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.

Detalhes bibliográficos

Principais autores:	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.
Outros Autores:	Howard Hughes Medical Institute
Formato:	artículo biblioteca
Idioma:	English
Publicado em:	American Association for the Advancement of Science 2023-04-28
Acesso em linha:	http://hdl.handle.net/10261/348713
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