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Ultra-conserved Element
An ultra-conserved element (UCE) was originally defined as a genome segment longer than 200 base pairs (bp) that is absolutely conserved, with no insertions or deletions and 100% identity, between orthologous regions of the human, rat, and mouse genomes. 481 ultra-conserved elements have been identified in the human genome. If ribosomal DNA (rDNA regions) are excluded, these range in size from 200 bp to 781 bp. UCRs are found on all chromosomes except for 21 and Y. A database collecting genomic information about ultra-conserved elements ( UCbase) is available at http://ucbase.unimore.it. Since its creation, this term's usage has broadened to include more evolutionary distant species or shorter segments, for example 100 bp instead of 200 bp. By some definitions, segments need not be syntetic between species. Human UCEs also show high conservation with more evolutionarily distant species, such as chicken and fugu. Out of 481 identified human UCEs, approximately 97% align with high id ...
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Orthologous
Sequence homology is the biological homology between DNA, RNA, or protein sequences, defined in terms of shared ancestry in the evolutionary history of life. Two segments of DNA can have shared ancestry because of three phenomena: either a speciation event (orthologs), or a duplication event (paralogs), or else a horizontal (or lateral) gene transfer event (xenologs). Homology among DNA, RNA, or proteins is typically inferred from their nucleotide or amino acid sequence similarity. Significant similarity is strong evidence that two sequences are related by evolutionary changes from a common ancestral sequence. Alignments of multiple sequences are used to indicate which regions of each sequence are homologous. Identity, similarity, and conservation The term "percent homology" is often used to mean "sequence similarity”, that is the percentage of identical residues (''percent identity''), or the percentage of residues conserved with similar physicochemical properties ('' ...
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Enhancer (genetics)
In genetics, an enhancer is a short (50–1500 bp) region of DNA that can be bound by proteins ( activators) to increase the likelihood that transcription of a particular gene will occur. These proteins are usually referred to as transcription factors. Enhancers are ''cis''-acting. They can be located up to 1 Mbp (1,000,000 bp) away from the gene, upstream or downstream from the start site. There are hundreds of thousands of enhancers in the human genome. They are found in both prokaryotes and eukaryotes. The first discovery of a eukaryotic enhancer was in the immunoglobulin heavy chain gene in 1983. This enhancer, located in the large intron, provided an explanation for the transcriptional activation of rearranged Vh gene promoters while unrearranged Vh promoters remained inactive. Locations In eukaryotic cells the structure of the chromatin complex of DNA is folded in a way that functionally mimics the supercoiled state characteristic of prokaryotic DNA, so although the enh ...
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Hereditary Nonpolyposis Colorectal Cancer
Hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch syndrome is an autosomal dominant genetic condition that is associated with a high risk of colon cancer as well as other cancers including endometrial cancer (second most common), ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin. The increased risk for these cancers is due to inherited mutations that impair DNA mismatch repair. It is a type of cancer syndrome. Because patients with Lynch syndrome can have polyps, the term HNPCC has fallen out of favor. Signs and symptoms Risk of cancer ''Lifetime risk and mean age at diagnosis for Lynch syndrome associated cancers'' In addition to the types of cancer found in the chart above, it is understood that Lynch syndrome also contributes to an increased risk of small bowel cancer, pancreatic cancer, ureter/renal pelvis cancer, biliary tract cancer, brain cancer, and sebaceous neoplasms. Increased risk of prostate cancer and breast cancer ...
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Hepatocellular Carcinoma
Hepatocellular carcinoma (HCC) is the most common type of primary liver cancer in adults and is currently the most common cause of death in people with cirrhosis. HCC is the third leading cause of cancer-related deaths worldwide. It occurs in the setting of chronic liver inflammation, and is most closely linked to chronic viral hepatitis infection (hepatitis B or C) or exposure to toxins such as alcohol, aflatoxin, or pyrrolizidine alkaloids. Certain diseases, such as hemochromatosis and alpha 1-antitrypsin deficiency, markedly increase the risk of developing HCC. Metabolic syndrome and NASH are also increasingly recognized as risk factors for HCC. As with any cancer, the treatment and prognosis of HCC vary depending on the specifics of tumor histology, size, how far the cancer has spread, and overall health. The vast majority of HCC cases and the lowest survival rates after treatment occur in Asia and sub-Saharan Africa, in countries where hepatitis B infection is endem ...
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TUC338
TUC338 (transcribed ultra-conserved region 338) is an ultra-conserved element which is transcribed to give a non-coding RNA. The TUC338 gene was first identified as uc.338, along with 480 other ultra-conserved elements in the human genome. Expression of this RNA gene has been found to dramatically increase in hepatocellular carcinoma (HCC) cells. The TUC338 RNA gene is 590  base-pairs long, and partially overlaps the gene encoding Poly(rC)-binding protein 2 (PCBP2), a protein involved in mRNA processing. Despite this overlap, PCBP2 and TUC388 were found to be independently expressed. TUC338 is predicted to function in cell growth, possibly at the interface between G1 phase and S phase, and could potentially present a therapeutic target to treat HCC cells. Experimental evidence shows knocking out TUC338 using siRNA Small interfering RNA (siRNA), sometimes known as short interfering RNA or silencing RNA, is a class of double-stranded RNA at first non-coding RNA molecules, ...
