Genetics of human brain development
Brain development in humans is achieved through precise spatiotemporal genetic control,
the mechanisms of which remain largely elusive. Recently, integration of technological …
the mechanisms of which remain largely elusive. Recently, integration of technological …
Evolutionary constraint and innovation across hundreds of placental mammals
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 …
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
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 …
attempts to elucidate biological mechanisms are impeded by an inability to discern which …
An evolutionary perspective on complex neuropsychiatric disease
The forces of evolution—mutation, selection, migration, and genetic drift—shape the genetic
architecture of human traits, including the genetic architecture of complex neuropsychiatric …
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 …
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 …
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 …
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 …
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 …
evolution. However, technical and ethical limitations hinder investigations into the molecular …
[HTML][HTML] CpG island turnover events predict evolutionary changes in enhancer activity
Background Genetic changes that modify the function of transcriptional enhancers have
been linked to the evolution of biological diversity across species. Multiple studies have …
been linked to the evolution of biological diversity across species. Multiple studies have …