Non-coding variation in disorders of sex development

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorBAETENS, D.
dc.contributor.authorMENDONCA, B. B.
dc.contributor.authorVERDIN, H.
dc.contributor.authorCOOLS, M.
dc.contributor.authorBAERE, E. De
dc.date.accessioned2017-04-07T15:04:38Z
dc.date.available2017-04-07T15:04:38Z
dc.date.issued2017
dc.description.abstractGenetic studies in Disorders of Sex Development (DSD), representing a wide spectrum of developmental or functional conditions of the gonad, have mainly been oriented towards the coding genome. Application of genomic technologies, such as whole-exome sequencing, result in a molecular genetic diagnosis in similar to 50% of cases with DSD. Many of the genes mutated in DSD encode transcription factors such as SRY, SOX9, NR5A1, and FOXL2, characterized by a strictly regulated spatiotemporal expression. Hence, it can be hypothesized that at least part of the missing genetic variation in DSD can be explained by non-coding mutations in regulatory elements that alter gene expression, either by reduced, mis-or overexpression of their target genes. In addition, structural variations such as translocations, deletions, duplications or inversions can affect the normal chromatin conformation by different mechanisms. Here, we review non-coding defects in human DSD phenotypes and in animal models. The wide variety of non-coding defects found in DSD emphasizes that the regulatory landscape of known and to be discovered DSD genes has to be taken into consideration when investigating the molecular pathogenesis of DSD.
dc.description.indexMEDLINE
dc.description.sponsorshipGhent University [BOF15/GOA/011]
dc.description.sponsorshipGhent University
dc.description.sponsorshipResearch Foundation Flanders (FWO) [G0D6713N]
dc.identifier.citationCLINICAL GENETICS, v.91, n.2, Special Issue, p.163-172, 2017
dc.identifier.doi10.1111/cge.12911
dc.identifier.eissn1399-0004
dc.identifier.issn0009-9163
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/18750
dc.language.isoeng
dc.publisherWILEY-BLACKWELL
dc.relation.ispartofClinical Genetics
dc.rightsrestrictedAccess
dc.rights.holderCopyright WILEY-BLACKWELL
dc.subjectCNVs
dc.subjectDSD
dc.subjectgene regulation
dc.subjectnon-coding variation
dc.subject.otheracampomelic campomelic dysplasia
dc.subject.othergenotype-phenotype correlation
dc.subject.otherregulatory region upstream
dc.subject.othertestis-determining gene
dc.subject.otherandrogen receptor gene
dc.subject.otherpierre-robin-sequence
dc.subject.otherkb deletion upstream
dc.subject.othersry-related gene
dc.subject.othertranslocation breakpoints
dc.subject.otherreciprocal translocation
dc.subject.wosGenetics & Heredity
dc.titleNon-coding variation in disorders of sex development
dc.typearticle
dc.type.categoryreview
dc.type.versionpublishedVersion
dspace.entity.typePublication
hcfmusp.affiliation.countryBélgica
hcfmusp.affiliation.countryisobe
hcfmusp.author.externalBAETENS, D.:Univ Ghent, Ctr Med Genet, De Pintelaan 185, Ghent, Belgium; Ghent Univ Hosp, De Pintelaan 185, Ghent, Belgium
hcfmusp.author.externalVERDIN, H.:Univ Ghent, Ctr Med Genet, De Pintelaan 185, Ghent, Belgium; Ghent Univ Hosp, De Pintelaan 185, Ghent, Belgium
hcfmusp.author.externalCOOLS, M.:Ghent Univ Hosp, Div Pediat Endocrinol, Dept Pediat, Ghent, Belgium; Univ Ghent, Ghent, Belgium
hcfmusp.author.externalBAERE, E. De:Univ Ghent, Ctr Med Genet, De Pintelaan 185, Ghent, Belgium; Ghent Univ Hosp, De Pintelaan 185, Ghent, Belgium
hcfmusp.citation.scopus42
hcfmusp.contributor.author-fmusphcBERENICE BILHARINHO DE MENDONCA
hcfmusp.description.beginpage163
hcfmusp.description.endpage172
hcfmusp.description.issue2
hcfmusp.description.issueSpecial Issue
hcfmusp.description.volume91
hcfmusp.origemWOS
hcfmusp.origem.pubmed27801941
hcfmusp.origem.scopus2-s2.0-85010723159
hcfmusp.origem.wosWOS:000394226900003
hcfmusp.publisher.cityHOBOKEN
hcfmusp.publisher.countryUSA
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