Seasonal changes in the uptake capacity of the suprachiasmatic nucleus for3H-serotonin

Summary The suprachiasmatic nucleus, a hypothalamic center important in mediation of circadian and estrous cycles, is shown in adult rats to have seasonal changes in its uptake capacity in vitro for³H-serotonin.Supported in part by grants from the National Institute of Mental Health (MH-25091), the National Institute of Health (HD-10263, HD-03352, 5-T01-HD00104-10), USPHS, and the Ford Foundation (grant No. 630-0505 B, C).     

Effect of high lipid diet on circadian rhythms of tissue glycogen

Summary The well defined circadian rhythms of glycogen content in heart, diaphragm and liver of the rat are drastically altered by a high lipid diet as shown by changes in amplitude, phase and tissue glycogen levels. If sampling times had been restricted to certain hours of the day the profound effect of the high fat diet on tissue glycogen would not have been apparent.Supported by USPHS grants HL 16041-03 and HL 07094-03.     

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

Multiple studies have confirmed the contribution of rare de novo copy number variations to the risk for autism spectrum disorders. But whereas de novo single nucleotide variants have been identified in affected individuals, their contribution to risk has yet to be clarified. Specifically, the frequency and distribution of these mutations have not been well characterized in matched unaffected controls, and such data are vital to the interpretation of de novo coding mutations observed in probands. Here we show, using whole-exome sequencing of 928 individuals, including 200 phenotypically discordant sibling pairs, that highly disruptive (nonsense and splice-site) de novo mutations in brain-expressed genes are associated with autism spectrum disorders and carry large effects. On the basis of mutation rates in unaffected individuals, we demonstrate that multiple independent de novo single nucleotide variants in the same gene among unrelated probands reliably identifies risk alleles, providing a clear path forward for gene discovery. Among a total of 279 identified de novo coding mutations, there is a single instance in probands, and none in siblings, in which two independent nonsense variants disrupt the same gene, SCN2A (sodium channel, voltage-gated, type II, α subunit), a result that is highly unlikely by chance.