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
2011 Impact Factor: 1.137
2011 SCImago Journal Rankings: 0.104
DOIhttp://dx.doi.org/10.3349/ymj.2008.49.6.965
ReferencesReferences in Scopus
DC Field
Value
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.issn0513-5796
2011 Impact Factor: 1.137
2011 SCImago Journal Rankings: 0.104
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
Author Affiliations
  1. Yonsei University
  2. Kyungpook National University
  3. Korea Research Institute Chemical Technology