STRUCTURE/FUNCTION OF THE HUMAN B-GLOBIN LCR

描述：(改编自研究人员摘要)人类β-珠蛋白 基因座控制区(LCR)是一种功能强大的染色体组织和 监管实体，是染色质重塑和 在红系发育过程中珠蛋白基因的最佳表达。Dr。 Bungert最近通过对YAC转化的胚系的分析表明 转基因动物的主要调控区域控制着 所有人类β基因(LCR)在发育过程中的活性 是一个单一的功能性遗传实体。在第一个具体目标中，他 建议分析个体过敏性位点突变 人β-珠蛋白LCR，并检测这些突变对 突变YAC后人β-珠蛋白基因的激活 被纳入生殖系转基因小鼠。在第二个具体目标中，他 建议启动对主动体的详细结构/功能分析 LCR。

DESCRIPTION: (Adapted from investigator's abstract) The human beta-globin locus control region (LCR) is a powerful chromosome organizational and regulatory entity and is required for both chromatin remodeling as well as for optimal expression of globin genes during erythroid development. Dr. Bungert has recently shown through analysis of germ line YAC-transformed transgenic animals that the dominant regulatory domain controlling the activity of all of the human beta-locus genes (LCR) throughout development is a single functional genetic entity. In the first specific aim, he proposes to analyze individual hypersensitive site mutations within the human beta-globin LCR and to examine the consequences of these mutations on human beta-globin locus gene activation after the mutant YACs are incorporated into germ line transgenic mice. In the second specific aim, he proposes to initiate a detailed structure/function analysis of the active LCR.