An evolutionary perspective on complex neuropsychiatric disease

JM McClellan, AW Zoghbi, JD Buxbaum, C Cappi… - Neuron, 2024 - cell.com
The forces of evolution—mutation, selection, migration, and genetic drift—shape the genetic
architecture of human traits, including the genetic architecture of complex neuropsychiatric …

Functional neurogenomics in autism spectrum disorders: A decade of progress

LK Bicks, DH Geschwind - Current Opinion in Neurobiology, 2024 - Elsevier
Advances in autism spectrum disorder (ASD) genetics have identified many genetic causes,
reflecting remarkable progress while at the same time identifying challenges such as …

Cross-ancestry atlas of gene, isoform, and splicing regulation in the developing human brain

C Wen, M Margolis, R Dai, P Zhang, PF Przytycki… - Science, 2024 - science.org
Neuropsychiatric genome-wide association studies (GWASs), including those for autism
spectrum disorder and schizophrenia, show strong enrichment for regulatory elements in the …

Whole-brain in vivo base editing reverses behavioral changes in Mef2c-mutant mice

WK Li, SQ Zhang, WL Peng, YH Shi, B Yuan… - Nature …, 2024 - nature.com
Whole-brain genome editing to correct single-base mutations and reduce or reverse
behavioral changes in animal models of autism spectrum disorder (ASD) has not yet been …

Embryonic origin of two ASD subtypes of social symptom severity: the larger the brain cortical organoid size, the more severe the social symptoms

E Courchesne, V Taluja, S Nazari, CM Aamodt… - Molecular Autism, 2024 - Springer
Background Social affective and communication symptoms are central to autism spectrum
disorder (ASD), yet their severity differs across toddlers: Some toddlers with ASD display …

Molecular cascades and cell type–specific signatures in ASD revealed by single-cell genomics

B Wamsley, L Bicks, Y Cheng, R Kawaguchi… - Science, 2024 - science.org
Genomic profiling in postmortem brain from autistic individuals has consistently revealed
convergent molecular changes. What drives these changes and how they relate to genetic …

Transcriptional cartography integrates multiscale biology of the human cortex

K Wagstyl, S Adler, J Seidlitz, S Vandekar, TT Mallard… - Elife, 2024 - elifesciences.org
The cerebral cortex underlies many of our unique strengths and vulnerabilities, but efforts to
understand human cortical organization are challenged by reliance on incompatible …

The Mef2c gene dose-dependently controls hippocampal neurogenesis and the expression of autism-like behaviors

S Basu, EJ Ro, Z Liu, H Kim, A Bennett… - Journal of …, 2024 - Soc Neuroscience
Mutations in the activity-dependent transcription factor MEF2C have been associated with
several neuropsychiatric disorders. Among these, autism spectrum disorder (ASD)-related …

Developmental isoform diversity in the human neocortex informs neuropsychiatric risk mechanisms

A Patowary, P Zhang, C Jops, CK Vuong, X Ge, K Hou… - Science, 2024 - science.org
RNA splicing is highly prevalent in the brain and has strong links to neuropsychiatric
disorders; yet, the role of cell type–specific splicing and transcript-isoform diversity during …

Histone variant H2BE enhances chromatin accessibility in neurons to promote synaptic gene expression and long-term memory

ER Feierman, S Louzon, NA Prescott, T Biaco, Q Gao… - Molecular Cell, 2024 - cell.com
Histone proteins affect gene expression through multiple mechanisms, including through
exchange with histone variants. Recent findings link histone variants to neurological …