A Mouse Mutation That Dysregulates Neighboring and Genes Is Associated with Phenotypes Related to the Human AUTS2 Syndrome.

was originally discovered as the gene disrupted by a translocation in human twins with Autism spectrum disorder, intellectual disability, and epilepsy. Since that initial finding, -linked mutations and variants have been associated with a very broad array of neuropsychiatric disorders, sugg esting that is required for fundamental steps of neurodevelopment. However, genotype-phenotype correlations in this region are complicated, because most mutations could also involve neighboring genes.

Transcriptional regulatory dynamics drive coordinated metabolic and neural response to social challenge in mice.

Agonistic encounters are powerful effectors of future behavior, and the ability to learn from this type of social challenge is an essential adaptive trait. We recently identified a conserved transcriptional program defining the response to social challenge across animal species, highly enriched in transcription factor (TF), energy metabolism, and developmental signaling genes. To understand the trajectory of this program and to uncover the most important regulatory influences controlling this response, we integrated gene expression data with the chromatin landscape in the hypothalamus, frontal cortex, and amygdala of socially challenged mice over time.

Neuromolecular responses to social challenge: common mechanisms across mouse, stickleback fish, and honey bee.

Certain complex phenotypes appear repeatedly across diverse species due to processes of evolutionary conservation and convergence. In some contexts like developmental body patterning, there is increased appreciation that common molecular mechanisms underlie common phenotypes; these molecular mechanisms include highly conserved genes and networks that may be modified by lineage-specific mutations. However, the existence of deeply conserved mechanisms for social behaviors has not yet been demonstrated.

A reciprocal translocation dissects roles of Pax6 alternative promoters and upstream regulatory elements in the development of pancreas, brain, and eye.

Pax6 encodes a transcription factor with key roles in the development of the pancreas, central nervous system, and eye. Gene expression is orchestrated by several alternative promoters and enhancer elements that are distributed over several hundred kilobases. Here, we describe a reciprocal translocation, called 1Gso, which disrupts the integrity of transcripts arising from the 5'-most promoter, P0, and separates downstream promoters from enhancers active in pancreas and eye.

The burdens of uninsured hospitalizations in an urban county.

Context: Few data at the level of local health jurisdictions are available to characterize health problems specific to persons without health insurance.

Practice Pattern Examined: Hospitalization patterns of residents of DeKalb County, Georgia, who have no health insurance.

Data Source: 1996 Georgia hospital discharge records for persons living within ZIP code areas included in or overlapping with DeKalb County.

A method for stabilising technetium-99m exametazime prepared from a commercial kit.

Technetium-99m exametazime (99mTc-d,l-HMPAO), prepared by the reconstitution of the Ceretec kit, is widely used in the investigation of regional cerebral blood flow. The radiochemical purity specification of not less than 80% lipophilic complex requires that the kit is used within 30 min of reconstitution. In certain circumstances this imposes restrictions on its clinical availability.

Technetium-99m d,l-HM-PAO: a new radiopharmaceutical for SPECT imaging of regional cerebral blood perfusion.

Following investigation of a large number of new ligands based upon propylene amine oxime (PnAO) the d,l-diastereoisomer of hexamethyl propyleneamine oxime (HM-PAO) was selected as the preferred ligand for 99mTc as a tracer for cerebral perfusion imaging. The neutral, lipophilic 99mTc complex of d,l-HM-PAO was formed in high yield by stannous reduction of 99Mo/99mTc generator eluate using a kit formulation of the ligand. Two minutes following i.