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] Single-cell epigenomics reveals mechanisms of human cortical development

RS Ziffra, CN Kim, JM Ross, A Wilfert, TN Turner… - Nature, 2021 - nature.com
During mammalian development, differences in chromatin state coincide with cellular
differentiation and reflect changes in the gene regulatory landscape. In the developing brain …

Proper acquisition of cell class identity in organoids allows definition of fate specification programs of the human cerebral cortex

A Uzquiano, AJ Kedaigle, M Pigoni, B Paulsen… - Cell, 2022 - cell.com
Realizing the full utility of brain organoids to study human development requires
understanding whether organoids precisely replicate endogenous cellular and molecular …

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

Y Chen, R Dawes, HC Kim, A Ljungdahl, SL Stenton… - Nature, 2024 - nature.com
Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed
after comprehensive genetic testing, primarily of protein-coding genes. Large genome …

Cerebral organoids as an experimental platform for human neurogenomics

TJ Nowakowski, SR Salama - Cells, 2022 - mdpi.com
The cerebral cortex forms early in development according to a series of heritable
neurodevelopmental instructions. Despite deep evolutionary conservation of the cerebral …

Single-cell multi-omics sequencing of human spermatogenesis reveals a DNA demethylation event associated with male meiotic recombination

Y Huang, L Li, G An, X Yang, M Cui, X Song, J Lin… - Nature Cell …, 2023 - nature.com
Human spermatogenesis is a highly ordered process; however, the roles of DNA
methylation and chromatin accessibility in this process remain largely unknown. Here by …

Contributions of epigenetic inheritance to the predisposition of major psychiatric disorders: Theoretical framework, evidence, and implications

RB Varela, JH Cararo, SJ Tye, AF Carvalho… - Neuroscience & …, 2022 - Elsevier
Susceptibility to psychiatric disorders seems to be influenced by environmental disturbances
throughout all stages of life. Epigenetics is described as a key “bridge” between gene and …

Three-dimensional genome rewiring in loci with human accelerated regions

KC Keough, S Whalen, F Inoue, PF Przytycki, T Fair… - Science, 2023 - science.org
Human accelerated regions (HARs) are conserved genomic loci that evolved at an
accelerated rate in the human lineage and may underlie human-specific traits. We …

[HTML][HTML] Functional enhancer elements drive subclass-selective expression from mouse to primate neocortex

JK Mich, LT Graybuck, EE Hess, JT Mahoney, Y Kojima… - Cell reports, 2021 - cell.com
Viral genetic tools that target specific brain cell types could transform basic neuroscience
and targeted gene therapy. Here, we use comparative open chromatin analysis to identify …

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 …