Craig Lowe
@genomeCraig
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Joined May 2021
It will be exciting if some of our predictions come true in the next decade; it will be even more fun to read about advances that we never saw coming. It is an exciting time to be studying the genetic basis of human-specific traits!
nature.com
Nature Reviews Genetics - In this Review, the authors discuss our latest understanding of evolutionary genetic changes that are specific to humans, which might endow uniquely human traits and...
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We propose that a Great Ape Cell Atlas (GACA) and an iPSC repository for great apes would be extremely beneficial to the field, but that these would need to be constructed in an ethical manner.
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Not only will the genetic analyses of between-species differences benefit from understanding the diversity within a species, but studies of cellular, tissue, and organismal phenotypes will also benefit from a unified analysis that incorporates intraspecies diversity.
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It will be exciting to see more interactions between the fields of comparative genomics and population genetics in the coming years.
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Lots of exciting results have come from studies using a single reference genome for each species. We are beginning to better understand the genetic diversity of humans and studies are now placing interspecies differences in the context of intraspecies variation.
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While writing the review I enjoyed revisiting articles that had initially gotten me excited about the field, and also discovering new articles I had not previously read. One of my favorite parts was our discussions about the future of the field.
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I learned a ton while working with @brainevodevo @KlkUmut and @GrayCampLab on a review article covering the genetic basis of human-specific traits đź§µ
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I'm thrilled to see the first paper from our lab, the main paper of my graduate work, published today and featured on the cover at Cell @CellCellPress! https://t.co/2r7AVgWPD6
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Get the full story from our new publication in Cell: https://t.co/q4c2FrMScO
@riley_mangan @TheSilverLab @DukeGenomics @DukeGCB @DukeMGM
cell.com
Most comparative genomics studies focus on conserved regions. However, in this study, Mangan et al. identify the fastest-evolved regions across the entire human genome and provide insights into which...
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HAQERs are also enriched for disease-linked variation, suggesting an active role in shaping human-specific susceptibilities to disease.
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With the Reddy Lab and @theSilverLab, we developed in vivo single-cell STARR-seq as a multiplex, single-cell enhancer assay in the developing mouse cerebral cortex to demonstrate that rapid HAQER divergence forged functional elements exclusive to hominins.
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Our work discovered gene regulatory elements that are completely new to humans and were not functional at the time of the human-chimp ancestor. These new regulatory elements are completely unique to humans
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Much of the previous work to find mutations that underlie uniquely human traits focused on genomic regions that were already functional in the human-chimp ancestor, but then humans made modifications to them.
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We propose that this is likely to be a general phenomenon where the regions of the genome producing lots of variants are also more likely to contribute beneficial variants.
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We show that the fastest-evolved regions of the human genome - human ancestor quickly evolved regions or “HAQERS” (pronounced like “hackers”) - not only have locally fast mutation rates, but are also creating lots of adaptive variants 🧵
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Are the most divergent regions in the human genome caused by locally high mutation rates in functionless DNA or the result of positive selection? Turns out, it’s both! @vertgenlab @theSilverLab Reddy Lab (lead author: @riley_mangan) 🧵
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