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_0OWOEP	Balaenoptera musculus	PGLYRP3	LOF (frameshift, premature stop, ss)	Full	No	10.1038/s41598-021-91863-3
GL_0YLIAV	Phocoena sinus	TCHH	LOF (frameshift, premature stop, ss)	Full	No	10.1038/s41598-021-91863-3
GL_1BIEKR	Tursiops truncatus	LCE1C	Other	Full	No	10.1038/s41598-021-91863-3
GL_2IIVYC	Phocoena sinus	NAA50	LOF (frameshift, premature stop, ss)	Full	No	10.1038/s41598-021-91863-3
GL_4T5TVB	Phocoena sinus	CRNN	Other	Full	No	10.1038/s41598-021-91863-3
GL_5AGHXZ	Tursiops truncatus	HRNR	LOF (frameshift, premature stop, ss)	Full	No	10.1038/s41598-021-91863-3
GL_5BLPK6	Balaenoptera acutorostrata	HRNR	LOF (frameshift, premature stop, ss)	Full	No	10.1038/s41598-021-91863-3
GL_5YDXHN	Balaenoptera acutorostrata	LCE1C	Other	Full	No	10.1038/s41598-021-91863-3
GL_73HDF7	Phocoena sinus	LCE3D	Other	Full	No	10.1038/s41598-021-91863-3
GL_81GZQ0	Phocoena sinus	RPTN	Other	Full	No	10.1038/s41598-021-91863-3