Histone-lysine N-methyltransferase 2A, also known as acute lymphoblastic leukemia 1 (ALL-1), myeloid/lymphoid or mixed-lineage leukemia 1 (MLL1), or zinc finger protein HRX (HRX), is an enzyme that in humans is encoded by the KMT2A gene. [5] MLL1 is a histone methyltransferase deemed a positive global regulator of gene transcription.

The mixed-lineage leukemia 1 (MLL1) gene (now renamed Lysine [K]-specific MethylTransferase 2A or KMT2A) on chromosome 11q23 is disrupted in a unique group of acute leukemias.

2024年12月25日 · 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). Among its related pathways are Gene expression (Transcription) and RNA Polymerase I Promoter Opening.

The MLL gene is defined as a gene that encodes a large nuclear protein involved in modifying chromatin to mark specific areas of chromosomes for active transcription. It plays a crucial role in embryonic development, stem cells, and maintaining tissue identity, but its genetic instability can lead to the development of leukemia.

KMT2A (alias: mixed-lineage leukemia [MLL]) gene mapping on chromosome 11q23 encodes the lysine-specific histone N-methyltransferase 2A and promotes transcription by inducing an open chromatin conformation.

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.

Aggressive leukemias arise in both children and adults as a result of rearrangements to the Mixed Lineage Leukemia (MLL) gene located on chromosome 11q23. The MLL gene encodes a large histone methyltransferase that directly binds and positively regulates gene …

2024年4月27日 · The KMT2A gene, initially identified as the MLL gene located at chromosomal position 11q23 [2], was subsequently characterized by several other laboratories in 1992 and 1993.

MLL gene rearrangement is associated with acute lymphocytic leukemia. Our data thus extend MLL1 function to H3K4 methylation and PD-L1 transcription activation in pancreatic cancer cells. KMT2A gene rearrangement is associated with acute megakaryoblastic leukemia in …

2013年3月21日 · In this review we will focus on recent studies, published over the past year, that reveal new insights into the multi-protein complexes formed by MLL and MLL fusion proteins, the role of...

Molecular genetic changes in acute myeloid leukemia (AML) play crucial roles in leukemogenesis, including recurrent chromosome translocations, epigenetic/spliceosome mutations and transcription factor aberrations.

The identification of MLL gene rearrangements represents an important step in the isolation of a series of new genes involved in these leukemias and lymphomas.

2017年6月12日 · The human mixed lineage leukemia (MLL, MLL1, KMT2A) gene is disrupted by chromosomal translocations and other rearrangements in acute lymphoblastic leukemia and acute myeloid leukemia (AML) at high frequency in infants and lower frequencies in children and adults.

Translocations that involve the mixed lineage leukaemia (MLL) gene identify a unique group of acute leukaemias, and often predict a poor prognosis. The MLL gene encodes a DNA-binding protein...

Mixed-lineage-leukemia is an aggressive leukemia that predominantly occurs in pediatric patients and is characterized by the expression of fusion genes involving the histone methyltransferase MLL and a variety of fusion partners.

2004年1月1日 · The mixed lineage leukemia gene, MLL, has been a gene of interest to clinical and basic scientists alike for more than a decade. This gene, located in chromosome band 11q23, is frequently rearranged by translocations, and less often by inversions, in de novo acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML) of infants ...

Chromosomal rearrangements of the MLL gene are associated with high-risk infant, pediatric, adult, and therapy-induced acute leukemias. So far, about 80 different direct MLL fusions and about 120 reciprocal MLL fusions have been characterized at the molecular level.

2011年11月13日 · Translocations of the Mixed Lineage Leukemia (MLL) gene at 11q23 are found in both acute lymphoblastic leukemia (ALL) and acute myeloblastic leukemia (AML). The MLL gene contains an 8 kb breakpoint cluster region in which virtually all rearrangements occur. To date, more than 70 different fusion partners have been identified, although some of ...

MLL is required for normal development, but is also mutated in a subset of aggressive human leukemias and thus provides a useful model for studying the link between epigenetic cell memory and human disease. The most common MLL mutations are chromosome translocations that fuse the MLL gene in frame with partner genes creating novel fusion proteins.

The MLL (mixed-lineage leukemia) gene, located on chromosome 11q23, is involved in chromosomal translocations in a subtype of acute leukemia, which represents approximately 10% of acute lymphoblastic leukemia and 2.8% of acute myeloid leukemia cases.

2025年3月8日 · MLL-mediated H3K4me3 remodeling is an important epigenetic mechanism for menin-mediated regulation of gene transcription . We asked whether this mechanism is essential for menin to regulate the ...