ALTERATIONS IN THE PITSLRE PROTEIN KINASE IN MELANOMA

描述：（改编自研究者摘要）细胞遗传学 本申请的黑色素瘤研究表明， 1号染色体是黑素瘤最常见的异常之一， 染色体在1 p36带区断裂频繁。关于PITSLRE 基因位点定位于条带区1 p36，似乎参与了 凋亡信号他们实验室的初步研究表明 PITSLRE基因拷贝和异常PITSLRE蛋白的改变 在黑素瘤中的表达。有人假设， 染色体上的PITSLRE基因位点和1 p36与黑色素瘤的关系 发病机制，可能通过破坏凋亡信号通路， 阻止肿瘤细胞通过正常检查点消除 控制为了验证这一假设，他们提出了以下具体的 目的：1）确定PITSLRE基因在黑色素瘤细胞中是否缺失- 分析PITSLRE的表达 在黑色素瘤细胞系和原发性黑色素瘤中; 3）确定 原发性黑色素瘤标本中PITSLRE基因改变的频率;以及 4)为了确定PITSLRE基因是否在 抑制黑素瘤细胞系的生长和/或致瘤性。

DESCRIPTION: (adapted from the investigator's abstract) The cytogenetic studies in melanoma of this application, indicate that alterations of chromosome 1 are one of the most frequent anomalies of melanoma and that chromosome breaks frequently cluster at band region 1p36. The PITSLRE gene locus maps to band region 1p36 and appears to be involved in apoptotic signaling. Initial studies in their laboratory indicate alterations in PITSLRE gene copies and abnormal PITSLRE protein expression in melanoma. It was hypothesized that alterations in the PITSLRE gene locus on chromosome and 1p36 are involved in melanoma pathogenesis, possibly by disrupting apoptotic signaling pathways and preventing the elimination of tumor cells through normal checkpoint control. To test this hypothesis they proposed the following specific aims: 1) to determine if the PITSLRE genes are deleted in melanoma cell- lines with chromosome 1p alterations; 2) to analyze PITSLRE expression in melanoma cell lines and primary melanoma; 3) to determine the frequency of PITSLRE gene alterations in primary melanoma specimens; and 4) to determine whether PITSLRE genes play a function role in suppressing growth and/or tumorigenicity of melanoma cell lines.