Deficient heme and globin synthesis in embryonic stem cells lacking the erythroid-specific δ-aminolevulinate synthase gene

摘要: The erythroid-specific isoform of δ-aminolevulinate synthase (ALAS-E) catalyzes the first step heme biosynthesis in erythroid cells, and ALAS-E gene mutations are known to be responsible for x-linked sideroblastic anemia. To study role development, we prepared mouse embryonic stem (ES) cells carrying a disrupted examined effect lack expression on differentiation. We found that mRNAs transcription factors TER119-positive were increased similarly both wild-type mutant cells. In contrast, content, number benzidine-positive adult globin protein, mRNA β-major significantly decreased These results confirmed using another ES differentiation system vitro suggest expression, hence supply, is critical late stage cell differentiation, which involves hemoglobin synthesis.