Comparison of gene expression results from studies of primary erythroid cells from DBA patients
| . | O’Brien et al study1,*,† . | Yang et al study9 . | Ludwig et al study6,* . |
|---|---|---|---|
| Sample type | CD34+ peripheral blood cultured for 14 d | Bone marrow | Bone marrow |
| Sample origin | DBA (RP), DBA (GATA1), DBA (I), control | DBA (RP), control | DBA (RP), control |
| Culture | 14 d | Multiple, up to 17 d | None |
| Enrichment | CD44+/CD235a−, CD44+/CD235a+ | CD71+CD36−CD235a−, CD71+CD36+CD235a+, CD36+CD235a+, CD36−CD235a+ | CD34+CD71+CD45− |
| Platform | Affymetrix human gene 2.0 ST | RT-qPCR of select targets | Affymetrix U133A |
| ALAS2 mRNA | Increased‡ | Decreased§ | No change |
| GATA1 mRNA | No change | Not measured | No change |
| β-globin mRNA | Increased‡ | Decreased§ | No change |
| GATA1 targets | Increased | N/A | Decreased |
| Heme biosynthesis | Increased | N/A | Decreased |
| Ribosome biogenesis | Decreased | N/A | Decreased |
| . | O’Brien et al study1,*,† . | Yang et al study9 . | Ludwig et al study6,* . |
|---|---|---|---|
| Sample type | CD34+ peripheral blood cultured for 14 d | Bone marrow | Bone marrow |
| Sample origin | DBA (RP), DBA (GATA1), DBA (I), control | DBA (RP), control | DBA (RP), control |
| Culture | 14 d | Multiple, up to 17 d | None |
| Enrichment | CD44+/CD235a−, CD44+/CD235a+ | CD71+CD36−CD235a−, CD71+CD36+CD235a+, CD36+CD235a+, CD36−CD235a+ | CD34+CD71+CD45− |
| Platform | Affymetrix human gene 2.0 ST | RT-qPCR of select targets | Affymetrix U133A |
| ALAS2 mRNA | Increased‡ | Decreased§ | No change |
| GATA1 mRNA | No change | Not measured | No change |
| β-globin mRNA | Increased‡ | Decreased§ | No change |
| GATA1 targets | Increased | N/A | Decreased |
| Heme biosynthesis | Increased | N/A | Decreased |
| Ribosome biogenesis | Decreased | N/A | Decreased |
mRNA, messenger RNA; N/A, not applicable; RT-qPCR, reverse transcription–quantitative polymerase chain reaction.
Gene expression comparisons are for individually SCAN- or RMA-normalized data sets.
Comparing DBA (RP) or (I) vs control.
P = .0997 and .0704, respectively: ALAS2 is in the top 1% of differentially expressed genes (based upon log2 fold change > 0.5 and P < .1) and in conflict with previous report; see analysis in Ulirsch12 for full details.
Observed across all maturation stages in culture.