Dynamical Genetics
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Dynamical Genetics
Dynamical genetics concerns the study and the interpretation of those phenomena in which physiological enzymatic protein complexes alter the DNA, in a more or less sophisticated way. The study of such mechanisms is important firstly since they promote useful functions, as for example the immune system recombination (on individual scale) and the crossing-over (on evolutionary scale); secondly since they may sometimes become harmful because of some malfunctioning, causing for example neurodegenerative disorders. Typical examples of dynamical genetics subjects are: * dynamic mutations, term introduced by Robert I. Richards and Grant R. Sutherland to indicate mutations caused by other mutations; this phenomenon often involves the variable number tandem repeats,{{cite journal , last1=Fonzo , first1=VD , last2=Bersani , first2=E , last3=Aluffi-Pentini , first3=F , last4=Parisi , first4=V , title=DNA quadruplexes and dynamical genetics. , journal=Medical Hypotheses , date=July 2001 ...
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Enzyme
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products. Almost all metabolic processes in the cell need enzyme catalysis in order to occur at rates fast enough to sustain life. Metabolic pathways depend upon enzymes to catalyze individual steps. The study of enzymes is called ''enzymology'' and the field of pseudoenzyme analysis recognizes that during evolution, some enzymes have lost the ability to carry out biological catalysis, which is often reflected in their amino acid sequences and unusual 'pseudocatalytic' properties. Enzymes are known to catalyze more than 5,000 biochemical reaction types. Other biocatalysts are catalytic RNA molecules, called ribozymes. Enzymes' specificity comes from their unique three-dimensional structures. Like all catalysts, enzymes increase the reaction ra ...
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Anita Harding
Anita Elizabeth Harding (17 September 1952 – 11 September 1995) was an Irish-British neurologist, and Professor of Clinical Neurology at the Institute of Neurology of the University of London. She is known for the discovery with Ian Holt and John Morgan-Hughes of the "first identification of a mitochondrial DNA mutation in human disease and the concept of tissue heteroplasmy of mutant mitochondrial DNA", published in ''Nature'' in 1986. In 1985 she established the first neurogenetics research group in the United Kingdom at the UCL Institute of Neurology. Biography Born in Ireland, Harding was educated at the King Edward VI High School for Girls and the Royal Free Hospital Medical School, where she qualified in 1975. She married neurology professor P.K. Thomas two years later, and trained as a neurologist. She pursued further clinical training at Hammersmith Hospital and the National Hospital for Neurology and Neurosurgery, and worked with laboratories in Cardiff and th ...
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Helicase
Helicases are a class of enzymes thought to be 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 acid phosphodiester backbone, separating two hybridized nucleic acid strands (hence '' helic- + -ase''), using energy 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 of viral nucleic acids during infection and fulfill a immunological function. Function Helicases are o ...
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Thomas Hunt Morgan
Thomas Hunt Morgan (September 25, 1866 – December 4, 1945) was an American evolutionary biologist, geneticist, embryologist, and science author who won the Nobel Prize in Physiology or Medicine in 1933 for discoveries elucidating the role that the chromosome plays in heredity. Morgan received his Ph.D. from Johns Hopkins University in zoology in 1890 and researched embryology during his tenure at Bryn Mawr. Following the rediscovery of Mendelian inheritance in 1900, Morgan began to study the genetic characteristics of the fruit fly ''Drosophila melanogaster''. In his famous Fly Room at Columbia University's Schermerhorn Hall, Morgan demonstrated that genes are carried on chromosomes and are the mechanical basis of heredity. These discoveries formed the basis of the modern science of genetics. During his distinguished career, Morgan wrote 22 books and 370 scientific papers. As a result of his work, ''Drosophila'' became a major model organism in contemporary genetics. The ...
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Frederick Griffith
Frederick Griffith (1877–1941) was a British bacteriologist whose focus was the epidemiology and pathology of bacterial pneumonia. In January 1928 he reported what is now known as Griffith's Experiment, the first widely accepted demonstrations of bacterial transformation, whereby a bacterium distinctly changes its form and function. He showed that ''Streptococcus pneumoniae'', implicated in many cases of lobar pneumonia, could transform from one strain into a different strain. The observation was attributed to an unidentified underlying principle, later known in the Avery laboratory as the "transforming principle" (abbreviated as T. P.) and identified as DNA. America's leading pneumococcal researcher, Oswald T. Avery, speculated that Griffith had failed to apply adequate controls. A cautious and thorough researcher, and a reticent individual, Griffith's tendency was to publish only findings that he believed truly significant, and Griffith's findings were rapidly confirmed ...
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Horizontal DNA Transfer
Horizontal gene transfer (HGT) or lateral gene transfer (LGT) is the movement of genetic material between unicellular and/or multicellular organisms other than by the ("vertical") transmission of DNA from parent to offspring (reproduction). HGT is an important factor in the evolution of many organisms. HGT is influencing scientific understanding of higher order evolution while more significantly shifting perspectives on bacterial evolution. Horizontal gene transfer is the primary mechanism for the spread of antibiotic resistance in bacteria, and plays an important role in the evolution of bacteria that can degrade novel compounds such as human-created pesticides and in the evolution, maintenance, and transmission of virulence. It often involves temperate bacteriophages and plasmids. Genes responsible for antibiotic resistance in one species of bacteria can be transferred to another species of bacteria through various mechanisms of HGT such as transformation, transduction and c ...
