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This Week in Science: Apr 1, 2016

In Science this week, a multi-institute team of researchers applied cutting-edge genetic sequencing technologies to the gorilla genome, creating the most accurate genome for the great ape to date. Using long-read sequencing technology and a combination of algorithms, the researchers constructed a genome for the Western lowland gorilla with a 96 percent reduction in contigs compared with a previous genome assembly. The investigators also closed 94 percent of the more than 433,000 sequence gaps in the earlier genome. A comparison of the new genome and human genome assemblies revealed about 117,500 insertions and deletions and nearly 700 inversion variants — more than 86 percent of which were previously unidentified. GenomeWeb has more on the gorilla genome here.

Also in Science, a group of US and Spanish scientists report on the discovery of a long non-coding RNA that may be involved in celiac disease. Specifically, the team identified an lncRNA that suppresses the expression of pro-inflammatory genes in immune cells and was found to be downregulated in people with the disorder. Levels of the lncRNA were lower in the presence of NF-kappa B, indicating that it is continuously transcribed as a stable lncRNA and that it is degraded by the transcription factor's signaling. Additional investigation uncovered other components of the lncRNA than suppress pro-inflammatory genes. GenomeWeb also covers this here.

And in Science Translational Medicine, two research teams published data pointing to mutations in an established oncogene called PIK3CA, which regulates cell growth and survival, that may be responsible for a common vascular abnormality, venous malformations, in certain patients. Venous malformations are characterized by large and distorted blood vessels that grow, bleed, and can obstruct organs. Mutations in a gene called TEK are known to cause about half of nonhereditary venous malformations, but the genetics behind the other half are unknown. In their respective studies, the researchers found that PIK3CA is mutated in about 25 percent of patients with venous malformations, who also lack TEK alterations. The groups also found that the PIK3CA mutation caused endothelial cells to grow uncontrolled, forming abnormal clusters and faulty blood vessels. Altogether, the data suggest that cancer drugs targeting PIK3CA may prove useful for treating patients with venous malformations.