John Rubenstein
University of California-San Francisco, CA·Neuroscience
Faults in how the forebrain is built during development are linked to epilepsy, intellectual disability, autism and schizophrenia. Many of the cells involved are GABAergic neurons, which release the chemical GABA to calm or inhibit other neurons.
- Fields
Neuroscience
Genetics
Biology
- Topics
medial ganglionic eminence
GABAergic neurons
cortical interneurons
- Grants
- 1 known grant, through Dec 2030
What they work on
- Identify genes that differ across time and region in the medial ganglionic eminence (MGE) using enhancer-CreER mouse labeling and single-cell RNA-seq, and study Nfia/b/x and Tcf7l2 mutant mice.
- Map candidate regulatory elements that control gene activity during mouse MGE differentiation using histone and transcription-factor ChIP-seq and ATAC-seq.
- Profile human embryonic stem cell–derived MGE-like cells with epigenomic and transcriptomic methods, and compute gene regulatory networks that separate conserved from species-specific elements.
- Test the activity of candidate enhancers, both normal and versions mutated in autistic individuals, using in vitro assays, transgenic mice and AAV delivery to the mouse cortex.
More about the research
A large share of them come from the medial ganglionic eminence (MGE), a temporary region of the embryonic brain. The MGE produces projection neurons of the basal ganglia, such as those in the globus pallidus, and interneurons for the cortex, striatum and amygdala. Knowing the gene circuits that steer this process is needed to interpret gene variants found in people with neuropsychiatric disorders.
Why it matters
Defects in MGE-derived neurons can cause movement problems, epilepsy and cognitive and emotional disorders. Mapping the gene networks and enhancers that control these neurons could help researchers interpret DNA variants found in people with autism and other neuropsychiatric disorders. This could point to how changes in specific gene networks lead to disease.
Known grants
From NIH and NSF research grants. Labs often have other funding we can't see.
Closest labs
Jayson Smith
Syracuse University, NY·Genetics·Early-career
Test whether UNC-3 acts as both an activator and a repressor of neuronal identity genes, by validating the thousands of up- and downregulated genes found in single-cell RNA sequencing of adult wild-type and unc-3 mutant C. elegans cholinergic motor neurons.
Gordon J Fishell
Harvard University, MA·Neuroscience
Determine which target cells SST interneurons in granular versus infragranular cortical layers connect to, and how development sets up this selectivity, using anatomical and optogenetic circuit mapping.
Eran Andrechek
Michigan State University, MI·Genetics
Characterize mammary gland defects in mice lacking E2F5 only in mammary epithelial cells, including duct extension during puberty, alveolar development and involution.
The school
University of California-San Francisco: 89 labs on PI Pages, $2.1B a year on research, 164 research doctorates a year.
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