| First Author | Ding W | Year | 2024 |
| Journal | Sci Adv | Volume | 10 |
| Issue | 14 | Pages | eadl4600 |
| PubMed ID | 38579006 | Mgi Jnum | J:353315 |
| Mgi Id | MGI:7640919 | Doi | 10.1126/sciadv.adl4600 |
| Citation | Ding W, et al. (2024) Adaptive functions of structural variants in human brain development. Sci Adv 10(14):eadl4600 |
| abstractText | Quantifying the structural variants (SVs) in nonhuman primates could provide a niche to clarify the genetic backgrounds underlying human-specific traits, but such resource is largely lacking. Here, we report an accurate SV map in a population of 562 rhesus macaques, verified by in-house benchmarks of eight macaque genomes with long-read sequencing and another one with genome assembly. This map indicates stronger selective constrains on inversions at regulatory regions, suggesting a strategy for prioritizing them with the most important functions. Accordingly, we identified 75 human-specific inversions and prioritized them. The top-ranked inversions have substantially shaped the human transcriptome, through their dual effects of reconfiguring the ancestral genomic architecture and introducing regional mutation hotspots at the inverted regions. As a proof of concept, we linked APCDD1, located on one of these inversions and down-regulated specifically in humans, to neuronal maturation and cognitive ability. We thus highlight inversions in shaping the human uniqueness in brain development. |
