Vision-related convergent gene losses reveal SERPINE3's unknown role in the eye.

ABSTRACT: Despite decades of research, knowledge about the genes that are important for development and function of the mammalian eye and are involved in human eye disorders remains incomplete. During mammalian evolution, mammals that naturally exhibit poor vision or regressive eye phenotypes have independently lost many eye-related genes. This provides an opportunity to predict novel eye-related genes based on specific evolutionary gene loss signatures. Building on these observations, we performed a genome-wide screen across 49 mammals for functionally uncharacterized genes that are preferentially lost in species exhibiting lower visual acuity values. The screen uncovered several genes, including SERPINE3, a putative serine proteinase inhibitor. A detailed investigation of 381 additional mam

SUBMITTER: Indrischek H 

PROVIDER: S-EPMC9355568 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature