Chromosomal localization and genomic characterization of the mouse melastatin gene (Mlsn1)
Chromosomal localization and genomic characterization of the mouse melastatin gene (Mlsn1)
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DOI：
10.1006/geno.1998.5549
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发表时间：
1998-11-15
期刊：
影响因子：
4.4
通讯作者：
Shyjan, AW
中科院分区：
文献类型：
--
作者：
Hunter, JJ;Shao, J;Shyjan, AW
我们最近描述了一个新的基因，melastatin，其表达与黑色素瘤的侵袭性呈负相关。该基因的染色体定位将其置于小鼠7号染色体和人类基因组的15 q13-q14区域。虽然表达模式和小鼠的染色体定位与小鼠红宝石眼缺陷中的melastatin突变的参与是一致的，但同源分析显示两个位点的遗传分离。全长人cDNA的克隆揭示了一个更大的成绩单比我们以前确定的，对应于1533个氨基酸的蛋白质产物与钙通道的瞬时受体电位（Trp）家族成员的同源性。小鼠melastatin基因包含27个外显子，跨越至少58 kb的基因组DNA。Mlsn 1的启动子区含有四个潜在的小眼结合位点，包括一个M盒，一个转录调控元件，独特的基因与限制性黑色素细胞表达模式。来自该区域的I-kb PvuII片段能够驱动B16黑素瘤细胞中高水平的荧光素酶表达。(C)北京：科学出版社.
We recently described a novel gene, melastatin, whose expression is inversely correlated with melanoma aggressiveness. Chromosomal localization of this gene places it on mouse chromosome 7 and in the 15q13-q14 region of the human genome. Although expression patterns and chromosomal localization in the mouse are consistent with involvement of melastatin mutations in the mouse ruby-eye-a defect, congenic analysis showed genetic segregation of the two loci. Cloning of the full-length human cDNA revealed a much larger transcript than we had previously identified, corresponding to a 1533-amino-acid protein product with homology to members of the transient receptor potential (Trp) family of calcium channels. The mouse melastatin gene contains 27 exons and spans at least 58 kb of genomic DNA. The promoter region of Mlsn1 contains four potential microphthalmia binding sites including an M box, a transcriptional regulatory element unique to genes with a restricted melanocytic expression pattern. A l-kb PvuII fragment from this region was capable of driving high levels of luciferase expression in B16 melanoma cells. (C) 1998 Academic Press.