Identification of a novel nonsense mutation on the pax3 gene in enu-derived white belly spotting mice and its genetic interaction with c-kit
文献类型：期刊论文
| 作者 | Guo, Xiao-Li1,3; Ruan, Hai-Bin2; Li, Yan1,3; Gao, Xiang2; Li, Wei1 |
| 刊名 | Pigment cell & melanoma research
 |
| 出版日期 | 2010-04-01 |
| 卷号 | 23期号:2页码:252-262 |
| 关键词 | Pax3 C-kit N-ethyl-n-nitrosourea mutagenesis Positional cloning Melanocytes Genetic interaction |
| ISSN号 | 1755-1471 |
| DOI | 10.1111/j.1755-148x.2010.00677.x |
| 通讯作者 | Li, wei(wli@genetics.ac.cn) |
| 英文摘要 | P>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. |
| WOS关键词 | STEM-CELL FACTOR ; ENDOTHELIN-B RECEPTOR ; WAARDENBURG-HIRSCHSPRUNG-DISEASE ; GASTROINTESTINAL STROMAL TUMORS ; PAIRED BOX GENE ; SIGNAL-TRANSDUCTION ; PROGENITOR CELLS ; TYROSINE KINASE ; SYNDROME TYPE-2 ; SOX10 GENE |
| WOS研究方向 | Oncology ; Cell Biology ; Dermatology |
| WOS类目 | Oncology ; Cell Biology ; Dermatology |
| 语种 | 英语 |
| WOS记录号 | WOS:000275466400015 |
| 出版者 | WILEY-BLACKWELL PUBLISHING, INC |
| URI标识 | http://www.irgrid.ac.cn/handle/1471x/2413930 |
| 专题 | 中国科学院大学 |
| 通讯作者 | Li, Wei |
| 作者单位 | 1.Chinese Acad Sci, Inst Genet & Dev Biol, Key Lab Mol Dev Biol, Beijing, Peoples R China 2.Nanjing Univ, Model Anim Res Ctr, MOE Key Lab Model Anim Dis Study, Nanjing 210008, Jiangsu, Peoples R China 3.Chinese Acad Sci, Grad Sch, Beijing, Peoples R China |
| 推荐引用方式 GB/T 7714 | Guo, Xiao-Li,Ruan, Hai-Bin,Li, Yan,et al. Identification of a novel nonsense mutation on the pax3 gene in enu-derived white belly spotting mice and its genetic interaction with c-kit[J]. Pigment cell & melanoma research,2010,23(2):252-262. |
| APA | Guo, Xiao-Li,Ruan, Hai-Bin,Li, Yan,Gao, Xiang,&Li, Wei.(2010).Identification of a novel nonsense mutation on the pax3 gene in enu-derived white belly spotting mice and its genetic interaction with c-kit.Pigment cell & melanoma research,23(2),252-262. |
| MLA | Guo, Xiao-Li,et al."Identification of a novel nonsense mutation on the pax3 gene in enu-derived white belly spotting mice and its genetic interaction with c-kit".Pigment cell & melanoma research 23.2(2010):252-262. |
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来源：中国科学院大学
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