DNA Demethylation
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DNA Demethylation
For molecular biology in mammals, DNA demethylation causes replacement of 5-methylcytosine (5mC) in a DNA sequence by cytosine (C) (see figure of 5mC and C). DNA demethylation can occur by an active process at the site of a 5mC in a DNA sequence or, in replicating cells, by preventing addition of methyl groups to DNA so that the replicated DNA will largely have cytosine in the DNA sequence (5mC will be diluted out). Methylated cytosine is frequently present in the linear DNA sequence where a cytosine is followed by a guanine in a 5' → 3' direction (a CpG site). In mammals, DNA methyltransferases (which add methyl groups to DNA bases) exhibit a strong sequence preference for cytosines at CpG sites. There appear to be more than 20 million CpG dinucleotides in the human genome (see genomic distribution). In mammals, on average, 70% to 80% of CpG cytosines are methylated, though the level of methylation varies with different tissues. Methylated cytosines often occur in groups ...
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DNA Methylation
DNA methylation is a biological process by which methyl groups are added to the DNA molecule. Methylation can change the activity of a DNA segment without changing the sequence. When located in a gene promoter, DNA methylation typically acts to repress gene transcription. In mammals, DNA methylation is essential for normal development and is associated with a number of key processes including genomic imprinting, X-chromosome inactivation, repression of transposable elements, aging, and carcinogenesis. As of 2016, two nucleobases have been found on which natural, enzymatic DNA methylation takes place: adenine and cytosine. The modified bases are N6-methyladenineD. B. Dunn, J. D. Smith: ''The occurrence of 6-methylaminopurine in deoxyribonucleic acids.'' In: ''Biochem J.'' 68(4), Apr 1958, S. 627–636. PMID 13522672. ., 5-methylcytosineB. F. Vanyushin, S. G. Tkacheva, A. N. Belozersky: ''Rare bases in animal DNA.'' In: ''Nature.'' 225, 1970, S. 948–949. PMID 4391887. and N4- ...
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Sperm
Sperm is the male reproductive cell, or gamete, in anisogamous forms of sexual reproduction (forms in which there is a larger, female reproductive cell and a smaller, male one). Animals produce motile sperm with a tail known as a flagellum, which are known as spermatozoa, while some red algae and fungi produce non-motile sperm cells, known as spermatia. Flowering plants contain non-motile sperm inside pollen, while some more basal plants like ferns and some gymnosperms have motile sperm. Sperm cells form during the process known as spermatogenesis, which in amniotes ( reptiles and mammals) takes place in the seminiferous tubules of the testes. This process involves the production of several successive sperm cell precursors, starting with spermatogonia, which differentiate into spermatocytes. The spermatocytes then undergo meiosis, reducing their chromosome number by half, which produces spermatids. The spermatids then mature and, in animals, construct a tail, or flagellum, ...
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Gonadal Ridge
The genital ridge (or gonadal ridge) is the precursor to the gonads. The genital ridge initially consists mainly of mesenchyme and cells of underlying mesonephric origin. Once oogonia enter this area they attempt to associate with these somatic cells. Development proceeds and the oogonia become fully surrounded by a layer of cells (pre-granulosa cells). The genital ridge appears at approximately five weeks, and gives rise to the sex cords. Associated genes Genes associated with the developing gonad can be categorized into those that form the sexually indifferent gonad, those that determine whether the indifferent gonad will differentiate as male or female, and those that promote differentiation into male or female parts. Genes that form the sexually indifferent gonad are '' SF1'' and ''WT1''. Genes that determine sex are '' SRY'', ''SOX9'', and ''DAX1''. Genes driving the differentiation into male or female structures are ''SF1'', ''WT1'', and ''WNT4''. SRY is the only gene exp ...
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Somatic Cell
A somatic cell (from Ancient Greek σῶμα ''sôma'', meaning "body"), or vegetal cell, is any biological cell forming the body of a multicellular organism other than a gamete, germ cell, gametocyte or undifferentiated stem cell. Such cells compose the body of an organism and divide through the process of binary fission and mitotic division. In contrast, gametes are cells that fuse during sexual reproduction, germ cells are cells that give rise to gametes, and stem cells are cells that can divide through mitosis and differentiate into diverse specialized cell types. For example, in mammals, somatic cells make up all the internal organs, skin, bones, blood and connective tissue, while mammalian germ cells give rise to spermatozoa and ova which fuse during fertilization to produce a cell called a zygote, which divides and differentiates into the cells of an embryo. There are approximately 220 types of somatic cell in the human body. Theoretically, these cells are not germ cells (t ...
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Embryo
An embryo is an initial stage of development of a multicellular organism. In organisms that reproduce sexually, embryonic development is the part of the life cycle that begins just after fertilization of the female egg cell by the male sperm cell. The resulting fusion of these two cells produces a single-celled zygote that undergoes many cell divisions that produce cells known as blastomeres. The blastomeres are arranged as a solid ball that when reaching a certain size, called a morula, takes in fluid to create a cavity called a blastocoel. The structure is then termed a blastula, or a blastocyst in mammals. The mammalian blastocyst hatches before implantating into the endometrial lining of the womb. Once implanted the embryo will continue its development through the next stages of gastrulation, neurulation, and organogenesis. Gastrulation is the formation of the three germ layers that will form all of the different parts of the body. Neurulation forms the nervous ...
