Turning up the HEAT(R3) in Diamond-Blackfan anemia.
Accepted version
Peer-reviewed
Repository URI
Repository DOI
Change log
Authors
Iskander, Deena https://orcid.org/0000-0002-1278-3888
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
1528-0020
Volume Title
139
Publisher
American Society of Hematology
Publisher DOI
Rights
Sponsorship
MRC (MR/T012412/1)
Blood Cancer UK (21002)
Blood Cancer UK (21002)