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Deep intronic mutations and human disease

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dc.contributor.authorVaz-Drago, Rita
dc.contributor.authorCustódio, Noélia
dc.contributor.authorCarmo-Fonseca, Maria
dc.date.accessioned2021-09-29T09:45:35Z
dc.date.available2021-09-29T09:45:35Z
dc.date.issued2017
dc.description© Springer-Verlag Berlin Heidelberg 2017pt_PT
dc.description.abstractNext-generation sequencing has revolutionized clinical diagnostic testing. Yet, for a substantial proportion of patients, sequence information restricted to exons and exon-intron boundaries fails to identify the genetic cause of the disease. Here we review evidence from mRNA analysis and entire genomic sequencing indicating that pathogenic mutations can occur deep within the introns of over 75 disease-associated genes. Deleterious DNA variants located more than 100 base pairs away from exon-intron junctions most commonly lead to pseudo-exon inclusion due to activation of non-canonical splice sites or changes in splicing regulatory elements. Additionally, deep intronic mutations can disrupt transcription regulatory motifs and non-coding RNA genes. This review aims to highlight the importance of studying variation in deep intronic sequence as a cause of monogenic disorders as well as hereditary cancer syndromes.pt_PT
dc.description.sponsorshipThis work was supported by Fundação para a Ciência e a Tecnologia (Grant PTDC/BEX-BCM/5899/2014 and fellowship SFRH/BD/90231/2012 to R.V.D).pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationHum Genet. 2017 Sep;136(9):1093-1111pt_PT
dc.identifier.doi10.1007/s00439-017-1809-4pt_PT
dc.identifier.eissn1432-1203
dc.identifier.issn0340-6717
dc.identifier.urihttp://hdl.handle.net/10451/49678
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherSpringer Naturept_PT
dc.relationCOTRANSCRIPTIONAL QUALITY CONTROL OF MRNA BIOGENESIS: IMPACT FOR HUMAN GENETIC DISEASES
dc.relation.publisherversionhttps://www.springer.com/journal/439pt_PT
dc.subjectAndrogen Insensitivity Syndromept_PT
dc.subjectDuchenne Muscular Dystrophypt_PT
dc.subjectFabry Diseasept_PT
dc.subjectSplice enhancerpt_PT
dc.subjectSplice sitept_PT
dc.titleDeep intronic mutations and human diseasept_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardNumber144539
oaire.awardNumber36198
oaire.awardNumberSFRH/BD/90231/2012
oaire.awardTitleCOTRANSCRIPTIONAL QUALITY CONTROL OF MRNA BIOGENESIS: IMPACT FOR HUMAN GENETIC DISEASES
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/3599-PPCDT/144539/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/OE/36198/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT//SFRH%2FBD%2F90231%2F2012/PT
oaire.citation.endPage1111pt_PT
oaire.citation.issue9pt_PT
oaire.citation.startPage1093pt_PT
oaire.citation.titleHuman Geneticspt_PT
oaire.citation.volume136pt_PT
oaire.fundingStream3599-PPCDT
oaire.fundingStreamOE
person.familyNameVaz-Drago
person.familyNameFernandes Custódio
person.familyNameCarmo-Fonseca
person.givenNameRita
person.givenNameNoélia Maria
person.givenNameMaria
person.identifier.ciencia-id8615-44B3-7645
person.identifier.ciencia-idB31F-0435-0753
person.identifier.orcid0000-0003-4544-3588
person.identifier.orcid0000-0001-9230-9870
person.identifier.orcid0000-0002-3402-7143
person.identifier.scopus-author-id6508187568
person.identifier.scopus-author-id7007128195
project.funder.identifierhttp://doi.org/10.13039/501100001871
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
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsrestrictedAccesspt_PT
rcaap.typearticlept_PT
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