FMRP FUNCTION AND CHARACTERIZATION

FMRP是人类FMR1基因座的蛋白质产物。这一点上的突变 阻止活性蛋白表达的基因座导致精神脆性X 智力迟缓。这种蛋白质与RNA结合，并被发现与 多聚核糖体。FMRP是交替剪接和密切相关的同源物 都编码在常染色体上。对……作用的理解 FMRP需要结构信息，以及有关 这个蛋白质家族的表达、定位和半衰期。 该项目将检查FMRP和其他 家庭成员。 具体目标是： 1)生产和表征生物化学有用的量 重组FMRP家族成员、剪接变异体和突变体； 2)确定FMRP和FMRP-RNA复合体的结构； 3)产生一组同工酶特异性抗体，以便 明确确定表达的FMRP的身份和定位 异构体； 4)确定细胞内FMRP的机制和比率 退化。

FMRP is the protein product of the human FMR1 locus. Mutations at this locus which prevent expression of active protein cause Fragile X Mental Retardation. This protein binds to RNA and is found associated with polyribosomes. FMRP is alternately splices and closely related homologs are coded on autosomal chromosomes. An understanding of the role of FMRP requires structural information, as well as information about the expression, localization, and half-life of this family of proteins. This project will examine the structure and stability of FMRP and other family members. Specific aims are: 1) to produce and characterize biochemically useful amount of recombinant FMRP family members, splice variant, and mutants; 2) to determine the structure of FMRP and an FMRP-RNA complex; 3) to produce a panel of isozyme specific antibodies in order to unambiguously determine the identity and localization of expressed FMRP isoforms; 4) to determine the mechanism and rate of intracellular FMRP degradation.