A genome-based approach for the study of erythroid biology and disease

The human genome contains all elements of the erythroid transcriptome with the exception of those genes encoded in mitochondrial DNA. The concept of a “genome-based” approach for the study of erythroid biology and disease was envisioned in the mid-1990s as a logical offshoot of efforts to map the human genome. Although a completed human genome map was not expected until 2005 [Science 279 (1998) 23], the idea of creating a robust and retrievable description of erythroid gene activity was both encouraged and supported on the NIDDK Bethesda campus of the National Institutes of Health. The 5–10-year goals were organized into three parts. The initial project goal involved the collection of sequence data derived from mRNA expressed in developmentally staged erythroblasts. Those cells were isolated prospectively by flow cytometry monitoring of CD71 and glycophorin A expression patterns. Next, the sequence data was organized into a database and integrated with related information available in the public domain. The paramount goal of the project continues to be clinical application. As discussed in this paper, progress already made in each of these areas suggests that genome-based approaches will greatly facilitate future studies of erythroid biology and disease.