Gene Loss

Publication Details

Identifier: JB_ZLOBL2

Curator: Gonçalo Themudo

DOI: 10.1038/s41598-021-91863-3

PMID: 34112911

Title:

Gene duplications and gene loss in the epidermal differentiation complex during the evolutionary land-to-water transition of cetaceans.

Abstract:

Major protein components of the mammalian skin barrier are encoded by genes clustered in the Epidermal Differentiation Complex (EDC). The skin of cetaceans, i.e. whales, porpoises and dolphins, differs histologically from that of terrestrial mammals. However, the genetic regulation of their epidermal barrier is only incompletely known. Here, we investigated the EDC of cetaceans by comparative genomics. We found that important epidermal cornification proteins, such as loricrin and involucrin are conserved and subtypes of small proline-rich proteins (SPRRs) are even expanded in numbers in cetaceans. By contrast, keratinocyte proline rich protein (KPRP), skin-specific protein 32 (XP32) and late-cornified envelope (LCE) genes with the notable exception of LCE7A have been lost in cetaceans. Genes encoding proline rich 9 (PRR9) and late cornified envelope like proline rich 1 (LELP1) have degenerated in subgroups of cetaceans. These data suggest that the evolution of an aquatic lifestyle was accompanied by amplification of SPRR genes and loss of specific other epidermal differentiation genes in the phylogenetic lineage leading to cetaceans.

Last update:

27-01-2025

Associated Glosses (79 results)

GlossID	Species	Symbol	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_87PPK1	Tursiops truncatus	LCE5A	Other	Full	No	10.1038/s41598-021-91863-3
GL_9SLBAN	Balaenoptera acutorostrata	LCE1E	Other	Full	No	10.1038/s41598-021-91863-3
GL_AKLMAS	Tursiops truncatus	KPRP	Other	Full	No	10.1038/s41598-021-91863-3
GL_AM0YQA	Phocoena sinus	LCE1A	Other	Full	No	10.1038/s41598-021-91863-3
GL_B5VMTW	Phocoena sinus	SMCP	LOF (frameshift, premature stop, ss)	Full	No	10.1038/s41598-021-91863-3
GL_BE2Y9B	Balaenoptera acutorostrata	LCE6A	LOF (frameshift, premature stop, ss)	Full	No	10.1038/s41598-021-91863-3
GL_BFOE2P	Balaenoptera acutorostrata	LCE1F	Other	Full	No	10.1038/s41598-021-91863-3
GL_CDWFWQ	Phocoena sinus	LCE1F	Other	Full	No	10.1038/s41598-021-91863-3
GL_CXY00L	Tursiops truncatus	LCE1F	Other	Full	No	10.1038/s41598-021-91863-3
GL_DJCODB	Balaenoptera acutorostrata	LCE3E	Other	Full	No	10.1038/s41598-021-91863-3