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RecQ
RecQ helicase is a family of helicase enzymes initially found in ''Escherichia coli'' that has been shown to be important in genome maintenance. They function through catalyzing the reaction ATP + H2O → ADP + P and thus driving the unwinding of paired DNA and translocating in the 3' to 5' direction. These enzymes can also drive the reaction NTP + H2O → NDP + P to drive the unwinding of either DNA or RNA. Function In prokaryotes RecQ is necessary for plasmid recombination and DNA repair from UV-light, free radicals, and alkylating agents. This protein can also reverse damage from replication errors. In eukaryotes, replication does not proceed normally in the absence of RecQ proteins, which also function in aging, silencing, recombination and DNA repair. Structure RecQ family members share three regions of conserved protein sequence referred to as the: * N-terminal – Helicase * middle – RecQ-conserved (RecQ-Ct) and * C-terminal – Helicase-and-RNase-D C-termina ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Helicase
Helicases are a class of enzymes that are vital to all organisms. Their main function is to unpack an organism's genetic material. Helicases are motor proteins that move directionally along a nucleic double helix, separating the two hybridized nucleic acid strands (hence '' helic- + -ase''), via the energy gained from ATP hydrolysis. There are many helicases, representing the great variety of processes in which strand separation must be catalyzed. Approximately 1% of eukaryotic genes code for helicases. The human genome codes for 95 non-redundant helicases: 64 RNA helicases and 31 DNA helicases. Many cellular processes, such as DNA replication, transcription, translation, recombination, DNA repair and ribosome biogenesis involve the separation of nucleic acid strands that necessitates the use of helicases. Some specialized helicases are also involved in sensing viral nucleic acids during infection and fulfill an immunological function. Genetic mutations that affect helicase ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
WRN (gene)
Werner syndrome ATP-dependent helicase, also known as DNA helicase, RecQ-like type 3, is an enzyme that in humans is encoded by the ''WRN'' gene. WRN is a member of the RecQ Helicase family. Helicase enzymes generally unwind and separate double-stranded DNA. These activities are necessary before DNA can be copied in preparation for cell division (DNA replication). Helicase enzymes are also critical for making a blueprint of a gene for protein production, a process called transcription. Further evidence suggests that Werner protein plays a critical role in repairing DNA. Overall, this protein helps maintain the structure and integrity of a person's DNA. The ''WRN'' gene is located on the short (p) arm of chromosome 8 between positions 12 and 11.2, from base pair 31,010,319 to base pair 31,150,818. Structure and function WRN is a member of the RecQ Helicase family. It is the only RecQ Helicase that contains 3' to 5' exonuclease activity. These exonuclease activities includ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
RECQL5
ATP-dependent DNA helicase Q5 is an enzyme that in humans is encoded by the ''RECQL5'' gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei .... Interactions RECQL5 has been shown to interact with EEF1G. References Further reading * * * * * * * * {{gene-17-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Werner Syndrome
Werner syndrome (WS) or Werner's syndrome, also known as "adult progeria",James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. . is a rare autosomal recessive disorder which is characterized by the appearance of premature aging. Werner syndrome is named after the German scientist Otto Werner. He identified the syndrome in four siblings observed with premature aging, which he explored as the subject of his dissertation of 1904. It has a global incidence rate of less than 1 in 100,000 live births (although incidence in Japan and Sardinia is higher, affecting 1 in 20,000–40,000 and 1 in 50,000, respectively). 1,300 cases had been reported as of 2006. Affected individuals typically grow and develop normally until puberty; the mean age of diagnosis is twenty-four, often realized when the adolescent growth spurt is not observed. The youngest person diagnosed was six years old. The median and mean ages ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
RECQL4
ATP-dependent DNA helicase Q4 is an enzyme that in humans is encoded by the ''RECQL4'' gene. Mutations in ''RECQL4'' are associated with the autosomal recessive disease Rothmund–Thomson syndrome, a disorder that has features of premature aging. In addition to the Rothmund–Thomson syndrome, ''RECQL4'' mutations are also associated with RAPADILINO and Baller–Gerold syndromes. There are two types of Rothmund Thomson syndrome and it is Type 2 that occurs in patients carrying deleterious mutations in both copies of the ''RECQL4'' gene. This condition is associated with a high risk of developing osteosarcoma (malignant tumor of the bone). ''RECQL4'' gets its name from being homologous (sharing sequence) with other members of the RecQ helicase family. Two other genetic diseases are due to mutations in other RECQ helicases. Bloom syndrome is associated with mutations in the ''BLM'' gene and Werner syndrome is associated with mutations in the ''WRN'' gene. DNA repair Double- ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bloom Syndrome
