Cloning and characterization of a novel Rab-family gene, Rab36, within the region at 22q11.2 that is homozygously deleted in malignant rhabdoid tumors.
Cloning and characterization of a novel Rab-family gene, Rab36, within the region at 22q11.2 that is homozygously deleted in malignant rhabdoid tumors.
复制标题
新型 Rab 家族基因 Rab36 的克隆和表征，该基因位于 22q11.2 区域，在恶性横纹肌瘤中纯合缺失。
DOI：
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发表时间：
1999
期刊：
影响因子：
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通讯作者：
J. Inazawa
中科院分区：
文献类型：
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作者：
T. Mori;Y. Fukuda;H. Kuroda;T. Matsumura;S. Ota;T. Sugimoto;Y. Nakamura;J. Inazawa
恶性横纹肌样肿瘤是一种罕见的儿科软组织肿瘤。染色体22q11.2纯合缺失是MRT反复出现的细胞遗传学特征，提示该基因可能含有一个或多个与肿瘤抑制活性有关的基因。我们从7个MRT细胞系中构建了22q11.2相关部分的缺失图谱，并从该区域的中心分离出了一个新的基因。由于它与Rab家族的基因具有高度的序列同源性，我们将其命名为Rab36。Rab36编码的蛋白定位于高尔基体。对来自三个至少保留该基因一个等位基因的细胞系的Rab36 cDNA进行了测序，结果显示没有无义或移码突变。通过将Rab36基因导入MRT细胞系来诱导其过度表达的实验同样未能证明该基因是一种肿瘤抑制基因，而该基因可能通过功能丧失的机制促进肿瘤的发生。
Malignant rhabdoid tumors (MRTs) are rare, pediatric soft-tissue tumors. Homozygous deletions at chromosome 22q11.2 are a recurrent cytogenetic characteristic of MRTs, an indication that this locus may harbor one or more genes conferring tumor-suppressor activity. We constructed a deletion map of the relevant part of 22q11.2 from a panel of seven MRT cell lines, and isolated a novel gene from the center of the region. As it showed a high degree of sequence homology to genes of the Rab family, we designated it Rab36. The protein encoded by Rab36 was localized at the Golgi body. Sequencing of Rab36 cDNAs from three cell lines that retained at least one allele of this gene revealed no nonsense or frameshift mutations. Experiments to induce over-expression of Rab36 by transfection to an MRT cell line similarly failed to justify designation of this gene as a tumor suppressor that would contribute to tumorigenesis by a loss-of-function mechanism.
影响因子：
10.5
作者：
MORIMOTO, BH;CHUANG, CC;KOSHLAND, DE
通讯作者：
KOSHLAND, DE
与酿酒酵母 SNF5 同源的人类蛋白质与潜在的解旋酶 hbrm 相互作用。
影响因子：
14.9
作者：
Muchardt,C;Sardet,C;Bourachot,B;Onufryk,C;Yaniv,M
通讯作者：
Yaniv,M