Gene Loss

Publication Details

Identifier: JB_WOHSPQ

Curator: M. Lopes-Marques

DOI: 10.1038/s41598-024-60099-2

PMID: 38653760

Title:

Comparative genomics of sirenians reveals evolution of filaggrin and caspase-14 upon adaptation of the epidermis to aquatic life.

Abstract:

The mammalian epidermis has evolved to protect the body in a dry environment. Genes of the epidermal differentiation complex (EDC), such as FLG (filaggrin), are implicated in the barrier function of the epidermis. Here, we investigated the molecular evolution of the EDC in sirenians (manatees and dugong), which have adapted to fully aquatic life, in comparison to the EDC of terrestrial mammals and aquatic mammals of the clade Cetacea (whales and dolphins). We show that the main subtypes of EDC genes are conserved or even duplicated, like late cornified envelope (LCE) genes of the dugong, whereas specific EDC genes have undergone inactivating mutations in sirenians. FLG contains premature stop codons in the dugong, and the ortholog of human CASP14 (caspase-14), which proteolytically processes filaggrin, is pseudogenized in the same species. As FLG and CASP14 have also been lost in whales, these mutations represent convergent evolution of skin barrier genes in different lineages of aquatic mammals. In contrast to the dugong, the manatee has retained functional FLG and CASP14 genes. FLG2 (filaggrin 2) is truncated in both species of sirenians investigated. We conclude that the land-to-water transition of sirenians was associated with modifications of the epidermal barrier at the molecular level.

Last update:

19-06-2024

Associated Glosses (10 results)

GlossID	Species	Symbol	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_DTRKDR	Trichechus manatus	FLG	LOF (frameshift, premature stop, ss)	Undetermined	No	10.1038/s41598-024-60099-2
GL_EUJO09	Dugong dugon	TCHHL1	LOF (frameshift, premature stop, ss)	Undetermined	No	10.1038/s41598-024-60099-2
GL_FNGZBT	Dugong dugon	FLG	LOF (frameshift, premature stop, ss)	Full	No	10.1038/s41598-024-60099-2
GL_FO6RWH	Elephas maximus indicus	PGLYRP4	LOF (frameshift, premature stop, ss)	Full	No	10.1038/s41598-024-60099-2
GL_JDKF8Z	Trichechus manatus	PGLYRP4	LOF (frameshift, premature stop, ss)	Full	Sirenia	10.1038/s41598-024-60099-2
GL_MMINO5	Dugong dugon	FLG2	LOF (frameshift, premature stop, ss)	Undetermined	No	10.1038/s41598-024-60099-2
GL_RPR8VZ	Trichechus manatus	TCHHL1	LOF (frameshift, premature stop, ss)	Undetermined	No	10.1038/s41598-024-60099-2
GL_SUVGTY	Trichechus manatus	FLG2	LOF (frameshift, premature stop, ss)	Undetermined	No	10.1038/s41598-024-60099-2
GL_W5HRE8	Dugong dugon	PGLYRP4	LOF (frameshift, premature stop, ss)	Full	Sirenia	10.1038/s41598-024-60099-2
GL_WEK3BR	Dugong dugon	CASP14	LOF (frameshift, premature stop, ss)	Full	No	10.1038/s41598-024-60099-2