bluuebunny/crossref_metadata_2025 huggingface dataset:
Forensic Genetics
Authors: Davis Christie T
Published: October 2007

The primary objective in forensic deoxyribonucleic acid DNA is to develop a useable genetic profile from a piece of evidence to compare with profiles obtained from reference samples from known individuals for the purpose of exclusion.
Gene Expression: Frameshifting
Authors: Atkins John F , Gesteland Raymond F
Published: October 2007

Ribosomes shift reading frames at high levels at specific places in the decoding of a minority of messenger ribonucleic acid (RNA)s in probably all organisms. This frameshifting serves a regulatory function or is used to synthesize more than one product from a coding sequence.
Sea Urchin Embryo: Specification of Cell Fate
Authors: Angerer Robert C , Angerer Lynne M
Published: October 2007

Specification of cell fate in sea urchin embryos involves initial asymmetric distribution of maternal molecules that establish vegetal and nonvegetal domains of transcription activity. Subsequently, fates of most blastomeres are regulated by cell–cell interactions involving signalling ligands and cell surface receptors.
Brachiopoda
Authors: Cohen Bernard L
Published: October 2007

A phylum of predominantly sessile, filter‐feeding marine invertebrates, with a ciliated, tentaculate feeding organ or lophophore and a bivalved shell. The two main living types (with either articulated or inarticulated valves) first appeared in the Lower Cambrian. Articulated forms give the phylum its common name: ‘lamp shells’. In recent molecular analyses, brachiopods and phoronids form a single clade.
Plant Golgi Apparatus
Authors: Hawes Chris , Satiat‐Jeunemaitre Béatrice
Published: October 2007

The plant Golgi apparatus exists as a number of discrete units known as Golgi bodies distributed in the cytoplasm. Its primary roles are the glycosylation of secretory proteins, the construction of complex cell wall polysaccharides and the packaging and targeting of such products either to the vacuole or to the cell surface.
Plant Mitochondria
Authors: Rose Ray J , McCurdy David W , Sheahan Michael B
Published: October 2007

Plant mitochondria, like those of other eukaryotes, use an electron transport chain to pump protons and generate adenosine triphosphate (ATP). However, plant mitochondria possess some special features, including a nuclear‐encoded and stress‐inducible alternate oxidase that limits proton pumping. A balance of fusion and fission controls the morphology and number of plant mitochondria and is important for functionality and inheritance of their multipartite genome. The mitochondrial genome is an important determinant of male fertility.
Plant Programmed Cell Death
Authors: Lam Eric
Published: October 2007

Programmed cell death (PCD) in higher plants is observed throughout their development and in pathogenic infection. There is evidence of some mechanistic and morphological similarities to cell death in animals but many fundamental questions related to plant PCD remain to be answered.
Plant Cell Differentiation
Authors: Hülskamp Martin , Uhrig Joachim
Published: October 2007

During plant cell development cells become specialized for a particular function. This process is called plant cell differentiation.
Coevolution: Plant–Insect
Authors: Whitney Heather M , Glover Beverley J
Published: October 2007

Coevolution between plants and insect is a relatively frequent phenomenon, in part because of the enormous species diversity of both groups. It is often diffuse, resulting in variability and radiation, and is presumed to result in unstable relationships. Coevolutionary relationships mainly occur between plants and herbivorous insects and between plants and pollinating insects.
Plant Nuclear Genome Composition
Authors: Heslop‐Harrison JS (Pat) , Schmidt Thomas
Published: October 2007

The plant nuclear genome consists of DNA divided among the chromosomes within the cell nucleus. Plant genomes contain coding and regulatory sequences for the genes and repetitive DNA. Genomes are evolutionarily dynamic and analysis provides insights into the evolution of genes, sequence families and genomes, and supports studies of species phylogeny and relationships.
Bacillus subtilisas a Model for Bacterial Systems Biology
Authors: Harwood Colin R
Published: October 2007

