Characterisation of erythropoietic mutants identified in a forward genetic screen in mice.

人类骨髓是替代每天正常消耗的大量血细胞的关键器官。由该器官再生的细胞之一是红细胞，其对于将氧气输送到组织至关重要。这项提议使用基因改变的小鼠来识别对正常红细胞产生至关重要的基因。将小鼠暴露于一种化学物质中，诱导其基因组随机突变，然后对具有异常红细胞的幼仔进行鉴定。确定负责的基因突变，然后研究该基因以确定它如何影响红细胞生成。这些研究的结果提供了对各种人类疾病的见解，包括贫血，地中海贫血和镰状细胞病。

The human bone marrow is the pivotal organ in the replacement of the vast numbers of blood cells normally consumed each day. One of the cells regenerated by this organ are the red blood cells which are critical for the transport of oxygen to the tissues. This proposal uses genetically altered mice to identify genes that are critical for the production of normal red blood cells. Mice exposed to a chemical that induces random mutations in their genome are bred and pups with abnormal red blood cells are identified. The responsible genetic mutation is identified and the gene is then studied to determine how it influences red blood cell production. The results of these studies provide insights into a variety of human conditions including anemia, thalassemia and sickle cell disease.