bluuebunny/crossref_metadata_2025 huggingface dataset:
Biological Control by Microorganisms
Authors: Harper David R
Published: September 2006

Biological control is the use of natural enemies to reduce the numbers of a pest organism. Such natural enemies include pathogenic microorganisms. Biological control agents can be both less toxic and more flexible than chemical pesticides, although their high specificity can impose limitations on commercial development.
Bacterial Chromosome
Authors: Kellenberger Eduard
Published: September 2006

Under conditions of active growth, bacteria replicate their deoxyribonucleic acid (DNA) and divide with generation times as short as 20–25 min; similarly rapid rates are practically unknown in other taxa. In contrast to the typical eukaryotic cell, DNA transcription, translation and replication occur simultaneously and at nearby locations. The highly dynamic processes lead to a reticulation of DNA and ribonucleic acid (RNA), permitting optimization of messenger RNA (mRNA) interaction (number of contacts) with ribosomes.
Halophiles
Authors: DasSarma Shiladitya , DasSarma Priya
Published: September 2006

Halophiles are salt‐loving organisms that inhabit saline and hypersaline environments. They include mainly prokaryotic and eukaryotic microorganisms with the capacity to balance the osmotic pressure of the environment and resist the denaturing effects of salts.
Genes: Types
Authors: Berg Lutz‐Peter , Cooper David N
Published: September 2006

A gene is a segment of DNA that contains in its nucleotide sequence the information to make protein or RNA molecules. Genes are passed on from parent to offspring and therefore constitute the basic units of heredity. The human genome contains more than 30000 protein‐coding genes, several thousand genes for noncoding RNA molecules and many thousands of pseudogenes – the nonfunctional by‐products of gene evolution.
Protein Coding
Authors: Wong Gane Ka‐Shu
Published: September 2006

Protein‐coding genes can be organized into families of similar function, structure and sequence, according to their shared evolutionary histories. Individual proteins are modularly constructed of domains, which are often rearranged on evolutionary timescales to create functionally novel proteins.
Alternative Processing: Neuronal Nitric Oxide Synthase
Authors: Marsden Philip A , Newton Derek C
Published: September 2006

The human neuronal nitric oxide synthase gene is expressed from multiple promoters and is subject to alternate messenger ribonucleic acid processing. These complex molecular mechanisms contribute to regulating gene expression and function in multiple tissues and cell types.
Glutamate Receptors
Authors: Tsuzuki Keisuke , Ozawa Seiji
Published: September 2006

Glutamate receptors mediate most of the excitatory neurotransmission in the central nervous system. They are also involved in plastic changes in synaptic transmission and neuronal cell death in a variety of acute and chronic neurological disorders. Twenty‐five subunit complementary DNAs have been cloned in rodent brains and 24 genes have been identified in the human genome.
DNA
Polymerases: Eukaryotic
Authors: Hübscher Ulrich
Published: September 2006

Deoxyribonucleic acid (DNA) polymerases are enzymes that can use the four bases A, T, G and C to synthesize DNA according to the Watson–Crick base‐pair rule (A to T and G to C). They require a template DNA and a nucleic acid (ribonucleic acid or DNA) for initiation of DNA synthesis and use the energy of the four deoxyribonucleoside 5′ triphosphates to incorporate deoxyribonucleoside 5′ monophosphates onto the template DNA.
Exons: Shuffling
Authors: Patthy László
Published: September 2006

Exon shuffling through recombination in spliceosomal introns had a major role in the evolution of multidomain proteins associated with multicellularity of Metazoa.
Gross Insertions and Microinsertions in Evolution
Authors: Cooper David N
Published: September 2006

Gross insertions and microinsertions are a cause of human inherited disease but have also occurred during vertebrate evolution. For both microinsertions and the insertion of transposable elements, mechanistic models that have explanatory value in the context of genetic disease are also useful to account for the nature and location of evolutionary insertions.
Gene Fusion
Authors: Betrán Esther , Long Manyuan
Published: September 2006

Gene fusion is a process by which the whole or parts of two distinct genes are juxtaposed and fused into a single gene. This phenomenon has been broadly observed in organisms ranging from higher eukaryotes to prokaryotes.
Evolution: Views of
Authors: Crow James F
Published: September 2006

Darwin's original theory of evolution by natural selection is now almost universally accepted by biologists. It has been broadened by the inclusion of Mendelian inheritance and a mathematical formulation, called the new synthesis. Nevertheless, with more detailed study, different views of various aspects of the process have emerged and these are the subject of this article.
Evolution: Selectionist View
Authors: Wagner Andreas
Published: September 2006

The selectionist view of molecular evolution maintains that a large fraction of molecular variation seen in natural populations is due to beneficial mutations.
Pax
Genes: Evolution and Function
Authors: Bouchard Maxime , Schleiffer Alexander , Eisenhaber Frank , Busslinger Meinrad
Published: September 2006

The transcription factors of the Pax protein family have been conserved throughout metazoan evolution and play essential roles in brain development and organogenesis. Loss‐of‐function and gain‐of‐function mutations in
PAX
genes cause inherited disease syndromes and tumor formation respectively.
Pseudogenes and their Evolution
Authors: Cooper David N
Published: September 2006

