File Download

There are no files associated with this item.

  Links for fulltext
     (May Require Subscription)
Supplementary

Article: Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1

TitleMutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1
Authors
KeywordsAmino Acid Substitution/genetics
Base Sequence
China/epidemiology
Conserved Sequence
DNA Mutational Analysis
Genes, Dominant
Hand Deformities, Congenital/*classification/epidemiology/*genetics
Hedgehog Proteins
Heterozygote Detection
Humans
Models, Molecular
Molecular Sequence Data
Mutation/*genetics
Pedigree
Phenotype
Polymerase Chain Reaction
Protein Structure, Tertiary/genetics
Proteins/*genetics
Signal Transduction/genetics
Terminology as Topic
*Trans-Activators
Issue Date2001
Citation
Nature Genetics, 2001, v. 28 n. 4, p. 386-388 How to Cite?
AbstractBrachydactyly type A-1 (BDA-1; MIM 112500) is characterized by shortening or missing of the middle phalanges (Fig. 1a). It was first identified by Farabee in 1903 (ref. 2), is the first recorded example of a human anomaly with Mendelian autosomal-dominant inheritance and, as such, is cited in most genetic and biological textbooks. Here we show that mutations in IHH, which encodes Indian hedgehog, cause BDA-1. We have identified three heterozygous missense mutations in the region encoding the amino-terminal signaling domain in all affected members of three large, unrelated families. The three mutant amino acids, which are conserved across all vertebrates and invertebrates studied so far, are predicted to be adjacent on the surface of IHH.
Persistent Identifierhttp://hdl.handle.net/10722/208441
ISSN
2015 Impact Factor: 31.616
2015 SCImago Journal Rankings: 23.762

 

DC FieldValueLanguage
dc.contributor.authorGao, Ben_US
dc.contributor.authorGuo, Jen_US
dc.contributor.authorShe, Cen_US
dc.contributor.authorShu, Aen_US
dc.contributor.authorYang, Men_US
dc.contributor.authorTan, Zen_US
dc.contributor.authorYang, Xen_US
dc.contributor.authorGuo, Sen_US
dc.contributor.authorFeng, Gen_US
dc.contributor.authorHe, Len_US
dc.date.accessioned2015-03-11T03:01:01Z-
dc.date.available2015-03-11T03:01:01Z-
dc.date.issued2001en_US
dc.identifier.citationNature Genetics, 2001, v. 28 n. 4, p. 386-388en_US
dc.identifier.issn1061-4036en_US
dc.identifier.urihttp://hdl.handle.net/10722/208441-
dc.description.abstractBrachydactyly type A-1 (BDA-1; MIM 112500) is characterized by shortening or missing of the middle phalanges (Fig. 1a). It was first identified by Farabee in 1903 (ref. 2), is the first recorded example of a human anomaly with Mendelian autosomal-dominant inheritance and, as such, is cited in most genetic and biological textbooks. Here we show that mutations in IHH, which encodes Indian hedgehog, cause BDA-1. We have identified three heterozygous missense mutations in the region encoding the amino-terminal signaling domain in all affected members of three large, unrelated families. The three mutant amino acids, which are conserved across all vertebrates and invertebrates studied so far, are predicted to be adjacent on the surface of IHH.en_US
dc.languageengen_US
dc.relation.ispartofNature Geneticsen_US
dc.subjectAmino Acid Substitution/geneticsen_US
dc.subjectBase Sequenceen_US
dc.subjectChina/epidemiologyen_US
dc.subjectConserved Sequenceen_US
dc.subjectDNA Mutational Analysisen_US
dc.subjectGenes, Dominanten_US
dc.subjectHand Deformities, Congenital/*classification/epidemiology/*geneticsen_US
dc.subjectHedgehog Proteinsen_US
dc.subjectHeterozygote Detectionen_US
dc.subjectHumansen_US
dc.subjectModels, Molecularen_US
dc.subjectMolecular Sequence Dataen_US
dc.subjectMutation/*geneticsen_US
dc.subjectPedigreeen_US
dc.subjectPhenotypeen_US
dc.subjectPolymerase Chain Reactionen_US
dc.subjectProtein Structure, Tertiary/geneticsen_US
dc.subjectProteins/*geneticsen_US
dc.subjectSignal Transduction/geneticsen_US
dc.subjectTerminology as Topicen_US
dc.subject*Trans-Activatorsen_US
dc.titleMutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1en_US
dc.typeArticleen_US
dc.identifier.emailGao, B: gaobo@hku.hken_US
dc.identifier.authorityGao, B=rp02012en_US
dc.identifier.doi10.1038/ng577en_US
dc.identifier.pmid11455389-
dc.identifier.scopuseid_2-s2.0-0034935075-
dc.identifier.volume28en_US
dc.identifier.issue4en_US
dc.identifier.spage386en_US
dc.identifier.epage388en_US

Export via OAI-PMH Interface in XML Formats


OR


Export to Other Non-XML Formats