ALTERATIONS IN THE PITSLRE PROTEIN KINASE IN MELANOMA

描述：(改编自研究人员的摘要)细胞遗传学 对黑色素瘤的研究表明，这种应用的改变 1号染色体是黑色素瘤最常见的异常之一， 染色体断裂频繁地聚集在带区1p36。PITSLRE 基因座定位于条带区域1p36，似乎参与了 细胞凋亡信号。他们实验室的初步研究表明 PITSLRE基因拷贝改变与PITSLRE蛋白异常 在黑色素瘤中的表达。据推测，地球表面上的变化 染色体上的PITSLRE基因和1p36与黑色素瘤相关 发病机制，可能是通过扰乱凋亡信号通路和 通过正常检查点防止肿瘤细胞被清除 控制力。为了验证这一假设，他们提出了以下具体假设 目的：1)确定PITSLRE基因在黑色素瘤细胞中是否缺失- 染色体1p突变株系；2)分析PITSLRE表达 在黑色素瘤细胞系和原发黑色素瘤中；3)确定 原发黑色素瘤标本中PITSLRE基因突变的频率；以及 4)确定PITSLRE基因是否在 抑制黑色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.