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...

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Autores principales:	Karin Brigit Holthaus, Julia Lachner, Bettina Ebner, Erwin Tschachler, Leopold Eckhart
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/a3344031ea4347cd9bbe52a2629b6abd
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spelling	oai:doaj.org-article:a3344031ea4347cd9bbe52a2629b6abd2021-12-02T14:58:14ZGene duplications and gene loss in the epidermal differentiation complex during the evolutionary land-to-water transition of cetaceans10.1038/s41598-021-91863-32045-2322https://doaj.org/article/a3344031ea4347cd9bbe52a2629b6abd2021-06-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-91863-3https://doaj.org/toc/2045-2322Abstract 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.Karin Brigit HolthausJulia LachnerBettina EbnerErwin TschachlerLeopold EckhartNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Karin Brigit Holthaus Julia Lachner Bettina Ebner Erwin Tschachler Leopold Eckhart Gene duplications and gene loss in the epidermal differentiation complex during the evolutionary land-to-water transition of cetaceans
description	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.
format	article
author	Karin Brigit Holthaus Julia Lachner Bettina Ebner Erwin Tschachler Leopold Eckhart
author_facet	Karin Brigit Holthaus Julia Lachner Bettina Ebner Erwin Tschachler Leopold Eckhart
author_sort	Karin Brigit Holthaus
title	Gene duplications and gene loss in the epidermal differentiation complex during the evolutionary land-to-water transition of cetaceans
title_short	Gene duplications and gene loss in the epidermal differentiation complex during the evolutionary land-to-water transition of cetaceans
title_full	Gene duplications and gene loss in the epidermal differentiation complex during the evolutionary land-to-water transition of cetaceans
title_fullStr	Gene duplications and gene loss in the epidermal differentiation complex during the evolutionary land-to-water transition of cetaceans
title_full_unstemmed	Gene duplications and gene loss in the epidermal differentiation complex during the evolutionary land-to-water transition of cetaceans
title_sort	gene duplications and gene loss in the epidermal differentiation complex during the evolutionary land-to-water transition of cetaceans
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/a3344031ea4347cd9bbe52a2629b6abd
work_keys_str_mv	AT karinbrigitholthaus geneduplicationsandgenelossintheepidermaldifferentiationcomplexduringtheevolutionarylandtowatertransitionofcetaceans AT julialachner geneduplicationsandgenelossintheepidermaldifferentiationcomplexduringtheevolutionarylandtowatertransitionofcetaceans AT bettinaebner geneduplicationsandgenelossintheepidermaldifferentiationcomplexduringtheevolutionarylandtowatertransitionofcetaceans AT erwintschachler geneduplicationsandgenelossintheepidermaldifferentiationcomplexduringtheevolutionarylandtowatertransitionofcetaceans AT leopoldeckhart geneduplicationsandgenelossintheepidermaldifferentiationcomplexduringtheevolutionarylandtowatertransitionofcetaceans
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Gene duplications and gene loss in the epidermal differentiation complex during the evolutionary land-to-water transition of cetaceans

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