Pseudogenes have been formed during evolution by duplication or retrotransposition. The origin, age, patterns of mutation and occasional reactivation of pseudogenes are all topics of current study.
GC‐rich Isochores: Origin
Authors: Saccone Salvatore , Bernardi Giorgio
Published: September 2006

In the interphase nuclei of human and other warm‐blooded vertebrates, the most gene‐rich chromosomal regions are located in more internal positions and display much more spread‐out conformations than the most gene‐poor regions, the latter also showing more peripheral nuclear locations.
Selective and Structural Constraints
Authors: Hughes Austin L
Published: September 2006

The neutral theory of molecular evolution predicts that the rate of evolution will be low in portions of genes and of proteins that are functionally important. This insight is the basis for bioinformatics strategies that use sequence information to make functional predictions.
Schizophrenia: Molecular Genetics
Authors: Owen Michael J
Published: September 2006

Molecular genetic studies of schizophrenia have used both linkage and association approaches. Both types of study have resulted in conflicting findings, and unequivocal evidence for linkage or association is as yet lacking. However, systematic linkage studies have revealed several chromosomal areas of potential interest, and candidate gene association studies have suggested that variation within the
HTR2A
and
DRD3
genes might confer susceptibility.
Proteases and Human Disorders
Authors: Kato Gregory J
Published: September 2006

Cells use proteases to cleave proteins to accomplish a variety of specific functions, particularly activation or inactivation of the target protein. Mutations resulting in altered proteolysis are implicated in a growing list of human diseases.
Human Genome Diversity Project (HGDP): Impact on Indigenous Communities
Authors: Marks Jonathan
Published: September 2006

The study of genetic variation in the human species cannot be undertaken outside the cultural, political and historical context within which scientific research has been traditionally conducted on indigenous peoples. Consideration of their rights may render the Human Genome Diversity Project, as originally articulated, intractable.
ELSI
Research Program of the National Human Genome Research Institute (
NHGRI
)
Authors: Boyer Joy T , McEwen Jean E , Thomson Elizabeth J
Published: September 2006

The US Ethical, Legal and Social Implications Research Program of the National Human Genome Research Institute of the National Institutes of Health was created in 1990 to anticipate and address the implications of human genome research for individuals, families and society.
Privacy and Genetic Information
Authors: English Veronica , Sommerville Ann
Published: September 2006

To what extent can genetic information be considered private and personal? What obligations and duties do we owe to those with whom we have close family and personal ties?
DNA Fingerprinting, Paternity Testing and Relationship (Immigration) Analysis
Authors: Debenham Paul G
Published: September 2006

The application of DNA analysis to unravel an individual's parentage is now over 15 years old. The techniques have evolved and the applications expanded as the interest in defining relationships continues to grow.
Genetic Factors in Life Insurance: Actuarial Basis
Authors: MacDonald Angus S
Published: September 2006

Insurance risk assessment is based on probabilistic models of the the timing and/or severity of the event insured against. In the presence of genetic risk factors, the problem is similar to estimating age‐related penetrance and survival rates. There are no data from insurers' past experience; all studies rely on the medical literature. Very little research has been done, but multifactorial disorders may tentatively be concluded to have little relevance for life insurance.
Human Cloning: Arguments for
Authors: McCarthy David
Published: September 2006

There is a case to be made for the claim that human reproductive cloning is morally acceptable.
Human Cloning: Arguments Against
Authors: Eisenberg Leon
Published: September 2006

The current debate about the ethics of cloning human beings rests on the premise that, as an adult, the clone would be identical to its progenitor. The significant role of gene–environment interactions in the production of the phenotype makes this proposition entirely untenable.
Gene‐to‐behavior Pathways
Authors: Goldsmith H Hill
Published: September 2006

The ‘gene‐to‐behavior' pathway is a concept meant to counter overly deterministic ways of thinking about the effects of genes on behavior. Gene‐to‐behavior pathways incorporate mechanisms of gene action, endophenotypes and variable behavioral expression, as well as notions of the complexity of biological systems.
Gene Expression Databases
Authors: Brazma Alvis , Sarkans Ugis
Published: September 2006

Gene expression databases store information about the absolute or relative abundance of gene transcription products in biological samples, such as cells from a tissue in a particular organism or from a cell line. These databases allow one to access, select, retrieve and combine for analysis gene expression data sets generated by many laboratories.
Global Alignment
Authors: Meidanis Joao
Published: September 2006

Global alignment is a means of showing the similarities and differences of two or more sequences, compared along their entire length.
Smith–Waterman Algorithm
Authors: Mott Richard
Published: September 2006

The Smith–Waterman algorithm is a computer algorithm that finds regions of local similarity between DNA or protein sequences.
RNA
Secondary Structure Prediction
Authors: Hofacker Ivo L
Published: September 2006

Functional RNA molecules tend to fold into evolutionarily well‐conserved structures. On the level of secondary structures, such folding can be predicted by a variety of algorithms from the nucleotide sequence. The predicted structures can help to identify and compare functional RNAs.
Protein Targeting
Authors: Brown Dennis
Published: September 2006

Protein sorting is the process by which cellular proteins, both newly synthesized and recycling, are directed to the appropriate intracellular compartments in which they will perform their function. This process relies upon the targeting signals that are found within each protein. These specific signals direct the interaction of proteins with a multitude of accessory ‘targeting and trafficking’ factors to ensure the correct delivery of the proteins to their appropriate destinations within each cell.
Long Interspersed Nuclear Elements (LINEs): Evolution
Authors: Furano Anthony V , Boissinot Stéphane
Published: September 2006

