Key points Folate (folic acid) deficiency and mutations in folate‐related genes in humans
result in megaloblastic anaemia. Folate metabolism, which requires the enzyme methionine
synthase reductase (MTRR), is necessary for DNA synthesis and the transmission of one‐
carbon methyl groups for cellular methylation. In this study, we show that the hypomorphic
Mtrrgt/gt mutation in mice results in late‐onset and sex‐specific blood defects, including
macrocytic anaemia, extramedullary haematopoiesis and lymphopenia. Notably, when …

The importance of the vitamin folate (also known as folic acid) in erythrocyte formation,
maturation and/or longevity is apparent since folate deficiency in humans causes
megaloblastic anaemia. Megaloblastic anaemia is a type of macrocytic anaemia whereby
erythrocytes are enlarged and fewer in number. Folate metabolism is required for thymidine
synthesis and one-carbon metabolism, though its specific role in erythropoiesis is not well
understood. Methionine synthase reductase (MTRR) is a key enzyme necessary for the …