Vocal learning-associated convergent evolution in mammalian proteins and regulatory elements

• 成果类型: Article
• 署名作者: Wirthlin, Morgan E.; Schmid, Tobias A.; Elie, Julie E.; Zhang, Xiaomeng; Kowalczyk, Amanda; Redlich, Ruby; Shvareva, Varvara A.; Rakuljic, Ashley; Ji, Maria B.; Bhat, Ninad S.; Kaplow, Irene M.; Schaffer, Daniel E.; Lawler, Alyssa J.; Wang, Andrew Z.; Phan, BaDoi N.; Annaldasula, Siddharth; Brown, Ashley R.; Lu, Tianyu; Lim, Byung Kook; Azim, Eiman; Clark, Nathan L.; Meyer, Wynn K.; Pond, Sergei L. Kosakovsky; Chikina, Maria; Yartsev, Michael M.; Pfenning, Andreas R.
• 署名单位: Carnegie Mellon University; Carnegie Mellon University; University of California System; University of California Berkeley; University of California System; University of California Berkeley; University of California System; University of California Berkeley; University of California System; University of California Berkeley; Carnegie Mellon University; University of California System; University of California San Diego; Salk Institute; Pennsylvania Commonwealth System of Higher Education (PCSHE); University of Pittsburgh; Lehigh University; Pennsylvania Commonwealth System of Higher Education (PCSHE); Temple University; Pennsylvania Commonwealth System of Higher Education (PCSHE); University of Pittsburgh; Duke University; Allen Institute for Brain Science; Harvard University; Massachusetts Institute of Technology (MIT); Broad Institute
• 刊物名称: SCIENCE
• ISSN/ISSBN: 0036-11443
• DOI: 10.1126/science.abn3263
• 发表日期: 2024-03-29
• 关键词: intellectual disability; neural pathways; motor cortex; autism; variants; genes; deletion; birdsong; microdeletion; ORGANIZATION

摘要

Vocal production learning (vocal learning) is a convergently evolved trait in vertebrates. To identify brain genomic elements associated with mammalian vocal learning, we integrated genomic, anatomical, and neurophysiological data from the Egyptian fruit bat (Rousettus aegyptiacus) with analyses of the genomes of 215 placental mammals. First, we identified a set of proteins evolving more slowly in vocal learners. Then, we discovered a vocal motor cortical region in the Egyptian fruit bat, an emergent vocal learner, and leveraged that knowledge to identify active cis-regulatory elements in the motor cortex of vocal learners. Machine learning methods applied to motor cortex open chromatin revealed 50 enhancers robustly associated with vocal learning whose activity tended to be lower in vocal learners. Our research implicates convergent losses of motor cortex regulatory elements in mammalian vocal learning evolution.