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Germ Cell
Germ or germs may refer to: Science * Germ (microorganism), an informal word for a pathogen * Germ cell, cell that gives rise to the gametes of an organism that reproduces sexually * Germ layer, a primary layer of cells that forms during embryonic development * Cereal germ, the reproductive part of a cereal grain * Tooth germ, an aggregation of cells that eventually forms a tooth * Germ theory of disease, which states that some diseases are caused by microorganisms * Germ (mathematics), an object in a topological space that captures local properties Art and media Music * Germs (band), an American punk rock band * Germ (musician), a stage name of Tim Wright * Germ (rapper), an American rapper affiliated with Suicideboys and Pouya * "Germs" (song), by "Weird Al" Yankovic * ''The Germ'' (album), by Victim's Family Others * "Germs" (''Invader Zim''), an episode of ''Invader Zim'' * ''The Germ'' (periodical), a British art magazine published in 1850 * The Germs (comics) ...
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Epiblast
In amniote embryonic development, the epiblast (also known as the primitive ectoderm) is one of two distinct cell layers arising from the inner cell mass in the mammalian blastocyst, or from the blastula in reptiles and birds, the other layer is the hypoblast. It derives the embryo proper through its differentiation into the three primary germ layers, ectoderm, mesoderm and endoderm, during gastrulation. The amnionic ectoderm and extraembryonic mesoderm also originate from the epiblast. The other layer of the inner cell mass, the hypoblast, gives rise to the yolk sac, which in turn gives rise to the chorion. Discovery of the epiblast The epiblast was first discovered by Christian Heinrich Pander (1794-1865), a Baltic German biologist and embryologist. With the help of anatomist Ignaz Döllinger (1770–1841) and draftsman Eduard Joseph d'Alton (1772-1840), Pander observed thousands of chicken eggs under a microscope, and ultimately discovered and described the chicken blastoderm ...
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Blastocyst
The blastocyst is a structure formed in the early embryonic development of mammals. It possesses an inner cell mass (ICM) also known as the ''embryoblast'' which subsequently forms the embryo, and an outer layer of trophoblast cells called the trophectoderm. This layer surrounds the inner cell mass and a fluid-filled cavity known as the blastocoel. In the late blastocyst the trophectoderm is known as the trophoblast. The trophoblast gives rise to the chorion and amnion, the two fetal membranes that surround the embryo. The placenta derives from the embryonic chorion (the portion of the chorion that develops villi) and the underlying uterine tissue of the mother. The name "blastocyst" arises from the Greek ' ("a sprout") and ' ("bladder, capsule"). In other animals this is a structure consisting of an undifferentiated ball of cells and is called a blastula. In humans, blastocyst formation begins about five days after fertilization when a fluid-filled cavity opens up in the mor ...
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Morula
A morula (Latin, ''morus'': mulberry) is an early-stage embryo consisting of a solid ball of cells called blastomeres, contained in mammals, and other animals within the zona pellucida shell. The blastomeres are the daughter cells of the zygote, and when the blastomeres number from 16–32 the ball of cells is called a morula. At the 8-cell stage the blastomeres are round and only loosely adhered. With further division they begin to become flattened, and develop an inside-out polarity that optimises the cell to cell contact. In the human embryo by day four after fertilisation, the morula at about the 32–cell stage begins to take in fluid. The fluid comes about from sodium-potassium pumps (on trophoblasts) that pump sodium into the morula, drawing in water from the maternal environment to become blastocoelic fluid. Hydrostatic pressure of the fluid creates a large cavity in the morula called a blastocoel or blastocyst cavity. Embryoblast cells also known as the inner cell mas ...
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DNMT3B
DNA (cytosine-5)-methyltransferase 3 beta, is an enzyme that in humans in encoded by the DNMT3B gene. Mutation in this gene are associated with immunodeficiency, centromere instability and facial anomalies syndrome. Function CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in ''de novo'' methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. Clinical significance Immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome is a result of defects in lymphocyte maturation resulting from ab ...
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DNA (cytosine-5)-methyltransferase 3A
DNA (cytosine-5)-methyltransferase 3A is an enzyme that catalyzes the transfer of methyl groups to specific CpG structures in DNA, a process called DNA methylation. The enzyme is encoded in humans by the DNMT3A gene. This enzyme is responsible for '' de novo'' DNA methylation. Such function is to be distinguished from maintenance DNA methylation which ensures the fidelity of replication of inherited epigenetic patterns. DNMT3A forms part of the family of DNA methyltransferase enzymes, which consists of the protagonists DNMT1, DNMT3A and DNMT3B. While ''de novo'' DNA methylation modifies the information passed on by the parent to the progeny, it enables key epigenetic modifications essential for processes such as cellular differentiation and embryonic development, transcriptional regulation, heterochromatin formation, X-inactivation, imprinting and genome stability. DNMT3a is the gene most commonly found mutated in clonal hematopoiesis, a common aging-related phenomenon in which ...
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DNMT1
DNA (cytosine-5)-methyltransferase 1 is an enzyme that catalyzes the transfer of methyl groups to specific CpG structures in DNA, a process called DNA methylation. In humans, it is encoded by the ''DNMT1'' gene. DNMT1 forms part of the family of DNA methyltransferase enzymes, which consists primarily of DNMT1, DNMT3A, and DNMT3B. Function This enzyme is responsible for maintaining DNA methylation, which ensures the fidelity of this epigenetic patterns across cell divisions. In line with this role, it has a strong preference towards methylating CpGs on hemimethylated DNA. However, Dnmt1 can catalyze de novo DNA methylation in specific genomic contexts, including transposable elements and paternal imprint control regions. Aberrant methylation patterns are associated with certain human tumors and developmental abnormalities. See also * DNA methyltransferase Interactions DNMT1 has been shown to interact with UHRF1,: * DMAP1, * DNMT3A * DNMT3B, * HDAC2, * PCNA, * RB1. and ...
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