| First Author | Berasain L | Year | 2024 |
| Journal | Sci Adv | Volume | 10 |
| Issue | 26 | Pages | eadl1049 |
| PubMed ID | 38924416 | Mgi Jnum | J:360870 |
| Mgi Id | MGI:7661952 | Doi | 10.1126/sciadv.adl1049 |
| Citation | Berasain L, et al. (2024) Accelerated evolution in the human lineage led to gain and loss of transcriptional enhancers in the RBFOX1 locus. Sci Adv 10(26):eadl1049 |
| abstractText | A long-standing goal of evolutionary biology is to decode how changes in gene regulatory networks contribute to human-specific traits. Human accelerated regions (HARs) are prime candidates for driving gene regulatory modifications in human development. The RBFOX1 locus is densely populated with HARs, providing a set of potential regulatory elements that could have changed its expression in the human lineage. Here, we examined the role of RBFOX1-HARs using transgenic zebrafish reporter assays and identified 15 transcriptional enhancers that are active in the developing nervous system, 9 of which displayed differential activity between the human and chimpanzee sequences. The engineered loss of two selected RBFOX1-HARs in knockout mouse models modified Rbfox1 expression at specific developmental stages and tissues in the brain, influencing the expression and splicing of a high number of Rbfox1 target genes. Our results provided insight into the spatial and temporal changes in gene expression driven by RBFOX1-HARs. |