Long interspersed nuclear element 1 (LINE‐1) repeated DNA elements replicate by copying (reverse transcribing) their RNA transcript into DNA, which then becomes integrated into the genome. These elements lack long terminal repeats and are thus called non‐LTR retrotransposons. LINE‐1 elements constitute the main family of retrotransposons in mammals, where they have been replicating and evolving since before the mammalian radiation about 100 million years ago.
Molecular Genetics
Authors: Dear Paul H
Published: September 2006

Molecular genetics is the study and manipulation of genetic material at a molecular level. It is intermediate in scale between biochemistry and cell biology, and (in contrast to genomics) often focuses on specific deoxyribonucleic acid sequences, proteins and interactions rather than on global surveys of complete genomes.
Recombinant DNA
Authors: Dear Paul H
Published: September 2006

Recombinant deoxyribonucleic acid (DNA) is that which has been created by cutting and joining naturally occurring or synthetic DNA, producing molecules unlike those seen in nature. Recombinant molecules are most commonly made as a means of propagating an isolated fragment of DNA in bacteria, to obtain large amounts of the fragment for sequencing or other purposes.
Gel Electrophoresis
Authors: Westermeier Reiner
Published: September 2006

Nucleic acids are separated and displayed using various modifications of gel electrophoresis and detection methods. Gel electrophoresis is the core technique for genetic analysis and purification of nucleic acids for further studies. Gel electrophoretic methods provide the highest resolution of all protein separation techniques.
Polymerase Chain Reaction (PCR)
Authors: Winter Paul C
Published: September 2006

The polymerase chain reaction is a technique that allows DNA molecules of interest (usually gene sequences) to be copied in a simple enzyme reaction producing a sufficient quantity of the copied DNA for detailed analysis or manipulation. The method is a basic tool in molecular biology with widespread applications in biological and medical research.
Sequence‐tagged Site (STS)
Authors: Dear Paul H
Published: September 2006

A sequence‐tagged site is simply a short segment of known deoxyribonucleic acid sequence. Generally, it is one for which polymerase chain reaction (PCR) primers have been designed to allow it to be amplified using the PCR.
HAPPY Mapping
Authors: Dear Paul H
Published: September 2006

HAPPY mapping is a versatile
in vitro
method for making genome maps. Genomic deoxyribonucleic acid (DNA) is broken randomly and diluted to the point where samples contain only a few molecules. If two sequences (‘markers’) are then found together in the same sample, this implies that they are on the same DNA fragment and therefore adjacent in the genome.
Representational Difference Analysis
Authors: Groot Peter C , van Oost Bernard A
Published: September 2006

Representational difference analysis (RDA) is a highly sensitive technique for the identification of differences between complex deoxyribonucleic acid samples. RDA is based on polymerase chain reaction amplification in combination with multiple rounds of subtractive hybridization and can be used for the identification of unknown pathogens, genetic lesions in cancer and polymorphic markers linked to a trait without the use of a preexisting map, as well as for the identification of differentially expressed genes.
Relatives‐based Nonparametric Analysis of Linkage
Authors: Gray‐McGuire Courtney , Olson Jane M
Published: September 2006

Some linkage methods do not depend on prior specification of a model of inheritance for the trait of interest. Based on identity‐by‐descent allele sharing information on pairs or sets of related individuals, these methods can be used to assess linkage to both qualitative and quantitative traits.
Homozygosity Mapping
Authors: Génin Emanuelle , Todorov Alexandre A
Published: September 2006

Homozygosity mapping is an efficient gene mapping method applicable to rare recessive disorders in inbred populations.
Linkage Disequilibrium
Authors: Croucher Peter JP
Published: September 2006

When two or more polymorphic loci are studied in a population, the interaction between the loci is often expressed in terms of linkage disequilibrium (LD). The loci are in LD if their respective alleles do not associate independently. The degree of over‐ or underrepresentation of the expected haplotypes measures the extent of LD. Recombination acts to reduce LD.
Relatives‐based Test for Linkage Disequilibrium: The Transmission/Disequilibrium Test (TDT)
Authors: Spielman Richard S , Ewens Warren J
Published: September 2006

Genes that contribute to complex genetic diseases can sometimes be identified by studies that show genetic linkage, or association, with marker genes. The transmission/disequilibrium test is a procedure that tests for the simultaneous presence of these two genetic phenomena.
Genetic Risk: Computation
Authors: Grimm Tiemo , Müller‐Myhsok Bertram
Published: September 2006

Risk calculation using Bayes' theorem can be carried out where a condition or disease is controlled by Mendelian inheritance. Choice of the appropriate genetic model is important for correct results.
Statistical Methods in Physical Mapping
Authors: Schbath Sophie
Published: September 2006

Statistical methods are used to predict the progress of a physical mapping project in terms of the number and size of the contigs and the proportion of genome covered by contigs.
Population Genetics: Historical Aspects
Authors: Chakraborty Ranajit
Published: September 2006

Understanding the extent of genetic variation among individuals within as well as across populations is the main objective of population genetic studies. The principles of population genetics have had a major role in studying evolutionary changes of genetic variation and in developing methods for gene discovery using genetic markers to evaluate disease risk in individuals.
Genetic Drift
Authors: Bohonak Andrew J
Published: September 2006

