Single-cell genomics identifies cell type–specific molecular changes in autism

Author:

Velmeshev Dmitry12ORCID,Schirmer Lucas134ORCID,Jung Diane12,Haeussler Maximilian5ORCID,Perez Yonatan12,Mayer Simone126ORCID,Bhaduri Aparna12ORCID,Goyal Nitasha127,Rowitch David H.1389ORCID,Kriegstein Arnold R.12ORCID

Affiliation:

1. Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, CA 94143, USA.

2. Department of Neurology, University of California, San Francisco, CA 94158, USA.

3. Department of Pediatrics, University of California, San Francisco, CA 94143, USA.

4. Department of Neurology, Medical Faculty Mannheim, University of Heidelberg, 68167 Mannheim, Germany.

5. Genomics Institute, University of California, Santa Cruz, CA, USA.

6. Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.

7. Department of Molecular and Cell Biology, University of California, Berkeley, CA, USA.

8. Department of Paediatrics and Wellcome Trust–MRC Cambridge Stem Cell Institute, University of Cambridge, Cambridge CB2 0QQ, UK.

9. Department of Neurosurgery, University of California, San Francisco, CA 94143, USA.

Abstract

Brain cell transcriptomes in autism Autism manifests in many ways. Despite that diversity, the disorder seems to affect specific cellular pathways, including those observed in the neocortex of patients' brains. Velmeshev et al. analyzed the transcriptomes of single brain cells, including neurons and glia, from patients with autism. Single-nucleus RNA sequencing analysis suggested that affected pathways regulate synapse function as well as neural outgrowth and migration. Furthermore, in patient samples, specific sets of genes enriched in upper-layer projection neurons and microglia correlated with clinical severity. Science , this issue p. 685

Funder

National Institute of Mental Health

National Human Genome Research Institute

Simons Foundation

California Institute for Regenerative Medicine

Silicon Valley Community Foundation

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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