Genetics of human brain development

Y Zhou, H Song, G Ming - Nature Reviews Genetics, 2024 - nature.com
Brain development in humans is achieved through precise spatiotemporal genetic control,
the mechanisms of which remain largely elusive. Recently, integration of technological …

Human neuronal maturation comes of age: cellular mechanisms and species differences

JL Wallace, AA Pollen - Nature Reviews Neuroscience, 2024 - nature.com
The delayed and prolonged postmitotic maturation of human neurons, compared with
neurons from other species, may contribute to human-specific cognitive abilities and …

Evolutionary constraint and innovation across hundreds of placental mammals

MJ Christmas, IM Kaplow, DP Genereux, MX Dong… - Science, 2023 - science.org
Zoonomia is the largest comparative genomics resource for mammals produced to date. By
aligning genomes for 240 species, we identify bases that, when mutated, are likely to affect …

[HTML][HTML] Protracted neuronal recruitment in the temporal lobes of young children

MA Nascimento, S Biagiotti, V Herranz-Pérez… - Nature, 2024 - nature.com
The temporal lobe of the human brain contains the entorhinal cortex (EC). This region of the
brain is a highly interconnected integrative hub for sensory and spatial information; it also …

Massively parallel characterization of regulatory elements in the developing human cortex

C Deng, S Whalen, M Steyert, R Ziffra, PF Przytycki… - Science, 2024 - science.org
Nucleotide changes in gene regulatory elements are important determinants of neuronal
development and diseases. Using massively parallel reporter assays in primary human cells …

[HTML][HTML] Massively parallel characterization of psychiatric disorder-associated and cell-type-specific regulatory elements in the developing human cortex

C Deng, S Whalen, M Steyert, R Ziffra, PF Przytycki… - bioRxiv, 2023 - ncbi.nlm.nih.gov
Nucleotide changes in gene regulatory elements are important determinants of neuronal
development and disease. Using massively parallel reporter assays in primary human cells …

In silico discovery of repetitive elements as key sequence determinants of 3D genome folding

LM Gunsalus, MJ Keiser, KS Pollard - Cell Genomics, 2023 - cell.com
Natural and experimental genetic variants can modify DNA loops and insulating boundaries
to tune transcription, but it is unknown how sequence perturbations affect chromatin …

Using a comprehensive atlas and predictive models to reveal the complexity and evolution of brain-active regulatory elements

HE Pratt, G Andrews, N Shedd, N Phalke, T Li… - Science …, 2024 - science.org
Most genetic variants associated with psychiatric disorders are located in noncoding regions
of the genome. To investigate their functional implications, we integrate epigenetic data from …

A molecular and cellular perspective on human brain evolution and tempo

FW Lindhout, FM Krienen, KS Pollard, MA Lancaster - Nature, 2024 - nature.com
The evolution of the modern human brain was accompanied by distinct molecular and
cellular specializations, which underpin our diverse cognitive abilities but also increase our …

[HTML][HTML] Rare variation in noncoding regions with evolutionary signatures contributes to autism spectrum disorder risk

T Shin, JHT Song, M Kosicki, C Kenny, SG Beck… - medRxiv, 2023 - ncbi.nlm.nih.gov
Little is known about the role of noncoding regions in the etiology of autism spectrum
disorder (ASD). We examined three classes of noncoding regions: Human Accelerated …