Genetic drift consists of changes in allele frequencies due to sampling error. Even if all individuals in a population have the same opportunities to mate, their reproductive contributions to the next generation will vary due to random chance alone. In any population of finite size, this sampling error will cause gene frequencies to fluctuate from generation to generation. Genetic changes due to drift are neither directional nor predictable in any deterministic way. Nonetheless, genetic drift leads to evolutionary change even in the absence of mutation, natural selection or gene flow.
Genetic Load
Authors: Hastings Ian M
Published: September 2006

A genome never reaches its perfect, optimal state: the shortfall between its current state and its theoretical optimum is called the organism's ‘genetic load’. This load is primarily attributed to mutations, and to sexual recombination breaking apart beneficial combinations of genes.
Group Selection
Authors: Dugatkin Lee Alan
Published: September 2006

Group selection refers to the process of natural selection at the level of the group. Groups are collections of individuals that affect each other's fitness. Group selection partitions the effect of selection into ‘within‐group’ and ‘between‐group’ components. When between‐group selection is strong relative to within‐group selection, highly altruistic behaviors may evolve.
Migration
Authors: Barbujani Guido
Published: September 2006

Migration is the movement of individuals in geographic space. When that movement has genetic consequences, migration determines gene flow. By introducing new genes where they were previously absent, migration increases genetic diversity within populations and reduces the differences among them. As a rule, groups that dwell close to each other tend to exchange more migrants than distant or isolated groups. But there are exceptions, especially during demographic expansions and when the populations are subdivided by geographic or cultural barriers. Rates and patterns of migration can be reconstructed from the analysis of genetic data.
Coalescent Theory
Authors: Tavaré Simon
Published: September 2006

Coalescent theory is a very useful tool in the interpretation of genomic variation data.
Mutation Nomenclature
Authors: den Dunnen Johan T
Published: September 2006

A codified nomenclature system is required by medical geneticists to describe changes (mutations) in the sequence of deoxyribonucleic acid, ribonucleic acid and protein.
Uniparental Disomy
Authors: Schinzel Albert , Baumer Alessandra
Published: September 2006

The inheritance of both homologs of one pair of chromosomes from the same parent causes abnormal development if it leads to loss of the active allele of an imprinted (parent of origin specific) gene or genes or reduction to homozygosity of segments containing mutated recessive genes.
Allelic and Locus Heterogeneity
Authors: Scriver Charles R
Published: September 2006

‘Allelic heterogeneity’ implies that different alleles in the same gene can cause a similar variant phenotype. Genetic or ‘locus (nonallelic) heterogeneity’ implies that mutation in different genes may explain one variant phenotype. When simultaneous expression of mutations in different genes is necessary the phenotype is said to reflect digenic or oligogenic inheritance
Disease‐related Genes: Identification
Authors: Banfi Sandro , Ballabio Andrea
Published: September 2006

The identification of a disease gene is a crucial step in the development of diagnostic procedures and in the understanding of the pathogenetic mechanisms underlying the disease. Strategies for the identification of genes involved in the pathogenesis of human disease can involve either those used in the presence of known loci (mainly positional candidate genes) or those used when the locus is unknown (functional cloning and candidate genes).
Medical Genetics: History
Authors: Vogel Friedrich
Published: September 2006

Some notion of the rules of heredity in humans has existed for more than 2000 years; however, genetics as a true science was founded only in the second half of the nineteenth century, and has undergone recent rapid development. This knowledge is being increasingly used in medicine.
Gain‐of‐function Mutations in Human Genetic Disorders
Authors: Weinstein Lee S
Published: September 2006

Gain‐of‐function (activating) mutations alter the amino acid sequence of gene protein products, generating proteins that have increased constitutive activity even in the absence of physiological activators or that are insensitive to negative regulation. Many of these mutations affect signaling molecules, leading to disorders resulting from constitutive activation of hormonal and other signaling pathways.
Retrotransposition and Human Disorders
Authors: Ostertag Eric M , Kazazian Haig H
Published: September 2006

Retrotransposition is a ‘copy‐and‐paste’ mechanism whereby a retrotransposable element is copied from one genomic location and inserted into another genomic location, using a ribonucleic acid intermediate.
Repetitive Elements and Human Disorders
Authors: El‐Sawy Mohammed , Deininger Prescott
Published: September 2006

Repetitive elements comprise over 50% of the mammalian genome, the majority of these being made up of mobile elements. Although most of the mobile elements are inactive, a number are still actively amplifying. This results in a significant level of insertional mutagenesis. Mobile elements contribute even more to aberrant recombination events that produce germ‐line mutations, as well as probably playing a major role in genetic instability in cancer. Other repetitive elements, such as chromosomal duplications and microsatellites (particularly triplet repeats), also lead to genetic damage.
RNA Editing and Human Disorders
Authors: Gott Jonatha M
Published: September 2006

Small, targeted changes at the ribonucleic acid level can have profound effects on gene expression. Such programmed alterations can be controlled in a tissue‐specific or developmentally regulated fashion, providing an alternative means of augmenting the information encoded within the genome.
Genomic and Chromosomal Instability
Authors: Guo Haiwei H , Davidson John F , Loeb Lawrence A
Published: September 2006

