Gene Loss

Publication Details

Identifier: JB_KN0JHQ

Curator: Raul Valente

Title:

Phylogenetic profiling and gene expression studies implicate a primary role of PSORS1C2 in terminal differentiation of keratinocytes.

Abstract:

PSORS1C2 is a gene located between coiled-coil alpha-helical rod protein 1 (CCHCR1) and corneodesmosin (CDSN) within the psoriasis susceptibility locus 1 (PSORS1). Here, we performed a comparative genomics analysis of the as-yet incompletely characterized PSORS1C2 gene and determined its expression pattern in human tissues. In contrast to CCHCR1, which is common to all vertebrates investigated, PSORS1C2 and CDSN are present exclusively in mammals, indicating that the latter genes have originated after the evolutionary divergence of mammals and reptiles. CDSN is conserved in aquatic mammals, whereas PSORS1C2 orthologs contain gene-inactivating frame shift mutations in whales and dolphins, in which the epidermal differentiation programme has degenerated. Reverse-transcription PCR screening demonstrated that, in human tissues, PSORS1C2 is expressed principally in the epidermis and weakly in the thymus. PSORS1C2 mRNA was strongly upregulated during terminal differentiation of human keratinocytes in vitro. Immunohistochemistry revealed exclusive expression of PSORS1C2 in the granular layer of the epidermis and in cornifying epithelial cells of Hassall's corpuscles of the thymus. In summary, our results identify PSORS1C2 as a keratinocyte cornification-associated protein that has originated in evolutionarily basal mammals and has undergone gene inactivation in association with the loss of the skin barrier function in aquatic mammals.

Last update:

26-01-2025

Associated Glosses (11 results)

GlossID	Species	Symbol	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_2VVYNQ	Lipotes vexillifer	PSORS1C2	LOF (frameshift, premature stop, ss)	Full	Cetacea	10.1111/exd.13272
GL_ANSWV1	Cebus capucinus	PSORS1C1	LOF (frameshift, premature stop, ss)	Full	No	10.1111/exd.13272
GL_DIIZDM	Tursiops truncatus	PSORS1C2	LOF (frameshift, premature stop, ss)	Full	Cetacea	10.1111/exd.13272
GL_EKXC13	Callithrix jacchus	PSORS1C1	LOF (frameshift, premature stop, ss)	Full	No	10.1111/exd.13272
GL_H6COUY	Chlorocebus sabaeus	PSORS1C1	LOF (frameshift, premature stop, ss)	Full	No	10.1111/exd.13272
GL_HPADGD	Saimiri boliviensis boliviensis	PSORS1C1	LOF (frameshift, premature stop, ss)	Full	No	10.1111/exd.13272
GL_HUKTQ3	Orcinus orca	PSORS1C2	LOF (frameshift, premature stop, ss)	Full	Cetacea	10.1111/exd.13272
GL_TODUKG	Balaenoptera acutorostrata	PSORS1C2	LOF (frameshift, premature stop, ss)	Full	Cetacea	10.1111/exd.13272
GL_TWJVDZ	Gorilla gorilla gorilla	PSORS1C1	LOF (frameshift, premature stop, ss)	Full	No	10.1111/exd.13272
GL_UFEG18	Macaca mulatta	PSORS1C1	LOF (frameshift, premature stop, ss)	Full	No	10.1111/exd.13272