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This Week in Science: Aug 12, 2011

This week in Science Translational Medicine, the Hospital for Sick Children's Stephen Scherer and his colleagues report their use of million-feature genotyping arrays to identify de novo and rare copy-number variants in 248 unrelated attention deficit hyperactivity disorder patients. The team found CNVs affecting brain-expressed genes DCLK2, SORCS1, SORCS3, and MACROD2, as well as de novo and rare inherited CNVs previously implicated in other neurodevelopmental conditions, including autism spectrum disorder. Then, to investigate the extent of overlap between ADHD- and autism-associated risk variants, the team "used the same microarrays to test for rare CNVs in an independent, newly collected cohort of 349 unrelated individuals with a primary diagnosis of ASD [autism spectrum disorder]," it says, finding that "deletions of the neuronal ASTN2 and the ASTN2-intronic TRIM32 genes yielded the strongest association with ADHD and ASD, but numerous other shared candidate genes."

In a paper published online in advance in Science this week, a team led by investigators at the National Institutes of Health Vaccine Research Center report their use of X-ray crystallography and 454 pyrosequencing to characterize VRC01-like antibodies derived from HIV-1-infected individuals. "Broadly neutralizing HIV-1 immunity associated with VRC01-like antibodies thus involves the evolution of antibodies to a highly affinity-matured state required to recognize an invariant viral structure, with lineages defined from thousands of sequences providing genetic roadmaps of their development," the NIH-led team writes.

Elsewhere in this week's Science Express, the University of Michigan's Bethany Strunk et al. show that "ribosome assembly factors prevent premature translation initiation by 40S assembly intermediates." The team reports late-binding assembly factors that are "positioned to prevent each step in the translation initiation pathway," obstructing the binding sites of initiation factors, thus preventing the opening of the mRNA channel and disrupting the decoding site.

And in this week's issue, researchers at the Technische Universitaet Muenchen and elsewhere describe "an intrinsic, polymorphism-specific property of the β2AR [β2-adrenergic receptor] that alters activation kinetics upon continued stimulation and that may account for individual drug responses." In its paper, the TUM-led team describes polymorphic variants of the β2AR and how they affect activation kinetics.

The Scan

Fertility Fraud Found

Consumer genetic testing has uncovered cases of fertility fraud that are leading to lawsuits, according to USA Today.

Ties Between Vigorous Exercise, ALS in Genetically At-Risk People

Regular strenuous exercise could contribute to motor neuron disease development among those already at genetic risk, Sky News reports.

Test Warning

The Guardian writes that the US regulators have warned against using a rapid COVID-19 test that is a key part of mass testing in the UK.

Science Papers Examine Feedback Mechanism Affecting Xist, Continuous Health Monitoring for Precision Medicine

In Science this week: analysis of cis confinement of the X-inactive specific transcript, and more.