The multiplicity of mutations found in human cancers reflects the consequences of breakdown in genome maintenance and helps to provide insight into the origins of malignancy.
Transcription Factors and Human Disorders
Authors: Semenza Gregg L
Published: September 2006

Transcription factors play a major role in the regulation of gene expression which underlies human development, physiology and pathophysiology. Germ‐line mutations in genes encoding transcription factors are responsible for a large number of congenital malformation syndromes. Somatic mutations in these genes also play important roles in the pathogenesis of cancer.
Infectious Diseases: Predisposition
Authors: Burgner David , Levin Michael
Published: September 2006

There is increasing evidence of genetic predisposition to both susceptibility and outcome in human infection. Examples from animal studies, single‐gene immunological defects and polygenic disorders have identified fundamental processes in infectious diseases and are likely to revolutionize the approach to both prevention and treatment of infection.
Apoptosis: Disorders
Authors: Puck Jennifer M
Published: September 2006

Apoptosis is an orderly physiological process of programmed cell death widely used in the body for remodeling organs during growth and development and for eliminating cells that are no longer needed or that are a threat to the organism.
Thalassemias
Authors: Weatherall David
Published: September 2006

The thalassemias are the commonest genetic disorders in humans and present an increasing public health problem in the tropical countries in which they occur at a high frequency.
Factor V Leiden
Authors: Dahlbäck Björn
Published: September 2006

Factor V (FV) Leiden is the most common genetic risk factor for venous thrombosis. It is caused by a single point mutation in the factor V gene (
F5
), which results in the replacement of arginine at position 506 with a glutamine. Arginine 506 constitutes one of three cleavage sites for activated protein C (APC) and FV Leiden is resistant to APC cleavage at this site. The FV Leiden mutation is estimated to have occurred around 30000 years ago in a Caucasian ancestor.
Trisomy
Authors: Vekemans Michel
Published: September 2006

Human trisomy is a leading cause of fetal wastage, perinatal and infant mortality, congenital malformation and mental retardation.
Leukemias and Lymphomas: Genetics
Authors: Look A Thomas , Ferrando Adolfo A
Published: September 2006

Leukemias and lymphomas are some of the best‐understood cancers at the molecular level. Genes involved in the pathogenesis of these diseases exemplify some of the primary mechanisms that contribute to human cancer.
Pharmacogenetics and Pharmacogenomics
Authors: Nebert Daniel W
Published: September 2006

Since we all differ from one another by at least 1 million bases out of the 3.2 billion bases in our genome, each of us might have variant alleles in most of our genes that affect drug absorption, transporters, channels, receptors, metabolism, signaling pathways and excretion. With knowledge of the variant alleles that cause interindividual variations in response to pharmaceutical agents, pharmacogenomics aims to provide new strategies for optimizing drug therapy based on each patient's genetic determinants of drug efficacy and toxicity.
Presymptomatic Diagnosis
Authors: Schmidtke Jörg
Published: September 2006

Presymptomatic diagnosis implies the discovery of indications of future disease. In order to allow patients to weigh up the benefits and the risks of the medical, psychological and social implications of possible future disease, presymptomatic diagnosis should be a part of genetic counseling.
DNA Chips and Microarrays
Authors: Orntoft Torben F , Kruhøffer Mogens
Published: September 2006

Parallel analyses of thousands of molecules based on hybridization to nucleotides are carried out on microarrays. The large amount of data generated from scanning such arrays needs bioinformatic handling in the form of noise filtering, calibration and normalization to be ready for experimental comparison with other arrays. This may provide insight into regulatory pathways and lead to reclassification of diseases.
Protein: Cotranslational and Posttranslational Modification in Organelles
Authors: Brooks Doug A
Published: September 2006

Polypeptides can be modified either during or after their synthesis has been completed. These modifications are referred to as protein‐processing events.
Adeno‐associated Viral Vectors in Gene Therapy
Authors: Srivastava Arun
Published: September 2006

Recombinant vectors based on a nonpathogenic human parvovirus, the
adeno‐associated virus 2
AAV, have gained attention as a potentially safe and useful alternative to the more commonly used retroviral and adenoviral vectors. AAV vectors are currently in use in Phase I/II clinical trials for gene therapy of cystic fibrosis and hemophilia B. Several salient features of AAV vectors and the availability of promising results with animal models of human diseases provide the impetus to suggest that they will be used in potential gene therapy of a number of human diseases, both genetic and acquired, in not too distant a future.
Herpes Simplex Viral
Vectors in Gene Therapy
Authors: Fink David J , Glorioso Joseph C
Published: September 2006

Herpes simplex virus
(HSV) is a human pathogen that naturally establishes a life‐long latent infection of human peripheral sensory neurons. Genetically modified recombinant HSV vectors have been constructed that are incapable of replication, but nonetheless efficiently infect and establish a latent‐like state in neurons
in vitro
and
in vivo
without the ability to reactivate. These vectors can be used to transfer and express genes in the nervous system using natural expression mechanisms already present in the virus genome. These products are designed to modify the structure and/or function of neuronal elements, and represent a novel therapeutic strategy for diseases of the nervous system.
Synthetic Gene Delivery Systems in Gene Therapy
Authors: Miller Andrew David
Published: September 2006

