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 …

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 …

Leveraging base-pair mammalian constraint to understand genetic variation and human disease

PF Sullivan, JRS Meadows, S Gazal, BDN Phan, X Li… - Science, 2023 - science.org
Thousands of genomic regions have been associated with heritable human diseases, but
attempts to elucidate biological mechanisms are impeded by an inability to discern which …

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 …

[HTML][HTML] Machine-guided design of synthetic cell type-specific cis-regulatory elements

SJ Gosai, RI Castro, N Fuentes, JC Butts, S Kales… - bioRxiv, 2023 - ncbi.nlm.nih.gov
Cis-regulatory elements (CREs) control gene expression, orchestrating tissue identity,
developmental timing, and stimulus responses, which collectively define the thousands of …

[HTML][HTML] LOXL2 in cancer: a two-decade perspective

A Cano, P Eraso, MJ Mazón, F Portillo - International Journal of Molecular …, 2023 - mdpi.com
Lysyl Oxidase Like 2 (LOXL2) belongs to the lysyl oxidase (LOX) family, which comprises
five lysine tyrosylquinone (LTQ)-dependent copper amine oxidases in humans. In 2003 …

Seeing humans through an evolutionary lens

IG Romero - Science, 2023 - science.org
One of the foundational aims of human genetics is understanding the genetic causes of
human traits, with a particular focus on disease. Two decades after the publication of the …

A multi-million-year natural experiment: Comparative genomics on a massive scale and its implications for human health

I Rivas-González, J Tung - Evolution, Medicine, and Public …, 2024 - academic.oup.com
Improving the diversity and quality of genome assemblies for non-human mammals has
been a long-standing goal of comparative genomics. The last year saw substantial progress …

Generation of chimpanzee induced pluripotent stem cell lines for cross-species comparisons

M Imamura, R Nakai, M Ohnuki, Y Hamazaki… - In Vitro Cellular & …, 2024 - Springer
As humans' closest living relatives, chimpanzees offer valuable insights into human
evolution. However, technical and ethical limitations hinder investigations into the molecular …

[HTML][HTML] CpG island turnover events predict evolutionary changes in enhancer activity

AA Kocher, EV Dutrow, S Uebbing, KM Yim… - Genome Biology, 2024 - Springer
Background Genetic changes that modify the function of transcriptional enhancers have
been linked to the evolution of biological diversity across species. Multiple studies have …