Alpha Actinins In Skeletal & Cytoskeletal Organization &

骨骼中的α肌动蛋白

• 批准号: 6546795
• 负责人: NEAL DAVID EPSTEIN
• 金额: --
• 依托单位: NATIONAL HEART, LUNG, AND BLOOD INSTITUTE
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/6546795
• 关键词: actins; alleles; alpha actinin; cytoskeleton; developmental genetics; gene induction /repression; genetic regulation; genetic screening; hematopoiesis; human genetic material tag; human tissue; microfilaments; molecular assembly /self assembly; protein isoforms; protein localization; actins; alleles; alpha actinin; cytoskeleton; developmental genetics; gene induction /repression; genetic regulation; genetic screening; hematopoiesis; human genetic material tag; human tissue; microfilaments; molecular assembly /self assembly; protein isoforms; protein localization

The actinins are actin bundling proteins important in cytoskeletal organization. There are 4 known isoforms in the human, some of which are important in muscle and others in non-muscle cells. We have cloned 3 of these and identified naturally occurring alleles in the population that we believe have functional effects in a variety of cell types. We have also found interesting elements in the genomic region flanking one of these genes that has prompted us to study its coordinate regulation with a gene important to blood cell development. We are presently investigating both tissue distribution and regulation of the different actinin, prior to beginning a clinical screening to study the affect of the alleles we have identified.

肌动蛋白是肌动蛋白捆绑在细胞骨架组织中重要的蛋白质。人类中有4种已知的同工型，其中一些在肌肉中很重要，而另一些在非肌肉细胞中很重要。我们已经克隆了其中的3个，并确定了我们认为在各种细胞类型中具有功能效应的人群中自然存在的等位基因。我们还发现了这些基因两侧的基因组区域中有趣的元素，促使我们研究了其对血细胞发育重要的基因的坐标调节。目前，我们正在研究不同阳阳化激素的组织分布和调节，然后开始进行临床筛查以研究我们已经鉴定出的等位基因的影响。