With the advent of sequencing technologies in recent years, hundreds of high-confidence risk genes have been implicated in neurodevelopmental disorders (NDDs). However, individuals carrying pathogenic...

Sex biases in admixture and other demographic processes are recurrent features throughout human evolution. For admixture between Neanderthals and anatomically modern humans (AMHs), sex bias has been p...

Abstract. Non-genetic variability in gene expression is an inevitable consequence of the stochastic nature of processes driving transcription and translati

Genome-wide association studies incorporating data for populations of African ancestry provide an expanded view of the genetic basis of schizophrenia, which has previously been studied mainly in European and East Asian cohorts.

Nitsch et al. show that short-chain acylations of histone H4K16, acetylation (C2), propionylation (C3), and butyrylation (C4) modulate chromatin structure in vitro. These effects can translate in vivo...

We conducted a CRISPR screen to identify genes essential for neural differentiation. By integrating these findings with mouse neuroanatomy, we demonstrated its utility in discovering a new PEDS1-relat...

Promise and pitfalls of using large biobanks to study impacts of archaic protein-coding variants in living humans.

The classic theory of mutation-selection balance predicts the equilibrium frequency of genetic variation under negative selection. The model predicts a simple relationship between the total frequency ...

Lead exposure, as influenced by NOVA1 expression, affected brain function in multiple hominid species.

When genetic interactions matter and when they don't

The International Brain Laboratory presents a brain-wide electrophysiological map obtained from pooling data from 12 laboratories that performed the same standardized perceptual decision-making task i...

The International Brain Laboratory presents a brain-wide electrophysiological map obtained from pooling data from 12 laboratories that performed the same standardized perceptual decision-making task i...

The Li lab mapped molecularly distinct Purkinje cell (PC) subtypes in 3D and linked them to adult cerebellar architecture. They found that Foxp1/Foxp2 are essential for PC diversity and that Foxp1+ PC...

The chromosomal protein SMCHD1 is a GHKL ATPase that plays important roles in epigenetic silencing, including on the inactive X chromosome (Xi) and at the D4Z4 macrosatellite linked to regulation of D...

Standard QTL mapping approaches consider variant effects on a single gene at a time, despite abundant evidence for allelic pleiotropy, where a single variant can affect multiple genes simultaneously. ...

We show that the X chromosome, understudied in genome-wide association studies, contributes to complex traits in a manner shaped by dosage-compensation mechanisms. We find near-full X inactivation bal...

Iron-deficient conditions in pregnant mice can cause XY mouse embryos to develop female rather than male genitalia, revealing that iron metabolism has a role in determining male sex in mice.

Autism spectrum disorder (ASD) is clinically heterogeneous, with ongoing debates about phenotypic differences between boys and girls. Leveraging the Get SET Early programme, Pierce and colleagues find...

Background Parental experience can influence progeny behavior through gamete-mediated non-genetic inheritance, that is, mechanisms that do not involve changes in inherited DNA sequence. However, under...

Building on a nucleosome-depletion strategy, DEFND-seq utilizes a droplet microfluidic platform to enable high-throughput co-profiling of DNA and RNA in single cells.

Transcription factors (TFs) establish cell identity during development by binding regulatory DNA in a sequence-specific manner, often promoting local chromatin accessibility, and regulating gene expre...

Sznajder et al. identified a molecular link between autism and myotonic dystrophy, showing that a tandem repeat mutation in a single gene can disrupt splicing of multiple autism-related genes during b...

Molecular Psychiatry - Brain circuits that regulate social behavior

Analysis of more than 95% of each diploid human genome of a four-generation, twenty-eight-member family using five complementary short-read and long-read sequencing technologies provides a truth set t...

Synaptic plasticity underlies learning by modifying specific synaptic inputs to reshape neural activity and behavior. However, the rules governing which synapses will undergo different forms of plasti...

A near-complete survey of transcription factor activities in Saccharomyces cerevisiae reveals that most transcription factors have both activator and repressor activities and limited overlap between t...

Exonic enhancers are a widespread class of dual-function regulatory elements https://t.co/Ho0TdalAsu #biorxiv_genomic

This study investigates gene expression variability in human neurodevelopmental conditions. Using single-cell analyses of brain cell types, we identify a significant increase in gene expression variability driven by trisomy 21 as well as CHD8 haploinsufficiency. Additional analyses ascertain core features of highly and least variable genes across independent datasets.

Neural development and brain circuit evolution converged in birds and mammals

Gene cis -regulatory sequences are increasingly recognised as containing “domesticated” transposable elements that impact their function. The KRAB Zinc Finger Protein (KZFP) family of transcription fa...

Trussina et al. demonstrate that the storage of mRNA molecules inside G3BP1-driven RNP granules facilitates the formation of RNA-RNA interactions, preventing the mRNA from being translated. The DEAD-b...

HYPOMAP integrates single-nucleus RNA sequencing and spatial transcriptomic data to create a comprehensive spatio-cellular map of the human hypothalamus.

Techniques for genome-wide epigenetic profiling have been undergoing accelerated development toward recovery of high-quality data from bulk and single cell samples. DNA-protein interactions have tradi...

Exploring the genetic influence of the X chromosome and sex differences in the human brain.

High-throughput experimental validation of genetic variants linked to eight psychiatric disorders reveals the regulatory mechanisms underlying variants with pleiotropic and disorder-specific effects.

Mutations in genes that encode subunits of the SWI/SNF chromatin remodelling complexes are found in more than 20% of cancers as well as in certain neurodevelopmental disorders. This Review discusses mechanisms...

Nature - A conserved gene regulatory network involving SOX4, SOX11 and TFAP2D shapes the development of excitatory neurons in ventrolateral pallium and their connectivity with the prefrontal cortex.