| Identification of a novel nonsense mutation on the Pax3 gene in ENU-derived white belly spotting mice and its genetic interaction with c-Kit. | |
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MedLine Citation:
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PMID: 20095975 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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In the course of a large-scale screening program of N-ethyl-N-nitrosourea mutagenesis, we isolated two semidominant mutation lines with white belly spotting, named as wps and wbs. Direct sequencing detected a nucleotide G-to-A transversion in exon 2 of the c-Kit gene in wps, which resulted in a missense D60N mutation. Another mutant, wbs, was mapped to chromosome 1 by genome-wide linkage analysis. In 93 meioses, the wbs locus was confined to a 5.2-Mb region between D1Mit380 and D1Mit215, including the Pax3 gene. A nonsense mutation K107X on the Pax3 coding region in wbs mice was identified, causing the loss of Pax3 protein in the homozygous mutant. We further demonstrated that Pax3 exhibited genetic interaction with c-Kit by intercrossing the wps and wbs mice. Further, Pax3 transactivated the c-Kit promoter in different cell lines. However, electrophoretic mobility shift assays showed that Pax3 did not bind to the c-Kit promoter, indicating that Pax3 may interact with c-Kit in an indirect way. This expands our understanding of the intricate regulatory network governing the melanocyte development. |
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Authors:
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Xiao-Li Guo; Hai-Bin Ruan; Yan Li; Xiang Gao; Wei Li |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2010-01-22 |
Journal Detail:
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Title: Pigment cell & melanoma research Volume: 23 ISSN: 1755-148X ISO Abbreviation: Pigment Cell Melanoma Res Publication Date: 2010 Apr |
Date Detail:
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Created Date: 2010-04-16 Completed Date: 2010-08-30 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101318927 Medline TA: Pigment Cell Melanoma Res Country: England |
Other Details:
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Languages: eng Pagination: 252-62 Citation Subset: IM |
Affiliation:
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Key Laboratory of Molecular Developmental Biology, Institute of Genetics & Developmental Biology, Chinese Academy of Sciences, Beijing, China. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Alleles Animals COS Cells Cells, Cultured Cercopithecus aethiops Codon, Nonsense* Ethylnitrosourea Female Humans Male Mice Mice, Inbred C3H Mice, Inbred C57BL Mice, Inbred CBA Mutagenesis / genetics Paired Box Transcription Factors / genetics*, metabolism Phenotype Proto-Oncogene Proteins c-kit / genetics*, metabolism |
| Chemical | |
Reg. No./Substance:
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0/Codon, Nonsense; 0/Paired Box Transcription Factors; 138016-91-8/Pax3 protein, mouse; 759-73-9/Ethylnitrosourea; EC 2.7.10.1/Proto-Oncogene Proteins c-kit |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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