What is ASXL1 mutation?
ASXL1 mutations are frameshift and nonsense mutations that are supposed to result in C-terminal truncation of the protein upstream of the PHD finger (Figure 1). The functional relevance of some reported missense mutations is not clear.
What does ASXL1 stand for?
ASXL1 (ASXL Transcriptional Regulator 1) is a Protein Coding gene. Diseases associated with ASXL1 include Bohring-Opitz Syndrome and Myelodysplastic Syndrome. Among its related pathways are Metabolism of proteins and CDK-mediated phosphorylation and removal of Cdc6.
What is TET2 gene?
The TET2 gene provides instructions for making a protein whose function is unknown. Based on the function of similar proteins, researchers believe the TET2 protein is involved in regulating the process of transcription, which is the first step in protein production.
What is SRSF2 mutation?
SRSF2 is a gene encoding critical spliceosomal proteins. SRSF2 mutations appear to play an important role in pathogenesis of MMOS, particularly in chronic myelomonocytic leukemia. Inhibition of splicing may be a new therapeutic approach.
What is RUNX1 mutation?
RUNX1-familial platelet disorder (RUNX1-FPD) with predisposition to hematologic malignancies is a hereditary disorder due to being born with an error, called a mutation, in the gene RUNX1 ¹. The mutation is passed down from generation to generation, and patients are at a heightened risk for developing blood cancers.
Does everyone have the TP53 gene?
Everyone has two copies of the TP53 gene, which we randomly inherit from each of our parents. Mutations in one copy of the TP53 gene can increase the chance for you to develop certain types of cancer in your lifetime. People with TP53 mutations have Li-Fraumeni syndrome (LFS).
Is TET2 a tumor suppressor?
Tet2 in myeloid lineages and myeloid malignancies Tet2-KO mice recapitulate characteristics of patients with myeloid cancer, indicating that Tet2 plays a functional role as a tumor suppressor to sustain hematopoietic cell homeostasis.
What is a TET protein?
The Ten-eleven translocation (TET) family proteins are evolutionarily conserved dioxygenases responsible for the conversion of 5-methylcytosine to 5-hydroxymethylcytosine, thereby promoting DNA demethylation. There are three members in this family, namely TET1, TET2, and TET3.
What is the RUNX2 gene?
The RUNX2 gene provides instructions for making a protein that is involved in the development and maintenance of the teeth, bones, and cartilage. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development.
What is ETV6 RUNX1?
ETV6/RUNX1 (E/R) is the most common fusion gene in childhood acute lymphoblastic leukemia (ALL). Multiple lines of evidence imply a “two-hit” model for the molecular pathogenesis of E/R-positive ALL, whereby E/R rearrangement is followed by a series of secondary mutations that trigger overt leukemia.
What is the difference between TP53 and p53?
The TP53 is a gene that instructs the cell to produce tumor protein (p53) ; a vital transcription factor and tumor suppressor. P53 is known as the “guardian of the genome” as it helps in regulating the cell cycle and acts as a tumor suppressor.
Is the ASXL1 gene associated with Bohring-Opitz syndrome?
Frameshift mutation in the ASXL1 gene is associated with Bohring-Opitz syndrome. De novo mutation in ASXL1 gene is associated with Bohring-Opitz syndrome. the present results indicate that the truncating ASXL1 mutant is indeed expressed in MDS cells and may play a role in MDS pathogenesis not previously considered.
What is Bohring-Opitz syndrome?
Bohring-Opitz Syndrome (BOS) is a ultra rare congenital genetic condition characterized by intrauterine growth restriction (IUGR) and failure to thrive with feedings difficulties and severe developmental delay.
What is the pathophysiology of ASXL1?
ASXL1 gene mutations reduce the amount of functional ASXL1 protein available, which likely disrupts the regulation of the activity of HOX genes and other genes during development. Altered activity of these genes probably leads to the neurological and physical features of this condition.
Does ASXL1 gene knock-out cause myelopoiesis?
In a first model of Asxl1 gene knock-out in the mouse ASXL1 loss mildly perturbed myelopoiesis but did not trigger an actual hematological malignancy [ 47 ]. However, the effect of the absence of ASXL1 protein may have been masked by partially penetrant perinatal lethality.