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Article: Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development

TitleCharacterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development
Authors
Issue Date1996
PublisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/
Citation
Human Molecular Genetics, 1996, v. 5 n. 5, p. 571-579 How to Cite?
AbstractSplit hand/split foot malformation (SHFM) is a heterogeneous limb developmental disorder, characterized by missing digits and fusion of remaining digits. An autosomal dominant form of this disorder (SHFM1) has been mapped to 7q21.3-q22.1 on the basis of SHFM-associated chromosomal rearrangements. Utilizing a YAC contig across this region, we have defined a critical interval of 1.5 Mb by the analysis of six interstitial deletion patients and mapped the translocation breakpoints of seven ectrodactyly patients within the interval. To delineate the basic molecular defect underlying SHFM, we have searched for candidate genes in a 500 kb region containing five of the translocation breakpoints. Three genes were identified, two genes of the Distal-less (dll) homeobox gene family, DLX5 and DLX6 and a novel gene, which we named DSS1. DSS1 is predicted to encode a highly acidic polypeptide with no significant similarity to any known proteins but 100% amino acid sequence identity with its murine homolog (Dss1). Using RNA in situ hybridization analysis, we detected a tissue-specific expression profile for Dss1 in limb bud, craniofacial primordia and skin. A deficiency in expression of DSS1, DLX5 and/or DLX6 during development may explain the SHFM phenotypes.
Persistent Identifierhttp://hdl.handle.net/10722/44301
ISSN
2015 Impact Factor: 5.985
2015 SCImago Journal Rankings: 4.288
Other Identifiers
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorCrackower, MAen_HK
dc.contributor.authorScherer, SWen_HK
dc.contributor.authorRommens, JMen_HK
dc.contributor.authorHui, CCen_HK
dc.contributor.authorPoorkaj, Pen_HK
dc.contributor.authorSoder, Sen_HK
dc.contributor.authorCobben, JMen_HK
dc.contributor.authorHudgins, Len_HK
dc.contributor.authorEvans, JPen_HK
dc.contributor.authorTsui, LCen_HK
dc.date.accessioned2007-09-12T03:50:58Z-
dc.date.available2007-09-12T03:50:58Z-
dc.date.issued1996en_HK
dc.identifierhttp://hmg.oxfordjournals.org/cgi/reprint/5/5/571en_HK
dc.identifier.citationHuman Molecular Genetics, 1996, v. 5 n. 5, p. 571-579en_HK
dc.identifier.issn0964-6906en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44301-
dc.description.abstractSplit hand/split foot malformation (SHFM) is a heterogeneous limb developmental disorder, characterized by missing digits and fusion of remaining digits. An autosomal dominant form of this disorder (SHFM1) has been mapped to 7q21.3-q22.1 on the basis of SHFM-associated chromosomal rearrangements. Utilizing a YAC contig across this region, we have defined a critical interval of 1.5 Mb by the analysis of six interstitial deletion patients and mapped the translocation breakpoints of seven ectrodactyly patients within the interval. To delineate the basic molecular defect underlying SHFM, we have searched for candidate genes in a 500 kb region containing five of the translocation breakpoints. Three genes were identified, two genes of the Distal-less (dll) homeobox gene family, DLX5 and DLX6 and a novel gene, which we named DSS1. DSS1 is predicted to encode a highly acidic polypeptide with no significant similarity to any known proteins but 100% amino acid sequence identity with its murine homolog (Dss1). Using RNA in situ hybridization analysis, we detected a tissue-specific expression profile for Dss1 in limb bud, craniofacial primordia and skin. A deficiency in expression of DSS1, DLX5 and/or DLX6 during development may explain the SHFM phenotypes.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.meshChromosomes, human, pair 7en_HK
dc.subject.meshFoot deformities, congenital - geneticsen_HK
dc.subject.meshGene expression regulation, developmentalen_HK
dc.subject.meshHand deformities, congenital - geneticsen_HK
dc.subject.meshHomeodomain proteins - geneticsen_HK
dc.titleCharacterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb developmenten_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/5.5.571en_HK
dc.identifier.pmid8733122-
dc.identifier.scopuseid_2-s2.0-9244248158en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-9244248158&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume5en_HK
dc.identifier.issue5en_HK
dc.identifier.spage571en_HK
dc.identifier.epage579en_HK
dc.identifier.isiWOS:A1996UJ74300002-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridCrackower, MA=6701530321en_HK
dc.identifier.scopusauthoridScherer, SW=35374654500en_HK
dc.identifier.scopusauthoridRommens, JM=7006884140en_HK
dc.identifier.scopusauthoridHui, CC=7202876913en_HK
dc.identifier.scopusauthoridPoorkaj, P=35381540700en_HK
dc.identifier.scopusauthoridSoder, S=6602121375en_HK
dc.identifier.scopusauthoridCobben, JM=35268040800en_HK
dc.identifier.scopusauthoridHudgins, L=7005274597en_HK
dc.identifier.scopusauthoridEvans, JP=35407131000en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK

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