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Recently, heterozygous germline mutations were identified in sterile alpha motif (SAM) domain-9 (SAMD9) and its paralog, SAMD9-like (SAMD9L) in children with monosomy 7 mediated MDS. Expression of SAMD9 and SAMD9L is induced by interferons and other inflammatory stimuli and causes reduced cell divis...
ORGANISM(S): Homo sapiens (Human) 
2021-03-24 | PXD020018 | Pride
hiPSC were derived from fibroblasts of two patients carrying a heterozygous mutation in the SAMD9 gene. The patients have a multisystem disorder of intrauterine growth restriction (IUGR) with gonadal, adrenal and bone marrow failure and high mortality. To examine a potential influence of the SAMD9 m...
ORGANISM(S): Homo sapiens 
Transcriptional responses to SAMD9 overexpression in A549 cells
Human SAMD9 is a Virus-Activatable Anticodon Nuclease Inhibiting Codon-Specific Protein Synthesis
The goal of this study is to use RNA-sequencing to profile the transcriptional changes in A549 cells with SAMD9 overexpression by plasmid transfection. Specifically, we were interested in determining the interferons and chemokines induced by SAMD9 overexpression. We observed that each of the type II...
ORGANISM(S): Homo sapiens 
2024-12-31 | GSE228684 | GEO
Human SAMD9 is a Poxvirus-Activatable Anticodon Nuclease Inhibiting Codon-Specific Protein Synthesis
Structure and Function of an Effector Domain in Antiviral Factors and Tumor Suppressors SAMD9 and SAMD9L
Overexpression of human SAMD9 inhibits protein translation and alters MYC signaling resulting in cell cycle arrest
As a defense strategy against viruses or competitors, some microbes employ anticodon nucleases (ACNases) to deplete essential tRNAs, effectively halting global protein synthesis. However, this mechanism has not been observed in multicellular eukaryotes. Here, we report that human SAMD9 is an ACNase ...
ORGANISM(S): Homo sapiens 
2023-06-07 | GSE229979 | GEO
Inherited bone marrow failure syndromes (iBMFS) often result from pathogenic mutations in genes that are important for ribosome function, namely, Diamond-Blackfan anemia, Shwachman-Diamond syndrome, and dyskeratosis congenita. Germline mutations in SAMD9 are a frequent genetic lesion resulting in an...
ORGANISM(S): Homo sapiens 
2025-05-07 | GSE269946 | GEO
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