Homo sapiens
Ontology highlight
ABSTRACT:
PROVIDER: PRJNA808814 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:Inherited Bone Marrow Failure Syndromes
| PRJNA417131 | ENA
Project description:Inherited Bone Marrow Failure Syndromes
| PRJNA417130 | ENA
Project description:Screening Protocol and Longitudinal Study Of Bone Marrow Failure Syndromes And Cytopenias - BMFC 5401
| PRJNA188263 | ENA
Project description:Screening Protocol and Longitudinal Study Of Bone Marrow Failure Syndromes And Cytopenias - BMFC 5401
| PRJNA188264 | ENA
Project description:Inherited bone marrow failure syndromes 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 were identified in recent years as a frequent genetic lesion resulting in inherited bone marrow failure and monosomy 7, some patients even have severe multisystem syndromes that include myelodysplasia such as MIRAGE and ataxia-pancytopenia syndromes. The association of germline SAMD9 mutations and bone marrow failure is clear, but to date, there is no reliable method to predict if a novel SAMD9 mutation is pathogenic unless it is accompanied by an obvious family history and/or clinical syndrome. The difficulty with pathogenicity prediction is, in part, due to the incomplete understanding of the biological functions of SAMD9. Here, we used a SAMD9-targeted, inducible CRISPRa/i system to better understand the transcriptional changes that result from SAMD9 transcriptional manipulation. We also used cross-linking and solid phase purification to demonstrate that SAMD9 is an RNA binding protein, and that it is likely through this RNA binding function that SAMD9 affects ribosome biogenesis and subsequently global protein translation and cell proliferation. Thus, ribosome dysfunction contributes to SAMD9-related bone marrow failure like other classical inherited bone marrow failure syndromes.
2025-06-30 | GSE235190 | GEO
Project description:Structural genomic variation analysis in patients with bone marrow failure using Illumina Infinium SNP Arrays [Omni1-Quad]
| PRJNA210313 | ENA
Project description:Kynureninase is a member of a large family of catalytically diverse but structurally homologous pyridoxal 5'-phosphate (PLP) dependent enzymes known as the aspartate aminotransferase superfamily or alpha-family. The Homo sapiens and other eukaryotic constitutive kynureninases preferentially catalyze the hydrolytic cleavage of 3-hydroxy-l-kynurenine to produce 3-hydroxyanthranilate and l-alanine, while l-kynurenine is the substrate of many prokaryotic inducible kynureninases. The human enzyme was cloned with an N-terminal hexahistidine tag, expressed, and purified from a bacterial expression system using Ni metal ion affinity chromatography. Kinetic characterization of the recombinant enzyme reveals classic Michaelis-Menten behavior, with a Km of 28.3 +/- 1.9 microM and a specific activity of 1.75 micromol min-1 mg-1 for 3-hydroxy-dl-kynurenine. Crystals of recombinant kynureninase that diffracted to 2.0 A were obtained, and the atomic structure of the PLP-bound holoenzyme was determined by molecular replacement using the Pseudomonas fluorescens kynureninase structure (PDB entry 1qz9) as the phasing model. A structural superposition with the P. fluorescens kynureninase revealed that these two structures resemble the "open" and "closed" conformations of aspartate aminotransferase. The comparison illustrates the dynamic nature of these proteins' small domains and reveals a role for Arg-434 similar to its role in other AAT alpha-family members. Docking of 3-hydroxy-l-kynurenine into the human kynureninase active site suggests that Asn-333 and His-102 are involved in substrate binding and molecular discrimination between inducible and constitutive kynureninase substrates.
| S-EPMC2531291 | biostudies-literature
Project description:Structural genomic variation analysis in patients with bone marrow failure using Illumina Infinium SNP Arrays [Illumina Quad610 Beadchip]
| PRJNA210312 | ENA
Project description:RNA extracted at 240min. Samples are rRNA depleted. Expression measurement of Homo sapiens genes.
2019-07-31 | GSE114179 | GEO
Project description:1,322 morphologically unidentified fragmentary bone specimens were analyzed using MALDI-TOF and a subset of 341 bone specimens with LC-MS/MS in order to characterize their proteome for species identification and potential hominin specimens related to the LRJ transitional period derived from the site Ilsenhöhle Ranis, Germany (50°39.7563’N, 11°33.9139’E).
2023-10-20 | PXD043272 | Pride