Synthetic gene delivery systems are agents prepared using synthetic organic chemistry and/or molecular biology expertise for the delivery of therapeutic genes to cells
in vitro
,
ex vivo
and
in vivo
. Liposomes/micelles and/or soluble polymers form the basis of most known synthetic systems.
Expression Targeting in Gene Therapy
Authors: Vassaux George , Leverton Kate E
Published: September 2006

Expression targeting involves the use of tissue‐specific enhancer/promoter elements to target the expression of therapeutic transgenes to tissues of interest. With the development of
in vivo
delivery vectors, these selective expression cassettes can now be used for preclinical assessment of their therapeutic potential for the treatment of inherited diseases or cancers.
Immunodeficiency Syndromes: Gene Therapy
Authors: Fischer Alain
Published: September 2006

Gene therapy can potentially offer a mean, to correct the immunodeficiences provoked by a number of inherited monogenic diseases. There have recently been successful clinical trials of such treatment.
Autoimmune Diseases: Gene Therapy
Authors: Costa Gina L , Benson Jacqueline M , Fathman C Garrison
Published: September 2006

Gene therapy is a method of repairing or altering gene expression that can be used to correct inappropriate immune responses that occur in autoimmune disease. The efficacy of this approach can be successfully tested in animal models of autoimmune disease prior to application for human autoimmune disease.
Neural Stem Cells
Authors: Behrstock Soshana , Svendsen Clive
Published: September 2006

Neural stem cells (NSCs) may teach us about how cell fate choices are made and which genes regulate these choices. In addition, NSCs might be a source of tissue for cell therapy. Studies focusing on the mechanisms of NSC growth and differentiation suggest they may be more plastic than had been anticipated.
Chromosomes and Chromatin
Authors: Nye Anne C , Rajendran Ramji R , Belmont Andrew S
Published: September 2006

DNA, the hereditary material of the cell, is folded into protein‐containing fibers in the nucleus of eukaryotes. The structure and location of these fibers is thought to be important in determining whether molecular machines can access the DNA for important cellular processes such as gene activation.
Mitosis: Chromosome Segregation and Stability
Authors: Michel Loren , Benezra Robert
Published: September 2006

Mammalian cells are charged with the task of evenly distributing 46 chromosomes to each of two daughter cells during every mitotic cell cycle. Abnormal function of any one of the numerous genes involved in this process can result in the aberrant transmission of chromosomes from the parental cell to its progeny.
X‐chromosome Inactivation
Authors: Wakefield Matthew J , Graves Jennifer AM
Published: September 2006

X‐chromosome inactivation is the epigenetic silencing of one of the two X chromosomes in female mammals that equalizes dosage of X‐linked genes between males and females.
Chromosome 1
Authors: White Peter S , Matise Tara C
Published: September 2006

Human chromosome 1 is the largest human chromosome. This metacentric chromosome, which contains ∼9% of the genetic material in the genome, is characterized by several gene clusters including those encoding 5S‐RNAs and snRNAs.
Chromosome 2
Authors: Hildebrandt Friedhelm
Published: September 2006

Human Chromosome 2 is the second largest human chromosome. This submetacentric chromosome, which contains ∼8% of the genetic material in the genome, originated from a telomere–telomere fusion during hominoid evolution. It is characterized by a number of gene clusters including homeobox D and immunoglobulin kappa light chain.
Chromosome 5
Authors: Cheng Jan‐Fang
Published: September 2006

Human chromosome 5 is a submetacentric chromosome containing some 6% of the genetic material in the genome. It is characterized by many gene clusters including those encoding interleukins, protocadherins and complement proteins.
Chromosome 13
Authors: Dunham Andrew
Published: September 2006

Human chromosome 13 is an acrocentric chromosome that contains 3.6% of the genetic material in the genome. It contains a rRNA gene cluster but appears to be relatively gene‐poor.
Chromosome 18
Authors: van Kessel Ad Geurts , Silverman Gary
Published: September 2006

Human chromosome 18 is a submetacentric chromosome containing 2–6% of the genetic material in the genome. It is relatively gene poor.
Chromosome 19
Authors: Olsen Anne S
Published: September 2006

Human chromosome 19 is a metacentric chromosome that contains 1.9% of the genetic material in the genome. It has the highest G+C content of all the chromosomes and also the highest content, relative to size, of repetitive sequences, CpG islands and genes. It is characterized by gene clusters including cytochrome P‐450, olfactory receptors and Kruppel‐like zinc finger proteins.
Integrins
Authors: Lam Stephen C‐T , Loftus Joseph C
Published: September 2006

Integrins are transmembrane αβ heterodimeric receptor complexes involved in diverse pathophysiological processes by mediating cell adhesion and migration. Integrin–ligand interaction and postligand binding functions of integrins are regulated by intracellular signaling mechanisms.
Biomolecular Sequence Analysis: Pattern Acquisition and Frequency Counts
Authors: Konopka Andrzej K
Published: September 2006

Nucleic acid and protein sequence analysis draws on methods for studying the morphology of printed texts in letter‐based writing systems. In particular, it explores the art of frequency counts of contiguous and noncontiguous patterns.
Systems Biology: Genomics Aspects
Authors: Konopka Andrzej K
Published: September 2006