Bacillus subtilishas been the subject of intense study for nearly six decades. Initially, the key drivers were: (i) the need of the food industry for a nonpathogenic model bacterium to study the characteristics of endospores, and (ii) the observation, in 1959, thatB. subtilisstrain 168 could be genetically manipulated by transformation. In the intervening period,B. subtilis168 has become second only toEscherichia coliK‐12 in terms of the detail with which aspects of its genetic, biochemistry and physiology is understood. For the foreseeable future,B. subtilisrepresents an eminently tractable model in which to integrate knowledge gained from the reductionist approach to biology towards an understanding of how this bacterium functions as a unitary system. This will require the application of various ‘omics’ (e.g. genomics, transcriptomics, proteomics, metabolomics), the increased application of high‐throughput technologies and system modelling. The ultimate aim of anin silicomodel ofB. subtilisis that it can accurately mimic or predict its behaviour in the environment.
Plant Genetics and Development
Authors: Curtis Mark D , Grossniklaus Ueli
Published: October 2007

Our understanding of nearly all aspects of plant growth and development have benefited from the application of genetic analyses. Early anatomical and physiological studies provided evidence for processes that allow the plant to respond to internal and external stimuli, but genetics has provided the tools to revolutionize our understanding of the underlying mechanisms. The development of new tools in molecular genetics, the adoption of plant model organisms and the creation of databases for comparative gene analyses, have all contributed to the rapid progress in our understanding of plant developmental biology in recent years.
Self‐incompatibility
Authors: Franklin‐Tong Veronica , Franklin Christopher
Published: October 2007

Self‐incompatibility (SI) is a genetically controlled cell–cell recognition system that acts as a barrier to self pollination in a wide range of flowering plant species. Several different SI mechanisms have been identified.
Dormancy in Plants
Authors: Hilhorst Henk WM , Koornneef Maarten
Published: October 2007

Dormancy is a strategy of higher plants to survive adverse conditions. Seed dormancy is controlled by a hormone balance of gibberellins and abscisic acid. Physiological and genetic analysis is revealing the interplay between both hormone signalling pathways.
Floral Meristems
Authors: Schneitz Kay , Balasubramanian Sureshkumar
Published: October 2007

Meristems refer to a group of undifferentiated dividing cells that are responsible for the formation of plant organs. Floral meristems are a group of dividing cells that give rise to flowers. The formation of a floral meristem, and its subsequent fate, are under both environmental and molecular control. Several exogenous environmental factors and a complex network of genes control this process.
Carpels
Authors: Smyth David R
Published: October 2007

Carpels are the female reproductive organs within a flower that enclose the ovules, protecting them and screening out inappropriate pollen. They arose, probably from leaf‐like organs, long after the origin of ovules. Genes controlling key steps in carpel and ovule development are being discovered.
Regulatory Genes in Plant Development: Homeobox
Authors: Chung Kook‐Hyun , Sinha Neelima R
Published: October 2007

The Knotted‐like homeobox (KNOX)genes play a profound role in shoot apical meristem organization, maintenance and leaf initiation.A MYBdomain genePHANTASTICAplays a role in regulating dorsal–ventral polarity in lateral organs and also downregulates a subset ofKNOXgenes.
Tuberculosis
Authors: Davies Peter DO
Published: October 2007

Tuberculosis (TB) is a disease caused by
Mycobacterium tuberculosis
. It normally affects the lungs, causing chronic, progressive symptoms of cough, weight loss and malaise. The disease is normally curable with a six‐month course of appropriate antibiotics.
Septicaemic Shock
Authors: Vincent Jean‐Louis
Published: October 2007

Sepsis is the body's response to invading microbes or their toxins; severe sepsis is sepsis accompanied by sepsis‐related organ dysfunction; and septic shock (the most severe form) is severe sepsis with hypotension that does not respond to fluid resuscitation. Septic shock is common and associated with high mortality and morbidity rates.
Hepatitis as a World Health Problem
Authors: Bain Vincent G , Tandon Puneeta
Published: October 2007

Viral hepatitis is a health problem affecting hundreds of millions of people worldwide. The morbidity and mortality from viral hepatitis is enormous and affects all age groups. Hepatitis A and E are enterically transmitted viruses, which are spontaneously cleared by the host and do not lead to chronic infection. Hepatitis B may be spread vertically, sexually or parenterally whereas hepatitis C is most often acquired parenterally from contaminated blood products (historically) or via the use of intravenous drugs. Both of these infections may lead to chronic hepatitis and cirrhosis with its attendant complications including portal hypertension, liver failure and hepatocellular carcinoma. Hepatitis D can only cause infection together with hepatitis B. It may lead to an aggressive hepatitis as well as chronicity. Although our knowledge of viral genetics, epidemiology and treatment options is increasing, prevention remains the most cost effective method of controlling viral hepatitis.
Roots: Contribution to the Rhizosphere
Authors: Gunawardena Uvini , Zhao Xiaowen , Hawes Martha C
Published: October 2007

