Characterization of a novel missense mutation on murine Pax3 through ENU mutagenesis

Yue Xiao, Lingling Zhang, Kuanjun He, Xiang Gao, Lun Yang, Lin He, Gang Ma, Xizhi Guo

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


N-ethyl- N-nitrosourea (ENU) mutagenesis has led to the elucidation of several regulator genes for melanocyte and skin development. Here we characterized a mutant from ENU mutagenesis with similar phenotype as that of Splotch mutant, including exencephaly, spina bifida and abnormal limbs in homozygotes as well as white belly spotting and occasionally loop-tail in heterozygotes. This novel mutant was named as Sp xG. Through genome-wide linkage analysis in backcross progenies with microsatellite markers, the Sp xG was confined to a region between D1MIT415 and D1MIT7 on chromosome 1, where notable Pax3 gene was located. Direct sequencing revealed that Sp xG carried a nucleotide A894G missense transition in exon 6 of Pax3 gene that resulted in Asn to Asp substitution at amino acid 269 within the highly-conserved homeodomain (HD) DNA recognition module, which was the first point mutation found in this domain in mice. This N269D mutation impaired the transactivation capacity of Pax3 protein, but exerted no effect on Pax3 protein translation. The characterization of the new mutation expanded our understanding the transactivation and DNA-binding structure of Pax3 protein.

Original languageEnglish (US)
Pages (from-to)333-339
Number of pages7
JournalJournal of Genetics and Genomics
Issue number8
StatePublished - Aug 20 2011
Externally publishedYes

Bibliographical note

Funding Information:
This work was supported by the National Basic Research Program of China (No. 2007CB947301 ), and the National Natural Science Foundation of China (No. 30800613 ) and Pujiang Talent (No. 08PJ1407200 ).

Copyright 2012 Elsevier B.V., All rights reserved.


  • ENU
  • Neural tube defect
  • Pax3
  • Transactivation
  • White spotting


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