Systems biology is concerned with functionally complex systems (such as an organism, immune system or ecosystem) that can be approximately described by several complementary models but cannot be adequately represented by a single model. It addresses foundational issues of ‘entire’ biology (such as system modeling, fractionation, integration and emergence) but it is also devoted to specific techniques for data integration and interpretation. This brings systems biology right in the middle of the old controversy between reductionism and holism.
Basepair (bp)
Authors: Dear Paul H
Published: September 2006

A basepair is a single subunit of double‐stranded nucleic acid, consisting of two complementary nucleotides linked by hydrogen bonds.
Clustering of Highly Expressed Genes in the Human Genome
Authors: Versteeg Rogier
Published: September 2006

The Human Genome Project has identified a large proportion of human genes and their chromosomal positions, and high‐throughput technologies have been developed to measure the activity of all genes in tissues or cell lines. In the human transcriptome map, these two developments are integrated to establish a genome‐wide expression profile, in turn suggesting an unexpected higher‐order organization of the human genome.
Severe Combined Immune Deficiency (SCID): Genetics
Authors: Fischer A
Published: September 2006

Severe combined immunodeficiency consists of an array of genetically determined blocks in T lymphocyte development. Characterization of genetic defects contributes to a better understanding of lymphocyte differentiation pathways.
Comparative Genomic Hybridization in the Study of Human Disease
Authors: Pinkel Daniel , Albertson Donna
Published: September 2006

Alterations in DNA copy number are frequently involved in developmental abnormalities and cancer. Microarray‐based comparative genomic hybridization can detect and map these alterations with high resolution throughout the genome.
Microarray Bioinformatics
Authors: Stubbs Andrew , van der Spek Peter J
Published: September 2006

Bioinformatics covers the application of computational tools for expanding the use of biological, medical or health‐related data. This includes tools to handle, acquire, store, organize, archive, analyze or visualize data.
Human Genome Variation Society
Authors: Cotton RGH , Horaitis O
Published: September 2006

Establishing a collection of DNA mutations in genes, especially those that cause single‐gene disorders (mutations), is challenging because there may be tens of millions of them. The Human Genome Variation Society was formed to promote this activity.
Promoter Haplotypes and Gene Expression
Authors: Joosten Paulus HLJ
Published: September 2006

There is an estimated 0.1% difference between any two human genomes. The differences occur predominantly outside protein‐coding regions and result in, for example, different promoter haplotypes. The generation of a high‐resolution human genomic sequence will allow us to investigate the role of genetic variance in common diseases, which tend to be multifactorial with a non‐Mendelian inheritance.
Trans Splicing
Authors: Furuyama Suzanne , Bruzik James P
Published: September 2006

Exon sequences are normally tethered through introns, which are then spliced out to generate mRNA. In
trans
‐splicing, the exons are not linked together, which raises issues concerning how the two splice sites are juxtaposed for splicing to occur.
Nucleolus: Structure and Function
Authors: Olson Mark OJ
Published: September 2006

The nucleolus is the nuclear subdomain that assembles ribosomal subunits in eukaryotic cells. Steps in assembly include transcription, modification and cleavage of preribosomal RNA and incorporation of ribosomal proteins and 5S ribosomal RNA into maturing preribosomal complexes.
Nucleolar Dominance
Authors: Pikaard Craig S
Published: September 2006

Nucleolar dominance is an epigenetic phenomenon in plant and animal hybrids that describes the failure to form nucleoli, the sites of ribosome synthesis, on chromosomes inherited from one parent. The molecular basis for nucleolar dominance is the reversible silencing of ribosomal RNA genes transcribed by RNA polymerase I. These genes are clustered at loci spanning millions of base pairs, making nucleolar dominance one of the most extensive known chromosomal‐silencing phenomena.
m
RNA
Localization: Mechanisms
Authors: Mohr Evita , Richter Dietmar
Published: September 2006

Sorting of messenger ribonucleic acids to distinct subcellular microdomains and their local translation is an important mechanism by which cell polarity is created and maintained.
Gene Targeting by Homologous Recombination
Authors: Wilson John H , Vasquez Karen M
Published: September 2006

Homologous recombination involves the exchange of DNA molecules in regions of homology by a crossover event. Homologous recombination provides a mechanism for targeting defined modifications into genes of interest.
Skeletogenesis: Genetics
Authors: Hogendoorn Pancras CW , Bovée Judith VMG , Karperien Marcel , Cleton‐Jansen Anne‐Marie
Published: September 2006

Skeletogenesis is a tightly regulated process during fetal, postnatal and pubertal growth, finely orchestrated by transcription factors and consecutive signaling pathways and controlled by delicate feedback loops. There is an increasing awareness of the role of these processes during tumorigenesis of primary bone tumors.
Color Vision Defects
Authors: Neitz Maureen , Neitz Jay
Published: September 2006

Color blind individuals see many fewer colors than do people with normal color vision. Among color blind people there is tremendous variation in the capacity for color vision, ranging from no color vision to nearly normal color vision.
Attention Deficit–Hyperactivity Disorder (ADHD)
Authors: Todd Richard D
Published: September 2006

Attention deficit–hyperactivity disorder (ADHD) comprises a common and highly heritable group of syndromes with childhood onset that are characterized by impairments in attention span, impulse control and/or activity level. Neurobehavioral, imaging, treatment and candidate gene studies are most consistent with the clinical symptoms of ADHD being caused by abnormalities of the ventral projections of catecholamine pathways in the brain.
Muscular Dystrophies
Authors: Bushby Kate
Published: September 2006

