The functional and evolutionary impacts of human-specific deletions in conserved elements

[INTRODUCTION] Deciphering the molecular and genetic changes that differentiate humans from our closest primate relatives is critical for understanding our origins. Although earlier studies have prioritized how newly gained genetic sequences or variations have contributed to evolutionary innovation, the role of sequence loss has been less appreciated. Alterations in evolutionary conserved regions that are enriched for biological function could be particularly more likely to have phenotypic effects. We thus sought to identify and characterize sequences that have been conserved across evolution, but are then surprisingly lost in all humans. These human-specific deletions in conserved regions (hCONDELs) may play an important role in uniquely human traits.

Bibliographic Details

Main Authors:	Xue, James R., Mackay-Smith, Ava, Mouri, Kousuke, Fernandez Garcia, Meilin, Dong, Michael X., Akers, Jared F., Noble, Mark, Li, Xue, Zoonomia Consortium, Juan, David, Marqués-Bonet, Tomàs, Muntané, Gerard, Navarro, Arcadi, Serres-Armero, Aitor, Valenzuela, Alejandro, Lindblad-Toh, Kerstin, Karlsson, Elinor K., Noonan, James P., Capellini, Terence D., Brennand, Kristen J., Tewhey, Ryan, Sabeti, Pardis C., Reilly, Steven K.
Other Authors:	Howard Hughes Medical Institute
Format:	artículo biblioteca
Language:	English
Published:	American Association for the Advancement of Science 2023-04-28
Online Access:	http://hdl.handle.net/10261/348713
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