John Rubenstein, MD, PhD

Professor
Department of Psychiatry
[email protected]
+1 415 476-7872
Research Overview: 

We study the following processes in the development mouse forebrain:

  • Mechanisms governing regional and cell type specification within the cortex and basal ganglia.
  • Transcriptional hierarchies, including identification of gene regulatory elements (enhancers), which govern cell fate decisions in the cerebral cortex, basal ganglia, and hypothalamus.
  • Molecular mechanisms controling cell migration.
  • Genetic studies of human neurogenetic disorders, such as Autism and Epilepsy.
Primary Thematic Area: 
Neurobiology
Secondary Thematic Area: 
Developmental & Stem Cell Biology
Research Summary: 
Genetic Control of Development and Diseases of the Forebrain

Websites

Publications: 

Combinatorial transcription factor binding encodes cis-regulatory wiring of mouse forebrain GABAergic neurogenesis.

Developmental cell

Catta-Preta R, Lindtner S, Ypsilanti A, Seban N, Price JD, Abnousi A, Su-Feher L, Wang Y, Cichewicz K, Boerma SA, Juric I, Jones IR, Akiyama JA, Hu M, Shen Y, Visel A, Pennacchio LA, Dickel DE, Rubenstein JLR, Nord AS

Nr2f1 enhancers have distinct functions in controlling Nr2f1 expression during cortical development.

Proceedings of the National Academy of Sciences of the United States of America

Liu Z, Ypsilanti AR, Markenscoff-Papadimitriou E, Dickel DE, Sanders SJ, Dong S, Pennacchio LA, Visel A, Rubenstein JL

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

Nature

Chen Y, Dawes R, Kim HC, Ljungdahl A, Stenton SL, Walker S, Lord J, Lemire G, Martin-Geary AC, Ganesh VS, Ma J, Ellingford JM, Delage E, D'Souza EN, Dong S, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Bhatnagar I, Blair E, Brown NJ, Burrage LC, Chapman K, Coman DJ, Compton AG, Cunningham CA, D'Souza P, Danecek P, Délot EC, Dias KR, Elias ER, Elmslie F, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Goriely A, Grant CL, Haack T, Higgs JE, Hinch AG, Hurles ME, Kuechler A, Lachlan KL, Lalani SR, Lecoquierre F, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lindsay S, Lockhart PJ, Ma AS, Macnamara EF, Mansour S, Maurer TM, Mendez HR, Metcalfe K, Montgomery SB, Moosajee M, Nassogne MC, Neumann S, O'Donoghue M, O'Leary M, Palmer EE, Pattani N, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Shaw-Smith CJ, Simons C, Sisodiya SM, Snell P, St Clair L, Stark Z, Stewart HS, Tan TY, Tan NB, Temple SEL, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vasudevan P, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Wright CF, Xiao C, Zocche D, Rubenstein JL, Markenscoff-Papadimitriou E, Fica SM, Baralle D, Depienne C, MacArthur DG, Howson JMM, Sanders SJ, O'Donnell-Luria A, Whiffin N

Five autism-associated transcriptional regulators target shared loci proximal to brain-expressed genes.

Cell reports

Fazel Darbandi S, An JY, Lim K, Page NF, Liang L, Young DM, Ypsilanti AR, State MW, Nord AS, Sanders SJ, Rubenstein JLR

DLX genes and proteins in mammalian forebrain development.

Development (Cambridge, England)

Rubenstein JL, Nord AS, Ekker M