can also carry methylation marks. The team published its results this week (March 3) in Nature.
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A massive genetic study has sketched out a molecular link between schizophrenia and how the brain is shaped in adolescence.
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Fathers are able to adjust to increasing temperatures within their own lifetime and do transmit this information to their offspring. This has now been shown for the first time in a wild animal.
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Thanks to the CRISPR systaem, Paul Khavari and colleagues analyze tumor genomes to identify snoRNAs showing frequent copy number loss of adjacently encoded snoRNAs SNORD50A and SNORD50B. These snoRNAs directly bound K-Ras and their loss leads to increased activity of both wild-type and oncogenic K-Ras and is associated with reduced survival.
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The timing of protein pulses might play an overlooked role in cellular life.
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Competing mice reveal genetic defects: Genes thought redundant can play different roles, impair mice
A sensitive new toxicity test detected impaired reproduction in mice caused by genetic mutations that had seemed harmless when studied by developmental techniques.
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Stephan Zuchner, Taosheng Huang and colleagues show that recessive mutations in SLC25A46 cause optic atrophy with additional neurological symptoms. They further show that SLC25A46 encodes a modified mitochondrial solute transporter linked to mitochondrial dynamics.
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Jose Martin-Subero and colleagues report the whole-genome bisulfite sequencing of ten blood cell subpopulations representing the cellular stages during B cell differentiation. They find that early stages are characterized by enhancer demethylation and that neoplasms derived from B cell lineages undergo methylation changes in regions with dynamic methylation during normal differentiation.
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Most mutations that compromise meiotic recombination or synapsis in mouse spermatocytes result in arrest and apoptosis at the pachytene stage of the first meiotic prophase. Two main mechanisms are thought to trigger arrest: one independent of the double-strand ...
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The scientists show that Sleeping Beauty transposon-mediated mutagenesis drives melanoma progression in Braf(V600E) mutant mice and identify 1,232 recurrently mutated candidate cancer genes (CCGs) from 70 SB-driven melanomas.
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Drosophila has almost all transcription factor binding specificities available to humans; and human transcription factors with divergent specificities operate in cell types that are not found in fruit flies.
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A team of researchers from the Perelman School of Medicine at the University of Pennsylvania have shed new light on how the structure of regulatory sequences in DNA is packaged in a cell.