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Article: Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome

TitleTranslocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome
Authors
Issue Date1997
PublisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/
Citation
Human Molecular Genetics, 1997, v. 6 n. 7, p. 1079-1086 How to Cite?
AbstractSaethre-Chotzen syndrome, a common autosomal dominant craniosynostosis in humans, is characterized by brachydactyly, soft tissue syndactyly and facial dysmorphism including ptosis, facial asymmetry, and prominent ear crura. Previously, we identified a yeast artificial chromosome that encompassed the breakpoint of an apparently balanced t(6;7) (q16.2;p15.3) translocation associated with a mild form of Saethre-Chotzen syndrome. We now describe, at the DNA sequence level, the region on chromosome 7 affected by this translocation event. The rearrangement occurred ~ 5 kb 3' of the human TWIST locus and deleted 518 bp of chromosome 7. The TWIST gene codes for a transcription factor containing a basic helix-loop-helix (b-HLH) motif and has recently been described as a candidate gene for Saethre-Chotzen syndrome, based on the detection of mutations within the coding region. Potential exon sequences flanking the chromosome 7 translocation breakpoint did not hit known genes in database searches. The chromosome rearrangement downstream of TWIST is compatible with the notion that this is a Saethre-Chotzen syndrome gene and implies loss of function of one allele by a positional effect as a possible mechanism of mutation to evoke the syndrome.
Persistent Identifierhttp://hdl.handle.net/10722/44322
ISSN
2015 Impact Factor: 5.985
2015 SCImago Journal Rankings: 4.288
Other Identifiers
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorKrebs, Ien_HK
dc.contributor.authorWeis, Ien_HK
dc.contributor.authorHudler, Men_HK
dc.contributor.authorRommens, JMen_HK
dc.contributor.authorRoth, Hen_HK
dc.contributor.authorScherer, SWen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorFüchtbauer, EMen_HK
dc.contributor.authorGrzeschik, KHen_HK
dc.contributor.authorTsuji, Ken_HK
dc.contributor.authorKunz, Jen_HK
dc.date.accessioned2007-09-12T03:51:22Z-
dc.date.available2007-09-12T03:51:22Z-
dc.date.issued1997en_HK
dc.identifierhttp://hmg.oxfordjournals.org/cgi/reprint/6/7/1079en_HK
dc.identifier.citationHuman Molecular Genetics, 1997, v. 6 n. 7, p. 1079-1086en_HK
dc.identifier.issn0964-6906en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44322-
dc.description.abstractSaethre-Chotzen syndrome, a common autosomal dominant craniosynostosis in humans, is characterized by brachydactyly, soft tissue syndactyly and facial dysmorphism including ptosis, facial asymmetry, and prominent ear crura. Previously, we identified a yeast artificial chromosome that encompassed the breakpoint of an apparently balanced t(6;7) (q16.2;p15.3) translocation associated with a mild form of Saethre-Chotzen syndrome. We now describe, at the DNA sequence level, the region on chromosome 7 affected by this translocation event. The rearrangement occurred ~ 5 kb 3' of the human TWIST locus and deleted 518 bp of chromosome 7. The TWIST gene codes for a transcription factor containing a basic helix-loop-helix (b-HLH) motif and has recently been described as a candidate gene for Saethre-Chotzen syndrome, based on the detection of mutations within the coding region. Potential exon sequences flanking the chromosome 7 translocation breakpoint did not hit known genes in database searches. The chromosome rearrangement downstream of TWIST is compatible with the notion that this is a Saethre-Chotzen syndrome gene and implies loss of function of one allele by a positional effect as a possible mechanism of mutation to evoke the syndrome.en_HK
dc.languageengen_HK
dc.publisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/en_HK
dc.relation.ispartofHuman Molecular Geneticsen_HK
dc.subject.meshAcrocephalosyndactylia - geneticsen_HK
dc.subject.meshNuclear proteinsen_HK
dc.subject.meshTranslocation, geneticen_HK
dc.subject.meshTwist transcription factoren_HK
dc.subject.meshMutationen_HK
dc.titleTranslocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndromeen_HK
dc.typeArticleen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_OA_fulltexten_HK
dc.identifier.doi10.1093/hmg/6.7.1079en_HK
dc.identifier.pmid9215678-
dc.identifier.scopuseid_2-s2.0-8544275253en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-8544275253&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume6en_HK
dc.identifier.issue7en_HK
dc.identifier.spage1079en_HK
dc.identifier.epage1086en_HK
dc.identifier.isiWOS:A1997XH93200015-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridKrebs, I=6603895105en_HK
dc.identifier.scopusauthoridWeis, I=36763538400en_HK
dc.identifier.scopusauthoridHudler, M=22950870200en_HK
dc.identifier.scopusauthoridRommens, JM=7006884140en_HK
dc.identifier.scopusauthoridRoth, H=7202681794en_HK
dc.identifier.scopusauthoridScherer, SW=55159183300en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridFüchtbauer, EM=6603757281en_HK
dc.identifier.scopusauthoridGrzeschik, KH=7004321252en_HK
dc.identifier.scopusauthoridTsuji, K=7402727861en_HK
dc.identifier.scopusauthoridKunz, J=7102122018en_HK

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