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Leukemia
Leukemia ( also spelled leukaemia and pronounced ) is a group of blood cancers that usually begin in the bone marrow and result in high numbers of abnormal blood cells. These blood cells are not fully developed and are called ''blasts'' or ''leukemia cells''. Symptoms may include bleeding and bruising, bone pain, fatigue, fever, and an increased risk of infections. These symptoms occur due to a lack of normal blood cells. Diagnosis is typically made by blood tests or bone marrow biopsy. The exact cause of leukemia is unknown. A combination of genetic factors and environmental (non-inherited) factors are believed to play a role. Risk factors include smoking, ionizing radiation, petrochemicals (such as benzene), prior chemotherapy, and Down syndrome. People with a family history of leukemia are also at higher risk. There are four main types of leukemia— acute lymphoblastic leukemia (ALL), acute myeloid leukemia (AML), chronic lymphocytic leukemia (CLL) and chronic myeloi ...
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Carcinoma
Carcinoma is a malignancy that develops from epithelial cells. Specifically, a carcinoma is a cancer that begins in a tissue that lines the inner or outer surfaces of the body, and that arises from cells originating in the endodermal, mesodermal or ectodermal germ layer during embryogenesis. Carcinomas occur when the DNA of a cell is damaged or altered and the cell begins to grow uncontrollably and become malignant. It is from the el, καρκίνωμα, translit=karkinoma, lit=sore, ulcer, cancer (itself derived from meaning ''crab''). Classification As of 2004, no simple and comprehensive classification system has been devised and accepted within the scientific community. Traditionally, however, malignancies have generally been classified into various types using a combination of criteria, including: The cell type from which they start; specifically: * Epithelial cells ⇨ carcinoma * Non-hematopoietic mesenchymal cells ⇨ sarcoma * Hematopoietic cells **Bone marrow-de ...
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Elizabeth Pennisi
Elizabeth Pennisi is an American science journalist specializing in genomics, evolution, and microbiology. Life Pennisi completed a bachelor's degree in biology at Cornell University. She earned a master's degree in science writing from Boston University. Pennisi worked for the public relations office of a university where she wrote for the school's science magazine. She also worked briefly with United Press International. Pennisi joined ''Science'' in 1996 and became an editor in 2007. She also writes for ''Science News'' for which she won the 1996 James T. Grady-James H. Stack Award for Interpreting Chemistry The James T. Grady-James H. Stack Award for Interpreting Chemistry for the Public is awarded on a yearly basis by the American Chemical Society.
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Hippocampus
The hippocampus (via Latin from Greek , 'seahorse') is a major component of the brain of humans and other vertebrates. Humans and other mammals have two hippocampi, one in each side of the brain. The hippocampus is part of the limbic system, and plays important roles in the consolidation of information from short-term memory to long-term memory, and in spatial memory that enables navigation. The hippocampus is located in the allocortex, with neural projections into the neocortex in humans, as well as primates. The hippocampus, as the medial pallium, is a structure found in all vertebrates. In humans, it contains two main interlocking parts: the hippocampus proper (also called ''Ammon's horn''), and the dentate gyrus. In Alzheimer's disease (and other forms of dementia), the hippocampus is one of the first regions of the brain to suffer damage; short-term memory loss and disorientation are included among the early symptoms. Damage to the hippocampus can also result from ...
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Aristaless Related Homeobox
Aristaless related homeobox is a protein that in humans is encoded by the ''ARX'' gene. Function This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is involved in CNS and pancreas development. Clinical significance Mutation in the ARX gene are associated with X-linked intellectual disability, lissencephaly, as well as hypoglycemia (in mice). See also * homeobox A homeobox is a DNA sequence, around 180 base pairs long, that regulates large-scale anatomical features in the early stages of embryonic development. For instance, mutations in a homeobox may change large-scale anatomical features of the full- ... References Further reading * * * * * * * * * * * * * * * ...
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Knockout
A knockout (abbreviated to KO or K.O.) is a fight-ending, winning criterion in several full-contact combat sports, such as boxing, kickboxing, muay thai, mixed martial arts, karate, some forms of taekwondo and other sports involving striking, as well as fighting-based video games. A full knockout is considered any legal strike or combination thereof that renders an opponent unable to continue fighting. The term is often associated with a sudden traumatic loss of consciousness caused by a physical blow. Single powerful blows to the head (particularly the jawline and temple) can produce a cerebral concussion or a carotid sinus reflex with syncope and cause a sudden, dramatic KO. Body blows, particularly the liver punch, can cause progressive, debilitating pain that can also result in a KO. In boxing and kickboxing, a knockout is usually awarded when one participant falls to the canvas and is unable to rise to their feet within a specified period of time, typically because of ex ...
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Takifugu Rubripes
''Takifugu rubripes'', commonly known as the Japanese puffer, Tiger puffer, or torafugu ( ja, 虎河豚), is a pufferfish in the genus ''Takifugu''. It is distinguished by a very small genome that has been fully sequenced because of its use as a model species and is in widespread use as a reference in genomics. Taxonomy and etymology The species is often referred to in the genomics literature as ''Fugu rubripes''. The genus ''Fugu'' is a synonym of the currently preferred ''Takifugu''. ''Takifugu'' is Japanese for puffer and ''rubripes'' comes from the Latin ''ruber'' and ''pēs'' meaning ruddy foot. Distribution and habitat The species is known from the Sea of Japan, East China Sea and Yellow Sea north to southern Sakhalin, at depths of . It is a demersal species. Spawning occurs in estuaries; young fish can tolerate a wide range of salinities and will remain in river mouths and lagoons, maturing for one year before migrating permanently to the open ocean. Genome A feature of th ...
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