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Krüppel-like factor 1 (KLF1) is an essential transcription factor for erythroid development, as demonstrated by  Klf1  knockout mice which die around E14 due to severe anemia. In humans, >140 KLF1 variants, causing different erythroid phenotypes, have been described. The KLF1  Nan  variant, a single amino acid substitution (p.E339D) in the DNA binding domain, causes hemolytic anemia and is dominant over wildtype KLF1. Here we describe the effects of the KLF1  Nan  variant during fetal development. We show that  Nan  embryos have defects in erythroid maturation. RNA-sequencing of the KLF1  Nan  fetal liver cells revealed that Exportin 7 ( Xpo7 ) was among the 782 deregulated genes. This nuclear exportin is implicated in terminal erythroid differentiation; in particular it is involved in nuclear condensation. Indeed, KLF1  Nan  fetal liver cells had larger nuclei and reduced chromatin condensation. Knockdown of XPO7 in wildtype erythroid cells caused a similar phenotype. We propose that reduced expression of XPO7 is partially responsible for the erythroid defects observed in KLF1  Nan  erythroid cells.

The mouse KLF1 Nan variant impairs nuclear condensation and erythroid maturation