223 123

Cited 0 times in

Point mutation of Hoxd12 in mice.

Authors
 Kyoung-Won Cho  ;  Jae-Young Kim  ;  Jae-Woo Cho  ;  Kyu-Hyuk Cho  ;  Chang-Woo Song  ;  Han-Sung Jung 
Citation
 YONSEI MEDICAL JOURNAL, Vol.49(6) : 965-972, 2008 
Journal Title
 YONSEI MEDICAL JOURNAL 
ISSN
 0513-5796 
Issue Date
2008
MeSH
Animals ; Base Sequence ; DNA/genetics ; DNA Primers/genetics ; Ethylnitrosourea/toxicity ; Genes, Homeobox ; Homeodomain Proteins/genetics* ; Limb Deformities, Congenital/genetics ; Male ; Mice ; Mice, Inbred BALB C ; Mutagens/toxicity ; Point Mutation* ; Transcription Factors/genetics*
Keywords
Animals ; Base Sequence ; DNA/genetics ; DNA Primers/genetics ; Ethylnitrosourea/toxicity ; Genes, Homeobox ; Homeodomain Proteins/genetics* ; Limb Deformities, Congenital/genetics ; Male ; Mice ; Mice, Inbred BALB C ; Mutagens/toxicity ; Point Mutation* ; Transcription Factors/genetics*
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 a 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 in 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
Files in This Item:
T200803136.pdf Download
DOI
10.3349/ymj.2008.49.6.965
Appears in Collections:
2. College of Dentistry (치과대학) > Dept. of Oral Biology (구강생물학교실) > 1. Journal Papers
Yonsei Authors
Jung, Han Sung(정한성) ORCID logo https://orcid.org/0000-0003-2795-531X
Cho, Kyoung Won(조경원)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/108070
사서에게 알리기
  feedback

qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

Browse