AI Article Synopsis
- A study quantified structural variants (SVs) in 562 rhesus macaques, using advanced sequencing methods to identify significant genetic differences.
- It found that certain inversions in the genome are under strong selective pressure, suggesting they play crucial roles in regulating gene functions.
- Among these, 75 inversions were identified as human-specific, influencing brain development and cognitive abilities, highlighting how genetic changes shape human uniqueness.
Article Abstract
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 , 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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11092980 | PMC |
| http://dx.doi.org/10.1126/sciadv.adl4600 | DOI Listing |
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