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Article: Point mutation of Hoxd12 in mice

TitlePoint mutation of Hoxd12 in mice
Authors
Issue Date2008
PublisherYonsei University, College of Medicine. The Journal's web site is located at http://www.eymj.org
Citation
Yonsei Medical Journal, 2008, v. 49 n. 6, p. 965-972 How to Cite?
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.
Persistent Identifierhttp://hdl.handle.net/10722/169556
ISSN
2013 Impact Factor: 1.263
2013 SCImago Journal Rankings: 0.495
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorCho, KWen_US
dc.contributor.authorKim, JYen_US
dc.contributor.authorCho, JWen_US
dc.contributor.authorCho, KHen_US
dc.contributor.authorSong, CWen_US
dc.contributor.authorJung, HSen_US
dc.date.accessioned2012-10-25T04:52:50Z-
dc.date.available2012-10-25T04:52:50Z-
dc.date.issued2008en_US
dc.identifier.citationYonsei Medical Journal, 2008, v. 49 n. 6, p. 965-972en_US
dc.identifier.issn0513-5796en_US
dc.identifier.urihttp://hdl.handle.net/10722/169556-
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.en_US
dc.languageengen_US
dc.publisherYonsei University, College of Medicine. The Journal's web site is located at http://www.eymj.orgen_US
dc.relation.ispartofYonsei Medical Journalen_US
dc.subject.meshAnimalsen_US
dc.subject.meshBase Sequenceen_US
dc.subject.meshDna - Geneticsen_US
dc.subject.meshDna Primers - Geneticsen_US
dc.subject.meshEthylnitrosourea - Toxicityen_US
dc.subject.meshGenes, Homeoboxen_US
dc.subject.meshHomeodomain Proteins - Geneticsen_US
dc.subject.meshLimb Deformities, Congenital - Geneticsen_US
dc.subject.meshMaleen_US
dc.subject.meshMiceen_US
dc.subject.meshMice, Inbred Balb Cen_US
dc.subject.meshMutagens - Toxicityen_US
dc.subject.meshPoint Mutationen_US
dc.subject.meshTranscription Factors - Geneticsen_US
dc.titlePoint mutation of Hoxd12 in miceen_US
dc.typeArticleen_US
dc.identifier.emailJung, HS: hsjung@yuhs.acen_US
dc.identifier.authorityJung, HS=rp01683en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.3349/ymj.2008.49.6.965en_US
dc.identifier.pmid19108020en_US
dc.identifier.scopuseid_2-s2.0-58149473102en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-58149473102&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume49en_US
dc.identifier.issue6en_US
dc.identifier.spage965en_US
dc.identifier.epage972en_US
dc.identifier.isiWOS:000262165400014-
dc.publisher.placeRepublic of Koreaen_US
dc.identifier.scopusauthoridCho, KW=7403956665en_US
dc.identifier.scopusauthoridKim, JY=7601361822en_US
dc.identifier.scopusauthoridCho, JW=7403536065en_US
dc.identifier.scopusauthoridCho, KH=8450197800en_US
dc.identifier.scopusauthoridSong, CW=7403253231en_US
dc.identifier.scopusauthoridJung, HS=7403030195en_US

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