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Genomic Analysis of Non-NF2 Meningiomas Reveals Mutations in TRAF7, KLF4, AKT1, and SMO
Genetic analysis of 300 meningiomas, the most common primary brain tumors, leads to the discovery of mutations in TRAF7, a proapoptotic E3 ubiquitin ligase, in nearly one-fourth of all mening iomas, suggesting avenues for targeted therapeutics.
Sequencing and Analysis of Neanderthal Genomic DNA
The characterization of Neanderthals from a new perspective is described, based on the development of a Neanderthal metagenomic library and its high-throughput sequencing and analysis, and the finding that the Neanderthal and human genomes are at least 99.5% identical is found.
Coexpression Networks Implicate Human Midfetal Deep Cortical Projection Neurons in the Pathogenesis of Autism
Accelerated Evolution of Conserved Noncoding Sequences in Humans
The results indicate that widespread cis-regulatory changes in human evolution may have contributed to uniquely human features of brain development and function.
The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment
This work identifies genes targeted by CHD8, a chromodomain helicase strongly associated with ASD, in human midfetal brain, human neural stem cells (hNSCs) and embryonic mouse cortex, and suggests loss of CHD 8 contributes to ASD by perturbing an ancient gene regulatory network during human brain development.
The Evolution of Lineage-Specific Regulatory Activities in the Human Embryonic Limb
Human-Specific Gain of Function in a Developmental Enhancer
In transgenic mice, a conserved noncoding sequence (HACNS1) that evolved extremely rapidly in humans acted as an enhancer of gene expression that has gained a strong limb expression domain relative to the orthologous elements from chimpanzee and rhesus macaque.
Comparative DNA sequence analysis of mouse and human protocadherin gene clusters.
A comparative DNA sequence analysis of the orthologous human and mouse protocadherin gene clusters identified conserved DNA sequences upstream of the variable region exons, and found that these sequences are more conserved between orthologs than between paralogs.
Gene conversion and the evolution of protocadherin gene cluster diversity.
It is proposed that the combination of lineage-specific duplication, restricted gene conversion, and adaptive variation in diversified ectodomains drives vertebrate protocadherin cluster evolution.
Chromatin state signatures associated with tissue-specific gene expression and enhancer activity in the embryonic limb.
The results establish histone modification profiling as a tool for developmental enhancer discovery, and suggest that enhancers maintain an open chromatin state in multiple embryonic tissues independent of their activity level.