Somatic genetic rescue in hematopoietic cells in GATA2 ...

LETTER TO BLOOD| AUGUST 20, 2020

Somatic genetic rescue in hematopoietic cells in GATA2 deficiency

Luiz Fernando B. Catto, Gustavo Borges, André L. Pinto, Diego V. Clé, Fernando Chahud, Barbara A. Santana, Flavia S. Donaires, Rodrigo T. Calado

Blood (2020) 136 (8): 1002–1005.

https://doi.org/10.1182/blood.2020005538

Subjects:

Hematopoiesis and Stem Cells, Red Cells, Iron, and Erythropoiesis

Topics:

cytopenia, gata2 deficiency, gata2 gene, genetics, hearing loss, heterozygote, lymphedema, myelodysplastic syndrome, pulmonary alveolar proteinosis, father

TO THE EDITOR:

Somatic genetic rescue (SGR) is a rare spontaneous event in Mendelian diseases in which an in vivo genetic somatic mutation occurs in a given cell, conferring selective advantage and partially or totally annulling the effect of a pathogenic germline mutation.1  This phenomenon is observed in several inherited bone marrow failure syndromes, including Fanconi anemia,2  telomeropathies,3,4  and Shwachman-Diamond syndrome,5  and is usually associated with hematopoietic recovery. The molecular mechanisms leading to SGR are variable, from the reversion of the original pathogenic mutation (back mutation) or other site-specific mutations in the affected gene, to compensatory mutations in other genes and structural chromosome changes.1 

GATA-binding protein-2 (GATA2) is a transcription factor that contains 2 zinc fingers and a nuclear localization signal that binds to W/GATA/R motifs.6  GATA2 is critical for the development of hematopoietic stem...

REFERENCES

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