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_OJBTND	Tursiops truncatus	TCHH	LOF (frameshift, premature stop, ss)	Full	No	10.1038/s41598-021-91863-3
GL_OL8HRH	Tursiops truncatus	LCE3B	Other	Full	No	10.1038/s41598-021-91863-3
GL_P47TEZ	Phocoena sinus	LCE3A	Other	Full	No	10.1038/s41598-021-91863-3
GL_PLPDPX	Phocoena sinus	LCE6A	LOF (frameshift, premature stop, ss)	Full	No	10.1038/s41598-021-91863-3
GL_PQE7RO	Tursiops truncatus	NAA50	LOF (frameshift, premature stop, ss)	Full	No	10.1038/s41598-021-91863-3
GL_QAYCRY	Balaenoptera acutorostrata	RPTN	Other	Full	No	10.1038/s41598-021-91863-3
GL_RJQ3RB	Balaenoptera acutorostrata	LCE3C	Other	Full	No	10.1038/s41598-021-91863-3
GL_RKR9GN	Tursiops truncatus	FLG2	LOF (frameshift, premature stop, ss)	Full	No	10.1038/s41598-021-91863-3
GL_RL9LJB	Phocoena sinus	LCE5A	Other	Full	No	10.1038/s41598-021-91863-3
GL_RPJG2D	Balaenoptera musculus	PRR9	LOF (frameshift, premature stop, ss)	Full	No	10.1038/s41598-021-91863-3