What is ETV6 gene?
ETV6 (ETS Variant Transcription Factor 6) is a Protein Coding gene. Diseases associated with ETV6 include Thrombocytopenia 5 and Hematologic Cancer. Among its related pathways are Diurnally Regulated Genes with Circadian Orthologs and Hematopoietic Stem Cell Gene Regulation by GABP alpha/beta Complex.
What is the ETV6 mutation?
Abstract. Germ line mutations in ETV6 are responsible for a familial thrombocytopenia and leukemia predisposition syndrome. Thrombocytopenia is almost completely penetrant and is usually mild. Leukemia is reported in ∼30% of carriers and is most often B-cell acute lymphoblastic leukemia.
What is TEL gene?
TEL(ETV6)-AML1(RUNX1), generated by the t(12;21) chromosome translocation, is the most common chimeric fusion gene in childhood cancer, selectively associated with B cell precursor acute lymphoblastic leukemia (ALL) (1–3).
What is the study of genes and their function called?
Genetics is a term that refers to the study of genes and their roles in inheritance – in other words, the way that certain traits or conditions are passed down from one generation to another. Genetics involves scientific studies of genes and their effects.
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 MLL rearrangement?
MLL-rearranged ALL (MLL-r-ALL) is characterized by hyperleukocytosis, aggressive behavior with early relapse, relatively high incidence of central nervous system (CNS) involvement, and poor prognosis due to high relapse rates [8,9].
How do genes study function?
The usual approach towards the study of gene function is to insert or inactivate the gene in a cell or an individual, and to observe changes in cell biological behavior or individual phenotypes to identify its function.
What does KMT2A stand for?
Lysine Methyltransferase 2A
KMT2A (Lysine Methyltransferase 2A) is a Protein Coding gene. Diseases associated with KMT2A include Wiedemann-Steiner Syndrome and Acute Myeloid Leukemia With T(9;11)(P22;Q23).
What is RUNX1 RUNX1T1?
RUNX1-RUNX1T1–mutated AML also demonstrates secondary cooperating mutations in KIT, KRAS or NRAS, and ASXL1 as well as in ASXL2. 4,5. RUNX1-RUNX1T1 was one of the first fusion genes to be used for minimal residual disease (MRD) monitoring.
What does MLL gene do?
The MLL gene encodes a DNA-binding protein that methylates histone H3 lysine 4 (H3K4). MLL knockout studies indicate that MLL is necessary for proper regulation of Hox gene expression. Hox genes are a family of transcription factors that regulate many aspects of tissue development.
What is the function of ETV6 in humans?
ETV6 (i.e. translocation-Ets-leukemia virus) protein is a transcription factor that in humans is encoded by the ETV6 (previously known as TEL) gene. The ETV6 protein regulates the development and growth of diverse cell types, particularly those of hematological tissues. However, its gene, ETV6 frequently suffers various mutations
What are the protein products of ETV6 gene fusions?
The chimeric protein products of ETV6 gene fusions with ARNT, TTL, BA22A, FCHO2, MDS2, and CHIC2 likewise lack ETV6 protein’s transcription factor activity. Gene fusions between ETV6 and the homeobox gens (i.e. CDX2, PAX5, and MNX1) produce chimeric proteins with lack either ETV6s and/or CDX2s, PAX5s or MNX1s transcription factor activity.
What kind of cancer is associated with ETV6?
Data indicate that single nucleotide polymorphism rs2238126 in ETS variant 6 transcription factor (ETV6) associated with colorectal cancer risk. ETV6/NTRK3 fusion oncogene is associated with papillary thyroid carcinoma.
What kind of mutations do ETV6 mutations cause?
The ETV6 gene is prone to develop a wide range of acquired mutations in hematological precursor cells that lead to various types of leukemia and/or lymphoma. It may also suffer a smaller number of mutations in non-hematological tissues that leads to solid tumors.
