@article {319096, title = {Paired involvement of human-specific Olduvai domains and NOTCH2NL genes in human brain evolution}, journal = {Human Genetics}, volume = {138}, year = {2019}, month = {05/2019}, pages = {1-7}, abstract = {

Sequences encoding Olduvai (DUF1220) protein domains show the largest human-specific increase in copy number of any coding region in the genome and have been linked to human brain evolution. Most human-specific copies of Olduvai (119/165) are encoded by three NBPF genes that are adjacent to three human-specific NOTCH2NL genes that have been shown to promote cortical neurogenesis. Here, employing genomic, phylogenetic, and transcriptomic evidence, we show that these NOTCH2NL/NBPF gene pairs evolved jointly, as two-gene units, very recently in human evolution, and are likely co-regulated. Remarkably, while three NOTCH2NL paralogs were added, adjacent Olduvai sequences hyper-amplified, adding 119 human-specific copies. The data suggest that human-specific Olduvai domains and adjacent NOTCH2NL genes may function in a coordinated, complementary fashion to promote neurogenesis and human brain expansion in a dosage-related manner.

}, doi = { 10.1007/s00439-019-02018-4}, url = {https://link.springer.com/article/10.1007\%2Fs00439-019-02018-4}, author = {Fiddes, Ian T and Pollen, Alex A and Davis, Jonathan M and Sikela, James M} }