  Gene set enrichment analyses of 8,405 genes linked with 35,074 human-specific
(hs) regulatory single-nucleotide changes (SNCs) revealed the staggering
breadth of significant associations with morphological structures,
physiological processes, and pathological conditions of Modern Humans.
Significant enrichment traits include more than 1,000 anatomically-distinct
regions of the adult human brain, many different types of human cells and
tissues, more than 200 common human disorders and more than 1,000 records of
rare diseases. Thousands of genes connected with regulatory hsSNCs have been
identified in this contribution, which represent essential genetic elements of
the autosomal inheritance and survival of species phenotypes: a total of 1,494
genes linked with either autosomal dominant or recessive inheritance as well as
2,273 genes associated with premature death, embryonic lethality, as well as
pre-, peri-, neo-, and post-natal lethality of both complete and incomplete
penetrance. Therefore, thousands of heritable traits and critical genes
impacting the offspring survival appear under the human-specific regulatory
control in genomes of Modern Humans. These observations highlight the
remarkable translational opportunities afforded by the discovery of genetic
regulatory loci harboring hsSNCs that are fixed in humans, distinct from other
primates, and located in differentially-accessible (DA) chromatin regions
during human brain development.
