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Turning up the HEAT(R3) in Diamond-Blackfan anemia.

Accepted version
Peer-reviewed

Type

Article

Change log

Authors

Warren, Alan J 

Abstract

In this issue of Blood, O’Donohue et al1 identify biallelic mutations in HEATR3 as the underpinning cause of Diamond-Blackfan anemia (DBA) in 4 unrelated pedigrees. By using primary human cells, cell lines, and yeast models with HEATR3 deficiency, they delineate a mechanism by which reduced HEATR3 leads to erythroid failure. The mechanism includes impaired nuclear import of ribosomal protein uL18 (encoded by RPL5), defects in ribosomal RNA processing, and reduced production of the large (60S) ribosomal subunit, leading to p53-independent perturbation of erythroid development.

Description

Keywords

Active Transport, Cell Nucleus, Anemia, Diamond-Blackfan, Humans, Mutation, Ribosomal Proteins

Journal Title

Blood

Conference Name

Journal ISSN

0006-4971
1528-0020

Volume Title

139

Publisher

American Society of Hematology
Sponsorship
MRC (MR/T012412/1)
Blood Cancer UK (21002)