Studies in an early development window unveils a severe HSC defect in both murine and human Fanconi anemia [human]

We performed a unique kinetics study of hematopoiesis in Fancg-/- mouse embryos, between E12.5 and E14.5 developmental window. We also report for the first time that a deep HSC defect is also observed during human FA development, and that human FA FL HSCs present a transcriptome profile similar to that of mouse E12.5 Fancg-/- FL HSCs. Sorted CD34+CD38-CD45+CD117hi HSC-enriched population from a unique 13 WG Fanconi FL (FANCB)(n=1) and from control FL from fetuses at the same stage of development (i.e. second trimester, 13 and 17.7 WG) (n=2)were sorted and RNA was purified using RNeasy Plus Micro Kit (Qiagen). RNA concentration and integrity was evaluated with the Agilent Bioanalyzer 2100 and 2 ng of total RNA reverse transcribed following the Ovation Pico System V2 (Nugen). cDNA is then hybridized to GeneChip® HumanGene2.0ST (Affymetrix)