The identification of the many genes involved in producing a muscular dystrophy phenotype has highlighted the complex molecular pathology of this group of diseases. Genetic and phenotypic heterogeneity is the norm, with mutations now described in proteins involved in many areas of key function in skeletal muscle, including proteins of the muscle fiber membrane, extracellular matrix, nuclear envelope and sarcomere.
Histone Acetylation and Disease
Authors: Harel‐Bellan Annick , Guasconi Valentina , Fritsch Lauriane , Sekhri Redha , Lehrmann Heike , Ait‐Si‐Ali Slimane
Published: September 2006

Acetylation of nucleosomal core histones plays a key regulatory role in many physiological processes such as proliferation and differentiation. Aberrant acetylation or deacetylation of histones leads to severe human diseases such as leukemia, epithelial cancers, fragile X‐syndrome and Rubinstein–Taybi syndrome.
Proteins: Mutational Effects in
Authors: Lesk Arthur M
Published: September 2006

Mutations in the DNA sequence can have profound effects on the structure of proteins and on organismal function.
Pancreatic Cancer
Authors: Sakorafas George H
Published: September 2006

Knowledge of the molecular biology of pancreatic cancer has grown rapidly. Genetic alterations in pancreatic cancer include oncogene mutations (most commonly
KRAS2
mutations) and tumor suppressor gene alterations (mainly
TP53
,
CDKN2A
,
DCC
, etc.). The advances may have clinical implications in the management of patients with pancreatic cancer (diagnosis, therapy, prognosis).
Albinism: Genetics
Authors: Oetting William S
Published: September 2006

Albinism has classically been described as the complete absence of pigment throughout the life of the affected individual. Modern molecular analysis has shown that albinism is a much more complex genetic disorder than previously thought, involving many genes with an array of functions as well as great variation in the phenotype of affected individuals.
Multidrug Resistance in Cancer: Genetics of ABC Transporters
Authors: Ishikawa Toshihisa
Published: September 2006

Multidrug resistance in human cancer is the major obstacle to long‐term, sustained response of a patient to chemotherapy. It has been convincingly documented that several adenosine triphosphate‐binding cassette transporters cause multidrug resistance in cancer cells by actively extruding the clinically administered chemotherapeutic drugs.
Myeloproliferative Diseases: Molecular Genetics
Authors: Albitar Maher
Published: September 2006

Chronic myeloproliferative disorders (MPDs) are characterized by clonal proliferation of differentiated myeloid cells. This uncontrolled proliferation manifests itself in an increase in maturing granulocytes, erythrocytes, platelets, eosinophils or basophils, or a combination of these cells.
Lesch–Nyhan Disease
Authors: Visser JE , Jinnah HA
Published: September 2006

Lesch–Nyhan disease is caused by an inherited deficiency of the purine salvage enzyme hypoxanthine guanine phosphoribosyltransferase. Affected individuals display hyperuricemia and specific neurobehavioral features, including a hyperkinetic movement disorder, behavioral disturbances and self‐injurious behavior, which are thought to be attributable to dysfunction of the basal ganglia dopamine system.
Nuclear Receptor Genes
Authors: Laudet Vincent
Published: September 2006

Nuclear receptors are ligand‐dependant transcription factors that can directly regulate target genes in response to hormonal ligands, such as steroids, retinoic acid or thyroid hormones. They form a superfamily of genes that have a complex organization with most often alternative promoters, alternative splicing and autoregulation mechanisms. These genes are dispersed in metazoan genomes and their number varies widely from one genome to another (from 21 inDrosophilato about 270 in nematodes).
DNA Methylation in Development
Authors: Turker Mitchell S
Published: September 2006

Marked changes in DNA methylation occur during embryonic development to convert gamete‐specific methylation patterns to the patterns required in the soma.
DNA Methylation: Enzymology
Authors: Szyf Moshe
Published: September 2006

In vertebrates, the dinucleotide sequence CG is methylated. The DNA methylation reaction is catalyzed by DNA methyltransferases, which use
S
‐adenosyl‐methionine as the methyl donor. In addition to DNA methyltransferases, chromatin modifying and remodeling proteins are involved in creating and replicating DNA methylation patterns. Data suggest that demethylases, enzymes that remove methyl groups from DNA, are involved in shaping DNA methylation patterns.
DNA Demethylation
Authors: Wade Paul A
Published: September 2006

The enzymatic modification of deoxyribonucleic acid (DNA) by demethylation of cytosine residues has been observed in several biological systems. The mechanism of DNA demethylation and the enzymes responsible for it remain obscure.
Transcriptomics and Proteomics: Integration?
Authors: Honoré Bent , Østergaard Morten
Published: September 2006

The genes are transcribed to pre‐messenger RNA, further processed to messenger RNA (transcripts), and finally translated into protein. The transcriptome constitutes the complete set of different transcripts that is synthesized in the lifetime of a cell or a tissue. The proteome refers to the complete set of proteins that is expressed, and modified following expression in the lifetime of a cell or a given tissue. Transcriptomics refers to the study of the transcriptome, while proteomics refers to the study of the proteome using large‐scale technologies for transcript or protein analyses. The two disciplines each provide unique information and supplement each other.