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Article: Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly

TitleCytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly
Authors
Issue Date1997
PublisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htm
Citation
Human Genetics, 1997, v. 100 n. 2, p. 172-181 How to Cite?
AbstractHoloprosencephaly (HPE) is a genetically heterogeneous disorder that affects the midline development of the forebrain and midface in humans. As a step toward identifying one of the HPE genes, we have set out to refine the HPE3 critical region on human chromosome 7q36 by analyzing 34 cell lines from families with cytogenetic abnormalities involving 7q, 24 of which are associated with HPE. Genomic clones surrounding the DNA marker D7S104, which has previously been shown to be in the HPE3 critical region, have been examined by fluorescent in situ hybridization and microsatellite analysis of our panel of patient cell lines. We report the analysis of a cluster of four translocation breakpoints within a 300-kb region of 7q36 that serves to define the minimal critical region for HPE3 and that has directed the search for candidate genes. The human Sonic Hedgehog (hSHH) gene maps to this region and has been shown to be HPE3 on the basis of mutations within the coding region of the gene. We present evidence that cytogenetic deletions and/or rearrangements of this region of chromosome 7q containing Sonic Hedgehog, and translocations that may suppress Sonic Hedgehog gene expression through a position effect are common mechanisms leading to HPE.
Persistent Identifierhttp://hdl.handle.net/10722/44323
ISSN
2015 Impact Factor: 5.138
2015 SCImago Journal Rankings: 2.931
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorRoessler, Een_HK
dc.contributor.authorWard, DEen_HK
dc.contributor.authorGaudenz, Ken_HK
dc.contributor.authorBelloni, Een_HK
dc.contributor.authorScherer, SWen_HK
dc.contributor.authorDonnai, Den_HK
dc.contributor.authorSiegelBartelt, Jen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorMuenke, Men_HK
dc.date.accessioned2007-09-12T03:51:23Z-
dc.date.available2007-09-12T03:51:23Z-
dc.date.issued1997en_HK
dc.identifier.citationHuman Genetics, 1997, v. 100 n. 2, p. 172-181en_HK
dc.identifier.issn0340-6717en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44323-
dc.description.abstractHoloprosencephaly (HPE) is a genetically heterogeneous disorder that affects the midline development of the forebrain and midface in humans. As a step toward identifying one of the HPE genes, we have set out to refine the HPE3 critical region on human chromosome 7q36 by analyzing 34 cell lines from families with cytogenetic abnormalities involving 7q, 24 of which are associated with HPE. Genomic clones surrounding the DNA marker D7S104, which has previously been shown to be in the HPE3 critical region, have been examined by fluorescent in situ hybridization and microsatellite analysis of our panel of patient cell lines. We report the analysis of a cluster of four translocation breakpoints within a 300-kb region of 7q36 that serves to define the minimal critical region for HPE3 and that has directed the search for candidate genes. The human Sonic Hedgehog (hSHH) gene maps to this region and has been shown to be HPE3 on the basis of mutations within the coding region of the gene. We present evidence that cytogenetic deletions and/or rearrangements of this region of chromosome 7q containing Sonic Hedgehog, and translocations that may suppress Sonic Hedgehog gene expression through a position effect are common mechanisms leading to HPE.en_HK
dc.languageengen_HK
dc.publisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htmen_HK
dc.relation.ispartofHuman Geneticsen_HK
dc.rightsThe original publication is available at www.springerlink.comen_HK
dc.subject.meshBody patterning - geneticsen_HK
dc.subject.meshChromosomes, human, pair 7 - geneticsen_HK
dc.subject.meshGene deletionen_HK
dc.subject.meshHoloprosencephaly - etiology - geneticsen_HK
dc.subject.meshTrans-activatorsen_HK
dc.titleCytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephalyen_HK
dc.typeArticleen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_subscribed_fulltexten_HK
dc.identifier.doi10.1007/s004390050486en_HK
dc.identifier.pmid9254845-
dc.identifier.scopuseid_2-s2.0-0030837885en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0030837885&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume100en_HK
dc.identifier.issue2en_HK
dc.identifier.spage172en_HK
dc.identifier.epage181en_HK
dc.identifier.isiWOS:A1997XL68600006-
dc.publisher.placeGermanyen_HK
dc.identifier.scopusauthoridRoessler, E=7005526597en_HK
dc.identifier.scopusauthoridWard, DE=7403364859en_HK
dc.identifier.scopusauthoridGaudenz, K=6602481296en_HK
dc.identifier.scopusauthoridBelloni, E=7003332359en_HK
dc.identifier.scopusauthoridScherer, SW=55159183300en_HK
dc.identifier.scopusauthoridDonnai, D=7006241070en_HK
dc.identifier.scopusauthoridSiegelBartelt, J=6701611584en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridMuenke, M=7005689389en_HK

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