Human VDAC pseudogenes: an emerging role for VDAC1P8 pseudogene in acute myeloid leukemia
Pappalardo, X. G.; Risiglione, P.; Zinghirino, F.; Ostuni, A.; Luciano, D.; Bisaccia, F.; De Pinto, V.; Guarino, F.; Messina, A.
Show abstract
BackgroundVoltage-dependent anion selective channels (VDACs) are the most abundant mitochondrial outer membrane proteins, encoded in mammals by three genes, VDAC1, 2 and 3, mostly ubiquitously expressed. As mitochondrial gatekeepers, VDACs control organelle and cell metabolism and are involved in many diseases. Despite the presence of numerous VDAC pseudogenes in the human genome, their significance and possible role in VDAC protein expression has not yet been considered. ResultsWe investigated the relevance of processed pseudogenes of human VDAC genes, both in physiological and in pathological contexts. Using high-throughput tools and querying many genomic and transcriptomic databases, we show that some VDAC pseudogenes are transcribed in specific tissues and pathological contexts. The obtained experimental data confirm an association of the VDAC1P8 pseudogene with acute myeloid leukemia (AML). ConclusionsOur in-silico comparative analysis between the VDAC1 gene and its VDAC1P8 pseudogene, together with experimental data produced in AML cellular models, indicate a specific over-expression of the VDAC1P8 pseudogene in AML, correlated with a downregulation of the parental VDAC1 gene.
Matching journals
The top 10 journals account for 50% of the predicted probability mass.
Similar papers in this journal
- A Positive Regulatory Feedback Loop Between 1 EKLF/ KLF1 and TAL1/SCL2 Sustaining the Erythropoiesis 94%
- Identification of ATP2B4 regulatory element containing functional genetic variants associated with severe malaria 93%
- Unveiling epigenetic regulatory elements associated with breast cancer development 93%
Similar papers in this journal
- Disruption of c-MYC binding and chromosomal looping involving genetic variants associated with ankylosing spondylitis upstream of RUNX3 promoter 94%
- The usage of human IGHJ genes follows a particular nonrandom selection: The recombination signal sequence affects the usage of human IGHJ genes 93%
- Genome-wide association analyses identify variants in IRF4 associated with acute myeloid leukemia and myelodysplastic syndrome susceptibility 92%
Similar papers in this journal
- STAT5-dependent regulation of CDC25A by miR-16 controls proliferation and differentiation in FLT3-ITD acute myeloid leukemia 95%
- Stratified computational meta-analysis of 2213 acute myeloid leukemia patients reveals age- and sex-dependent gene expression signatures 93%
- High tissue-specificity of lncRNAs maximises the prediction of tissue of origin of circulating DNA 92%
Similar papers in this journal
- Specific methylation marks in promoter regions are associated to the pathogenic process of Chronic Chagas disease Cardiomyopathy by modifying transcription factor binding patterns 94%
- Transcriptional Regulatory Logic Orchestrating Lymphoid and Myeloid Cell Fate Decisions 93%
- Deciphering of Gorilla gorilla gorilla Immunoglobulin Loci in Multiple Genome Assemblies and Enrichment of IMGT Resources 93%
Similar papers in this journal
- Analysis of nucleotide variations in human g-quadruplex forming regions associated with disease states 94%
- TCGA Pan-Cancer genomic analysis of Alternative Lengthening of Telomeres (ALT) related genes 92%
- Structural variability, expression profile and pharmacogenetics properties of TMPRSS2 gene as a potential target for COVID-19 therapy 92%
"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.