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Article: Point mutation of Hoxd12 in mice
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TitlePoint mutation of Hoxd12 in mice
 
AuthorsCho, KW1
Kim, JY2
Cho, JW3
Cho, KH3
Song, CW3
Jung, HS1
 
Issue Date2008
 
PublisherYonsei University, College of Medicine. The Journal's web site is located at http://www.eymj.org
 
CitationYonsei Medical Journal, 2008, v. 49 n. 6, p. 965-972 [How to Cite?]
DOI: http://dx.doi.org/10.3349/ymj.2008.49.6.965
 
AbstractPurpose: Genes of the HoxD cluster play a major role in vertebrate limb development, and changes that modify the Hoxd12 locus affect other genes also, suggesting that HoxD function is coordinated by a control mechanism involving multiple genes during limb morphogenesis. In this study, mutant phenotypes were produced by treatment of mice with chemical mutagen, N-ethyl-N-nitrosourea (ENU). We analyzed mutant mice exhibiting the specific microdactyly phenotype and examined the genes affected. Materials and Methods: We focused on phenotype characteristics including size, bone formation, and digit morphology of ENU-induced microdactyly mice. The expressions of several molecules were analyzed by genome-wide screening and quantitative real-time PCR to define the affected genes. Results: We report on limb phenotypes of an ENU-induced A-to-C mutation in the Hoxd12 gene, resulting in alanine-to-serine conversion. Microdactyly mice exhibited growth defects in the zeugopod and autopod, shortening of digits, a missing tip of digit I, limb growth affected, and dramatic increases in the expressions of Fgf4 and Lmx1b. However, the expression level of Shh was not changed Hoxd12 point mutated mice. Conclusion: These results suggest that point mutation rather than the entire deletion of Hoxd12, such as in knockout and transgenic mice, causes the abnormal limb phenotype in microdactyly mice. The precise nature of the spectrum of differences requires further investigation.
 
ISSN0513-5796
2013 Impact Factor: 1.263
2013 SCImago Journal Rankings: 0.495
 
DOIhttp://dx.doi.org/10.3349/ymj.2008.49.6.965
 
ISI Accession Number IDWOS:000262165400014
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorCho, KW
 
dc.contributor.authorKim, JY
 
dc.contributor.authorCho, JW
 
dc.contributor.authorCho, KH
 
dc.contributor.authorSong, CW
 
dc.contributor.authorJung, HS
 
dc.date.accessioned2012-10-25T04:52:50Z
 
dc.date.available2012-10-25T04:52:50Z
 
dc.date.issued2008
 
dc.description.abstractPurpose: Genes of the HoxD cluster play a major role in vertebrate limb development, and changes that modify the Hoxd12 locus affect other genes also, suggesting that HoxD function is coordinated by a control mechanism involving multiple genes during limb morphogenesis. In this study, mutant phenotypes were produced by treatment of mice with chemical mutagen, N-ethyl-N-nitrosourea (ENU). We analyzed mutant mice exhibiting the specific microdactyly phenotype and examined the genes affected. Materials and Methods: We focused on phenotype characteristics including size, bone formation, and digit morphology of ENU-induced microdactyly mice. The expressions of several molecules were analyzed by genome-wide screening and quantitative real-time PCR to define the affected genes. Results: We report on limb phenotypes of an ENU-induced A-to-C mutation in the Hoxd12 gene, resulting in alanine-to-serine conversion. Microdactyly mice exhibited growth defects in the zeugopod and autopod, shortening of digits, a missing tip of digit I, limb growth affected, and dramatic increases in the expressions of Fgf4 and Lmx1b. However, the expression level of Shh was not changed Hoxd12 point mutated mice. Conclusion: These results suggest that point mutation rather than the entire deletion of Hoxd12, such as in knockout and transgenic mice, causes the abnormal limb phenotype in microdactyly mice. The precise nature of the spectrum of differences requires further investigation.
 
dc.description.naturelink_to_subscribed_fulltext
 
dc.identifier.citationYonsei Medical Journal, 2008, v. 49 n. 6, p. 965-972 [How to Cite?]
DOI: http://dx.doi.org/10.3349/ymj.2008.49.6.965
 
dc.identifier.doihttp://dx.doi.org/10.3349/ymj.2008.49.6.965
 
dc.identifier.epage972
 
dc.identifier.isiWOS:000262165400014
 
dc.identifier.issn0513-5796
2013 Impact Factor: 1.263
2013 SCImago Journal Rankings: 0.495
 
dc.identifier.issue6
 
dc.identifier.pmid19108020
 
dc.identifier.scopuseid_2-s2.0-58149473102
 
dc.identifier.spage965
 
dc.identifier.urihttp://hdl.handle.net/10722/169556
 
dc.identifier.volume49
 
dc.languageeng
 
dc.publisherYonsei University, College of Medicine. The Journal's web site is located at http://www.eymj.org
 
dc.publisher.placeRepublic of Korea
 
dc.relation.ispartofYonsei Medical Journal
 
dc.relation.referencesReferences in Scopus
 
dc.subject.meshAnimals
 
dc.subject.meshBase Sequence
 
dc.subject.meshDna - Genetics
 
dc.subject.meshDna Primers - Genetics
 
dc.subject.meshEthylnitrosourea - Toxicity
 
dc.subject.meshGenes, Homeobox
 
dc.subject.meshHomeodomain Proteins - Genetics
 
dc.subject.meshLimb Deformities, Congenital - Genetics
 
dc.subject.meshMale
 
dc.subject.meshMice
 
dc.subject.meshMice, Inbred Balb C
 
dc.subject.meshMutagens - Toxicity
 
dc.subject.meshPoint Mutation
 
dc.subject.meshTranscription Factors - Genetics
 
dc.titlePoint mutation of Hoxd12 in mice
 
dc.typeArticle
 
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<contributor.author>Cho, JW</contributor.author>
<contributor.author>Cho, KH</contributor.author>
<contributor.author>Song, CW</contributor.author>
<contributor.author>Jung, HS</contributor.author>
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<description.abstract>Purpose: Genes of the HoxD cluster play a major role in vertebrate limb development, and changes that modify the Hoxd12 locus affect other genes also, suggesting that HoxD function is coordinated by a control mechanism involving multiple genes during limb morphogenesis. In this study, mutant phenotypes were produced by treatment of mice with chemical mutagen, N-ethyl-N-nitrosourea (ENU). We analyzed mutant mice exhibiting the specific microdactyly phenotype and examined the genes affected. Materials and Methods: We focused on phenotype characteristics including size, bone formation, and digit morphology of ENU-induced microdactyly mice. The expressions of several molecules were analyzed by genome-wide screening and quantitative real-time PCR to define the affected genes. Results: We report on limb phenotypes of an ENU-induced A-to-C mutation in the Hoxd12 gene, resulting in alanine-to-serine conversion. Microdactyly mice exhibited growth defects in the zeugopod and autopod, shortening of digits, a missing tip of digit I, limb growth affected, and dramatic increases in the expressions of Fgf4 and Lmx1b. However, the expression level of Shh was not changed Hoxd12 point mutated mice. Conclusion: These results suggest that point mutation rather than the entire deletion of Hoxd12, such as in knockout and transgenic mice, causes the abnormal limb phenotype in microdactyly mice. The precise nature of the spectrum of differences requires further investigation.</description.abstract>
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Author Affiliations
  1. Yonsei University
  2. Kyungpook National University
  3. Korea Research Institute Chemical Technology