In this week's Nature, a team led by University of California, Los Angeles, researchers presents a post-mortem genome-wide transcriptome analysis of brain samples from individuals with autism spectrum disorder, identifying genome-wide changes in non-coding RNA, splicing, and regional gene expression patterns. Specifically, the team found autism-associated dysregulation of primate-specific long noncoding RNAs, downregulation of the alternative splicing of activity-dependent neuron-specific exons, and attenuation of normal differences in gene expression between the frontal and temporal lobes. They also uncovered that a genetically defined subtype of autism spectrum disorder shares the same basic transcriptomic signature as idiopathic autism. The results highlight how diverse genetic changes can lead to phenotypic convergence in a complex neuropsychiatric disorder.
And in Nature Genetics, an international research team reports the creation of a high-quality reference genome for the Japanese flounder, providing insights into the extreme morphologic asymmetry of flatfish. By comparing this fish's genome to that of another, related flatfish, and by conducting transcriptomic analyses during the metamorphosis stage of the flounder's development — when one eye migrates from one side of the body to the other — the researchers were able to uncover a role for thyroid hormone and retinoic acid signaling, as well as for phototransduction pathways, in the eye migration. The findings not only answer key questions about flatfish asymmetry, but provide clues about the mechanisms that control body shape in vertebrates. GenomeWeb has more on the flounder genome, here.
Also in Nature Genetics, a University of California, San Diego-led group presents a meta-analysis of genome-wide association studies, identifying six genetic loci associated with personality traits such as extroversion, agreeableness, conscientiousness, openness, and neuroticism. They also found that personality traits are correlated at the genetic level, with neuroticism showing an inverse association with the other traits, and described genetic links between personality traits and six psychiatric disorders. GenomeWeb also covers this study, here.