REPETITIVE DNA SEQUENCE INVOLVEMENT IN GENOMIC REARRANGEMENTS

对人类遗传病和肿瘤的分子分析表明有两种 涉及穿插重复的基因组重排机制 序列，转座引起的插入失活，以及 删除。 拟议的实验使用了2101家族的可转座重复序列 以海胆中的序列为模型系统研究海豚的致病机制 换位。这些实验将试图回答三个问题 关于2101重复序列家族；2101重复序列在基因组中是链接的吗 LTR或IVR序列；DO 2101重复序列在结构上与 其他转座元件，包括插入位点复制和 保守的转录信号；可以重复2101个转录本， 据推测，在海胆卵或 早期胚胎？ 其他实验解决了删除单个 作为一种进化机制，两侧有重复的复制序列。品种繁多 由重复序列组成的单拷贝序列将从海洋中分离出来 海胆和人类基因组。这些序列将被用作杂交 对Southern和Northern杂交和DNA测序进行了探讨。 部分工作将与罗伊·布里顿合作进行 加州理工大学的实验室：因此，学生们将接触到最先进的 高产出研究中的技术和仪器 环境。

Molecular analysis of human genetic disease and neoplasia suggests two mechanisms of genomic rearrangement involving interspersed repetitive sequences, insertional inactivation resulting from transposition, and deletion. The proposed experiments use the 2101 family of transposable repetitive sequences in seaurchins as a model system to investigate mechanisms of transposition. The experiments will attempt to answer three questions about the 2101 repeat family; are 2101 repeats linked in the genome like LTR or IVR sequences; do 2101 repeats have structural similarities to other transposable elements, including insertion site duplications and conserved transcriptional signals; and can 2101 repeat transcripts, presumably transposition intermediates, be detected in sea urchin eggs or early embryos? Additional experiments address the significance of deletion of single copy sequences flanked by repeats as an evolutionary mechanism. A variety of single copy sequences flanked by repeats will be isolated form the sea urchin and human genomes. These sequences will be used as hybridization probes on Southern and Northern blot hybridization, and DNA sequencing. Part of the work will be carried out in collaboration with Roy Britten's lab at Caltech: thus, the students will be exposed to state-of-the-art techniques and instrumentation in a highly productive research environment.