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Hyman, S.

Publications and source records attributed to Hyman, S..

3 recordsLinked to original sources

Light gates hormonal modulation of threat avoidance in female mice

Animals must constantly calibrate the costs and benefits of exploration of an environment based on expectations of danger. These decisions are strongly shaped by past experience of perceived threats within that environment and by internal state, which is strongly modulated by circulating gonadal hormones. Although the circuits underlying threat detection are relatively well characterized, how sex hormones shape the long-term behavioral consequences of prior threat experience, and whether this differs across sexes, remains unknown. Here, we show that female mice, like males, exhibit robust long-term threat avoidance (LTTA), avoiding a location where they previously experienced a single visual threat. However, we find that in females this behavior shows strong modulation by the estrous cycle. Surprisingly, we find that though male and female LTTA is driven through glutamate release by the melanopsin-projecting intrinsically photosensitive retinal ganglion cells (ipRGCs) in the thalamic perihabenular nucleus, disruption of this circuit drives completely opposing effects on male versus female LTTA. Moreover, hormonal modulation of LTTA in females requires functional ipRGC input. Thus, despite similar circuit architecture and behavioral outcomes, the individual components of the LTTA circuit play opposing roles in shaping this behavior in males and females, and female LTTA is further tuned by hormonal status.

neuroscience↗

The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia

To study how the 22q11.2 deletion predisposes to psychiatric disease, we generated induced pluripotent stem cells from deletion carriers and controls, as well as utilized CRISPR/Cas9 to introduce the heterozygous deletion into a control cell line. Upon differentiation into neural progenitor cells, we found the deletion acted in trans to alter the abundance of transcripts associated with risk for neurodevelopmental disorders including Autism Spectrum Disorder. In more differentiated excitatory neurons, altered transcripts encoded presynaptic factors and were associated with genetic risk for schizophrenia, including common (per-SNP heritability p ({tau}c)= 4.2 x 10-6) and rare, loss of function variants (p = 1.29x10-12). These findings suggest a potential relationship between cellular states, developmental windows and susceptibility to psychiatric conditions with different ages of onset. To understand how the deletion contributed to these observed changes in gene expression, we developed and applied PPItools, which identifies the minimal protein-protein interaction network that best explains an observed set of gene expression alterations. We found that many of the genes in the 22q11.2 interval interact in presynaptic, proteasome, and JUN/FOS transcriptional pathways that underlie the broader alterations in psychiatric risk gene expression we identified. Our findings suggest that the 22q11.2 deletion impacts genes and pathways that may converge with risk loci implicated by psychiatric genetic studies to influence disease manifestation in each deletion carrier.

neuroscience↗

Comparative genetic architectures of schizophrenia in East Asian and European populations

Author summarySchizophrenia is a severe psychiatric disorder with a lifetime risk of about 1% world-wide. Most large schizophrenia genetic studies have studied people of primarily European ancestry, potentially missing important biological insights. Here we present a study of East Asian participants (22,778 schizophrenia cases and 35,362 controls), identifying 21 genome-wide significant schizophrenia associations in 19 genetic loci. Over the genome, the common genetic variants that confer risk for schizophrenia have highly similar effects in those of East Asian and European ancestry (rg=0.98), indicating for the first time that the genetic basis of schizophrenia and its biology are broadly shared across these world populations. A fixed-effect meta-analysis including individuals from East Asian and European ancestries revealed 208 genome-wide significant schizophrenia associations in 176 genetic loci (53 novel). Trans-ancestry fine-mapping more precisely isolated schizophrenia causal alleles in 70% of these loci. Despite consistent genetic effects across populations, polygenic risk models trained in one population have reduced performance in the other, highlighting the importance of including all major ancestral groups with sufficient sample size to ensure the findings have maximum relevance for all populations.

genetics↗