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SETD1A
SET domain containing protein 1A (SETD1A) is a protein that serves as a component of a histone methyltransferase (HMT) complex that produces mono-, di-, and trimethylated histone H3 at the lys4 residue ( K4). SETD1A is highly homologous with SETDB1 but has a distinct subnuclear distribution. Clinical significance Mutations of the SETD1A gene can cause neurodevelopmental disorder with speech impairment and dysmorphic facies (NEDSID) discovered in 2021, and early-onset epilepsy with or without developmental delay, first described in 2019. According to a review published in 2018, mutations of the SETD1A gene may increase the risk of schizophrenia, based on studies available up to that date. History The protein was first described in human in 2003 by Wysocka et al. See also * SETDB1 - highly homologous to SETD1A * SET domain Set, The Set, SET or SETS may refer to: Science, technology, and mathematics Mathematics *Set (mathematics), a collection of elements * Category of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Histone Methyltransferase
Histone methyltransferases (HMT) are histone-modifying enzymes (e.g., histone-lysine N-methyltransferases and histone-arginine N-methyltransferases), that catalyze the transfer of one, two, or three methyl groups to lysine and arginine residues of histone proteins. The attachment of methyl groups occurs predominantly at specific lysine or arginine residues on histones H3 and H4. Two major types of histone methyltranferases exist, lysine-specific (which can be SET (Su(var)3-9, Enhancer of Zeste, Trithorax) domain containing or non-SET domain containing) and arginine-specific. In both types of histone methyltransferases, S-Adenosyl methionine (SAM) serves as a cofactor and methyl donor group. The genomic DNA of eukaryotes associates with histones to form chromatin. The level of chromatin compaction depends heavily on histone methylation and other post-translational modifications of histones. Histone methylation is a principal epigenetic modification of chromatin that determines ge ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SETDB1
Histone-lysine N-methyltransferase SETDB1 is an enzyme that in humans is encoded by the ''SETDB1'' gene. SETDB1 is also known as KMT1E or H3K9 methyltransferase ESET. Function The SET domain is a highly conserved, approximately 150-amino acid motif implicated in the modulation of chromatin structure. It was originally identified as part of a larger conserved region present in the ''Drosophila'' Trithorax protein and was subsequently identified in the ''Drosophila'' Su(var)3-9 and 'Enhancer of zeste' proteins, from which the acronym SET is derived. Studies have suggested that the SET domain may be a signature of proteins that modulate transcriptionally active or repressed chromatin states through chromatin remodeling activities. Model organisms Model organisms have been used in the study of SETDB1 function. A conditional knockout mouse line, called ''Setdb1tm1a(EUCOMM)Wtsi'' was generated as part of the International Knockout Mouse Consortium program — a high-throughput ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Histone H3
Histone H3 is one of the five main histones involved in the structure of chromatin in eukaryotic cells. Featuring a main globular domain and a long N-terminal tail, H3 is involved with the structure of the nucleosomes of the 'beads on a string' structure. Histone proteins are highly post-translationally modified however Histone H3 is the most extensively modified of the five histones. The term "Histone H3" alone is purposely ambiguous in that it does not distinguish between sequence variants or modification state. Histone H3 is an important protein in the emerging field of epigenetics, where its sequence variants and variable modification states are thought to play a role in the dynamic and long term regulation of genes. Epigenetics and post-translational modifications The N-terminus of H3 protrudes from the globular nucleosome core and is susceptible to post-translational modification that influence cellular processes. These modifications include the covalent attachment ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
H3K4
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H3K4 is the fourth lysine residue on DNA packaging protein Histone H3. It can be marked by epigenetic modification by different amounts of methylation. Modifications include: *H3K4me1 * H3K4me2 *H3K4me3 H3K4me3 is an epigenetic modification to the DNA packaging protein Histone H3 that indicates tri-methylation at the 4th lysine residue of the histone H3 protein and is often involved in the regulation of gene expression. The name denotes the add ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
The development of the nervous system, or neural development (neurodevelopment), refers to the processes that generate, shape, and reshape the nervous system of animals, from the earliest stages of embryonic development to adulthood. The field of neural development draws on both neuroscience and developmental biology to describe and provide insight into the cellular and molecular mechanisms by which complex nervous systems develop, from nematodes and fruit flies to mammals. Defects in neural development can lead to malformations such as holoprosencephaly, and a wide variety of neurological disorders including limb paresis and paralysis, balance and vision disorders, and seizures, and in humans other disorders such as Rett syndrome, Down syndrome and intellectual disability. Overview of vertebrate brain development The vertebrate central nervous system (CNS) is derived from the ectoderm—the outermost germ layer of the embryo. A part of the dorsal ectoderm becomes specifie ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Schizophrenia
Schizophrenia is a mental disorder characterized by continuous or relapsing episodes of psychosis. Major symptoms include hallucinations (typically hearing voices), delusions, and disorganized thinking. Other symptoms include social withdrawal, decreased emotional expression, and apathy. Symptoms typically develop gradually, begin during young adulthood, and in many cases never become resolved. There is no objective diagnostic test; diagnosis is based on observed behavior, a history that includes the person's reported experiences, and reports of others familiar with the person. To be diagnosed with schizophrenia, symptoms and functional impairment need to be present for six months (DSM-5) or one month (ICD-11). Many people with schizophrenia have other mental disorders, especially substance use disorders, depressive disorders, anxiety disorders, and obsessive–compulsive disorder. About 0.3% to 0.7% of people are diagnosed with schizophrenia during their lifetime. In 2 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SET Domain
Set, The Set, SET or SETS may refer to: Science, technology, and mathematics Mathematics *Set (mathematics), a collection of elements * Category of sets, the category whose objects and morphisms are sets and total functions, respectively Electronics and computing * Set (abstract data type), a data type in computer science that is a collection of unique values ** Set (C++), a set implementation in the C++ Standard Library * Set (command), a command for setting values of environment variables in Unix and Microsoft operating-systems * Secure Electronic Transaction, a standard protocol for securing credit card transactions over insecure networks * Single-electron transistor, a device to amplify currents in nanoelectronics * Single-ended triode, a type of electronic amplifier * Set!, a programming syntax in the scheme programming language Biology and psychology * Set (psychology), a set of expectations which shapes perception or thought *Set or sett, a badger's den *Set, a small t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