Bloom syndrome (often abbreviated as BS in literature) is a rare autosomal recessive genetic disorder characterized by short stature, predisposition to the development of cancer, and genomic instability. BS is caused by mutations in the '' BLM'' gene which is a member of the RecQ DNA helicase family. Mutations in genes encoding other members of this family, namely '' WRN'' and '' RECQL4'', are associated with the clinical entities Werner syndrome and Rothmund–Thomson syndrome, respectively. More broadly, Bloom syndrome is a member of a class of clinical entities that are characterized by chromosomal instability, genomic instability, or both, and cancer predisposition. Cells from a person with Bloom syndrome exhibit a striking genomic instability that includes excessive crossovers between homologous chromosomes and sister chromatid exchanges (SCEs). New York dermatologist Dr. David Bloom discovered and first described the condition in 1954. Bloom syndrome has also appeared in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bloom Syndrome (gene)
Bloom syndrome protein is a protein that in humans is encoded by the ''BLM'' gene and is not expressed in Bloom syndrome. The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3' → 5' helicase activity. The normal protein may act to suppress inappropriate homologous recombination. Meiosis Recombination during meiosis is often initiated by a DNA double-strand break (DSB). During recombination, sections of DNA at the 5' ends of the break are cut away in a process called resection. In the strand invasion step that follows, an overhanging 3' end of the broken DNA molecule then "invades" the DNA of an homologous chromosome that is not broken. After strand invasion, the further sequence of events may follow either of two main pathways leading to a crossover (CO) or a non-crosso ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
RMI1
RecQ-mediated genome instability protein 1 is a protein that in humans is encoded by the ''RMI1'' gene. Genetic disorders Mutations in RMI1 are associated with Bloom-Syndrome like disorder. Two patients, both with microcephalic dwarfism came from the same family. They carried identical heterozygous mutations: 255_1259delLys419LeufsTer5]. Function RMI1 protein is a component of the Bloom Syndrome Complex. RMI1 protein is made up of 2 OB (oligonucleotide binding) domains. OB1 binds to TOP3A, Topoisomerase III alpha, while OB2 binds to RMI2 within the Bloom Syndrome complex, and FANCM of the Fanconi Anaemia pathway. An insert within OB1 domain of RMI1 inserts into the catalytic centre of Topoisomerase III alpha, and is necessary for the optimal activity of this enzyme during cellular DNA repair and homologous recombination. Meiosis During meiosis in budding yeast ''Saccharomyces cerevisiae'', TOP3 (a type I topoisomerase) and its accessory factor RMI1 form a heterodimer ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Atherosclerosis
Atherosclerosis is a pattern of the disease arteriosclerosis, characterized by development of abnormalities called lesions in walls of arteries. This is a chronic inflammatory disease involving many different cell types and is driven by elevated blood levels of cholesterol. These lesions may lead to narrowing of the arterial walls due to buildup of atheromatous plaques. At the onset, there are usually no symptoms, but if they develop, symptoms generally begin around middle age. In severe cases, it can result in coronary artery disease, stroke, peripheral artery disease, or kidney disorders, depending on which body part(s) the affected arteries are located in the body. The exact cause of atherosclerosis is unknown and is proposed to be multifactorial. Risk factors include dyslipidemia, abnormal cholesterol levels, elevated levels of inflammatory biomarkers, high blood pressure, diabetes, smoking (both active and passive smoking), obesity, genetic factors, family history, lifes ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Adenosine Triphosphate
Adenosine triphosphate (ATP) is a nucleoside triphosphate that provides energy to drive and support many processes in living cell (biology), cells, such as muscle contraction, nerve impulse propagation, and chemical synthesis. Found in all known forms of life, it is often referred to as the "molecular unit of currency" for intracellular energy transfer. When consumed in a Metabolism, metabolic process, ATP converts either to adenosine diphosphate (ADP) or to adenosine monophosphate (AMP). Other processes regenerate ATP. It is also a Precursor (chemistry), precursor to DNA and RNA, and is used as a coenzyme. An average adult human processes around 50 kilograms (about 100 mole (unit), moles) daily. From the perspective of biochemistry, ATP is classified as a nucleoside triphosphate, which indicates that it consists of three components: a nitrogenous base (adenine), the sugar ribose, and the Polyphosphate, triphosphate. Structure ATP consists of three parts: a sugar, an amine base ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Diabetes
Diabetes mellitus, commonly known as diabetes, is a group of common endocrine diseases characterized by sustained high blood sugar levels. Diabetes is due to either the pancreas not producing enough of the hormone insulin, or the cells of the body becoming unresponsive to insulin's effects. Classic symptoms include polydipsia (excessive thirst), polyuria (excessive urination), polyphagia (excessive hunger), weight loss, and blurred vision. If left untreated, the disease can lead to various health complications, including disorders of the cardiovascular system, eye, kidney, and nerves. Diabetes accounts for approximately 4.2 million deaths every year, with an estimated 1.5 million caused by either untreated or poorly treated diabetes. The major types of diabetes are type 1 and type 2. The most common treatment for type 1 is insulin replacement therapy (insulin injections), while anti-diabetic medications (such as metformin and semaglutide) and lifestyle modificatio ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
