ERYTHROCYTE DIFFERENTIATION FACTOR, GENE ENCODING SAME, AND METHODS OF USE THEREOF

摘要

The present invention relates to an erythrocyte differentiation factor designated Codanin-1, and to an isolated nucleic acid, which encodes for the differentiation factor. Mutations in the differentiation factor are associated with Congenital Dyserythropoietic Anemias (CDA), a group of inherited red blood cell disorders associated with dysplastic changes in late erythroid precursors. The present invention further relates to uses of the differentiation factor to promote the differentiation of hematopoietic stem cells to erythrocytes, as well as for the treatment and diagnosis of anemia.