STRUCTURE/FUNCTION OF THE HUMAN B-GLOBIN LCR

描述：（改编自研究者摘要）人β-珠蛋白 基因座控制区（LCR）是一个强大的染色体组织， 调节实体，并且是染色质重塑以及 在红细胞发育过程中珠蛋白基因的最佳表达。 博士 Bungert最近通过分析YAC转化的生殖系 转基因动物，控制基因的显性调控结构域 在整个发育过程中所有人类β基因座基因（LCR）的活性 是一个单一功能的遗传实体。 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，并检查这些突变的后果， 在突变YAC被激活后，人β-珠蛋白基因座基因激活 转基因小鼠中。 在第二个具体目标中，他 建议对现役部队的结构/功能进行详细分析， 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.