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Antibody
An antibody (Ab), also known as an immunoglobulin (Ig), is a large, Y-shaped protein used by the immune system to identify and neutralize foreign objects such as pathogenic bacteria and viruses. The antibody recognizes a unique molecule of the pathogen, called an antigen. Each tip of the "Y" of an antibody contains a paratope (analogous to a lock) that is specific for one particular epitope (analogous to a key) on an antigen, allowing these two structures to bind together with precision. Using this binding mechanism, an antibody can ''tag'' a microbe or an infected cell for attack by other parts of the immune system, or can neutralize it directly (for example, by blocking a part of a virus that is essential for its invasion). To allow the immune system to recognize millions of different antigens, the antigen-binding sites at both tips of the antibody come in an equally wide variety. In contrast, the remainder of the antibody is relatively constant. It only occurs in a few varia ...
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Tonegawa Susumu
is a Japanese scientist who was the sole recipient of the Nobel Prize for Physiology or Medicine in 1987 for his discovery of V(D)J recombination, the genetic mechanism which produces antibody diversity. Although he won the Nobel Prize for his work in immunology, Tonegawa is a molecular biologist by training and he again changed fields following his Nobel Prize win; he now studies neuroscience, examining the molecular, cellular and neuronal basis of memory formation and retrieval. Early life and education Tonegawa was born in Nagoya, Japan and attended Hibiya High School in Tokyo. While a student at Kyoto University, Tonegawa became fascinated with operon theory after reading papers by François Jacob and Jacques Monod, whom he credits in part for inspiring his interest in molecular biology. Tonegawa graduated from Kyoto University in 1963 and, due to limited options for molecular biology study in Japan at the time, moved to the University of California, San Diego to do his ...
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Barbara McClintock
Barbara McClintock (June 16, 1902 – September 2, 1992) was an American scientist and cytogeneticist who was awarded the 1983 Nobel Prize in Physiology or Medicine. McClintock received her PhD in botany from Cornell University in 1927. There she started her career as the leader of the development of maize cytogenetics, the focus of her research for the rest of her life. From the late 1920s, McClintock studied chromosomes and how they change during reproduction in maize. She developed the technique for visualizing maize chromosomes and used microscopic analysis to demonstrate many fundamental genetic ideas. One of those ideas was the notion of genetic recombination by crossing-over during meiosis—a mechanism by which chromosomes exchange information. She produced the first genetic map for maize, linking regions of the chromosome to physical traits. She demonstrated the role of the telomere and centromere, regions of the chromosome that are important in the conservation of gen ...
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Transposon
A transposable element (TE, transposon, or jumping gene) is a nucleic acid sequence in DNA that can change its position within a genome, sometimes creating or reversing mutations and altering the cell's genetic identity and genome size. Transposition often results in duplication of the same genetic material. Barbara McClintock's discovery of them earned her a Nobel Prize in 1983. Its importance in personalized medicine is becoming increasingly relevant, as well as gaining more attention in data analytics given the difficulty of analysis in very high dimensional spaces. Transposable elements make up a large fraction of the genome and are responsible for much of the C-value, mass of DNA in a eukaryotic cell. Although TEs are selfish genetic elements, many are important in genome function and evolution. Transposons are also very useful to researchers as a means to alter DNA inside a living organism. There are at least two classes of TEs: Class I TEs or retrotransposons generally ...
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Nina Fedoroff
Nina Vsevolod Fedoroff (born April 9, 1942) is an American molecular biologist known for her research in life sciences and biotechnology, especially transposable elements or jumping genes. and plant stress response.Elder, Andy (Fall 2002Faces of Penn State, 2002: Nina Fedoroff Pennsylvania State University, PennState Eberly College of Science, Retrieved 14 May 2012 In 2007, President George W. Bush awarded her the National Medal of Science, she is also a member of the United States National Academy of Sciences, the American Academy of Arts and Sciences, the European Academy of Sciences, and the American Academy of Microbiology. Early Days Fedoroff, whose father was a Russian immigrant to the US and her mother a first generation immigrant, was born in Cleveland, Ohio. Her first language was Russian.Nina Fe ...
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Trinucleotide Repeat Disorders
Trinucleotide repeat disorders, also known as microsatellite expansion diseases, are a set of over 50 genetic disorders caused by trinucleotide repeat expansion, a kind of mutation in which repeats of three nucleotides ( trinucleotide repeats) increase in copy numbers until they cross a threshold above which they become unstable. Depending on its location, the unstable trinucleotide repeat may cause defects in a protein encoded by a gene; change the regulation of gene expression; produce a toxic RNA, or lead to chromosome instability. In general, the larger the expansion the faster the onset of disease, and the more severe the disease becomes. Trinucleotide repeats are a subset of a larger class of unstable microsatellite repeats that occur throughout all genomes. The first trinucleotide repeat disease to be identified was fragile X syndrome, which has since been mapped to the long arm of the X chromosome. Patients carry from 230 to 4000 CGG repeats in the gene that causes ...
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