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Persistence of the ABCC6 genes and the emergence of the bony skeleton in vertebrates

2018-04Journal article Open access
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dc.contributor.authorParreira, Bruna
dc.contributor.authorCardoso, João
dc.contributor.authorCosta, Rita
dc.contributor.authorCouto, Ana Rita
dc.contributor.authorBruges-Armas, Jacome
dc.contributor.authorPower, Deborah M.
dc.date.accessioned2018-12-07T14:52:33Z
dc.date.available2018-12-07T14:52:33Z
dc.date.issued2018-04
dc.description.abstractThe ATP-binding cassette transporter 6 (ABCC6) gene encodes a cellular transmembrane protein transporter (MRP6) that is involved in the regulation of tissue calcification in mammals. Mutations in ABCC6 are associated with human ectopic calcification disorders. To gain insight into its evolution and involvement in tissue calcification we conducted a comparative analysis of the ABCC6 gene and the related gene ABCC1 from invertebrates to vertebrates where a bony endoskeleton first evolved. Taking into consideration the role of ABCC6 in ectopic calcification of human skin we analysed the involvement of both genes in the regeneration of scales, mineralized structures that develop in fish skin. The ABCC6 gene was only found in bony vertebrate genomes and was absent from Elasmobranchs, Agnatha and from invertebrates. In teleost fish the abcc6 gene duplicated but the two genes persisted only in some teleost genomes. Six disease causing amino acid mutations in human MRP6 are a normal feature of abcc6 in fish, suggesting they do not have a deleterious effect on the protein. After scale removal the abcc6 (5 and 10 days) and abcc1 (10 days) gene expression was up-regulated relative to the intact control skin and this coincided with a time of intense scale mineralization.
dc.description.sponsorshipFoundation for Science and Technology (FCT, Portugal) [UID/Multi/04326/2013]; Fundo Regional para a Ciencia (FRC) [M3.1.2/F/023/2011]; FCT [UID/Multi/04326/2013, SFRH/BD/81625/2011]
dc.identifier.doi10.1038/s41598-018-24370-7
dc.identifier.issn2045-2322
dc.identifier.urihttp://hdl.handle.net/10400.1/11120
dc.language.isoeng
dc.peerreviewedyes
dc.publisherNature Publishing Group
dc.subjectGeneralized Arterial Calcification
dc.subjectCause Pseudoxanthoma Elasticum
dc.subjectEuropean Sea Bass
dc.subjectAtp-Binding
dc.subjectMultidrug-Resistance
dc.subjectEctopic Mineralization
dc.subjectParathyroid-Hormone
dc.subjectGenome Duplication
dc.subjectConnective Tissues
dc.subjectTeleost Fish
dc.titlePersistence of the ABCC6 genes and the emergence of the bony skeleton in vertebrates
dc.typejournal article
dspace.entity.typePublication
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/5876/UID%2FMulti%2F04326%2F2013/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/SFRH/SFRH%2FBD%2F81625%2F2011/PT
oaire.citation.startPage6027
oaire.citation.titleScientific Reports
oaire.citation.volume8
oaire.fundingStream5876
oaire.fundingStreamSFRH
person.familyNameCardoso
person.familyNameCosta
person.familyNamePower
person.givenNameJoão
person.givenNameRita
person.givenNameDeborah Mary
person.identifier14332
person.identifier.ciencia-id8B16-F203-2AFC
person.identifier.ciencia-id8219-DFF3-929F
person.identifier.ciencia-id891A-8A44-3CAE
person.identifier.orcid0000-0001-7890-0170
person.identifier.orcid0000-0002-6975-7576
person.identifier.orcid0000-0003-1366-0246
person.identifier.ridM-4151-2013
person.identifier.ridO-9136-2018
person.identifier.scopus-author-id7201822956
person.identifier.scopus-author-id57097731700
person.identifier.scopus-author-id7101806760
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsopenAccess
rcaap.typearticle
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