Diverse compounds exuded by different parts of the root system create a unique environment known as the rhizosphere. Interactions among microorganisms found within the rhizosphere and communication between these microorganisms and plant roots play an important role in maintaining plant health.
Gene Expression in Plants
Authors: Sablowski Robert WM
Published: October 2007

Changes in gene expression are central to plant development and environmental responses, and to modifying plants for practical use. Gene regulation is similar in plants and other eukaryotes, so most of the methods to study it are also comparable, including the recent emphasis on genome‐wide approaches.
Protein Motifs: the Helix‐Turn‐Helix Motif
Authors: Matthews Brian W
Published: October 2007

The helix‐turn‐helix motif was first observed in the structures of certain proteins that bind to specific regulatory sites on deoxyribonucleic acid (DNA). It is made up of a part of the protein comprising an α‐helix followed by a turn followed by a second α‐helix aligned approximately 120° to the first. When the protein binds to its regulatory site, the second α‐helix of the helix‐turn‐helix occupies one of the grooves on the DNA and is critical in recognizing the correct target.
Chaperonins
Authors: Consalvi Valerio , Chiaraluce Roberta
Published: October 2007

The challenge in protein folding is the production of the native, active conformation from the primary sequence information.
In vivo
, in the cytosolic environment, acquisition of the native conformation is in competition with proteolytic degradation and/or intracellular precipitation. Chaperone proteins assist in finding the native fold, and these key components of the cellular machinery occur ubiquitously through archaea, bacteria and eukarya.
Protein Structure Classification
Authors: Pearl Frances MG , Orengo Christine A , Thornton Janet M
Published: October 2007

To understand and map the universe of protein structures, it is necessary to collate, annotate and classify these structures in a rational scheme. The different approaches that have been taken to tackle this problem include the identification of protein domains, phylogenetic and phenetic classification and hierarchical and nearest‐neighbour clustering. Powerful new sequence searching methods enable structural assignments to be allocated to genomic data.
Haem Proteins
Authors: Roberts Sue A , Montfort William R
Published: October 2007

Haem is used by a wide variety of proteins to carry out dozens of functions and catalyse numerous reactions. The polypeptide chains encasing the haem functional group control the accessibility, reactivity and reduction potential of the haem and, in doing so, alter the chemistry of the haem prosthetic group.
Protein Family Databases
Authors: Mulder Nicola J
Published: October 2007

The flood of new protein sequences into public databases gave rise to the emergence of protein family databases for automatic protein functional classification. These databases developed independently and each has its own methods and areas of interest. Some of these databases have also been amalgamated into integrated protein family resources.
History of Scientific Agriculture: Crop Plants
Authors: Hancock JF
Published: October 2007

The first farming communities appeared in the
Fertile Crescent
above the Tigris River in what is now Iran about 12 000 years ago. Agriculture was also invented independently at several other locations in the world including Africa, Asia, China, Mesoamerica, South America and the Eastern US. Most of the early crops were annual types that were self‐pollinating and polyploid. Once humans began to plant and harvest, several profound changes occurred in the crop species due to conscious and unconscious selection. Some of the major changes were non shattering of seed pods, more determinate growth, more uniform ripening, larger seed size and increased seed production. Levels of genetic diversity were also greatly reduced during the process of crop domestication when humans selected only those types that were most beneficial to them.
Ecology of Water Relations in Plants
Authors: Araya Yoseph Negusse
Published: October 2007

Water is an important resource for plant growth. Availability of water in the soil determines the niche, distribution and competitive interaction of plants in the environment.
Plant Physiological Responses to Climate and Environmental Change
Authors: Midgley Guy F
Published: October 2007

A future climate and environmental regime will affect plant physiology and induce higher order responses. Implications of rising atmospheric carbon dioxide are positive for plant growth, but less so than predicted from the theory of photosynthesis, because of feedback effects within the plant, and from ecosystem level feedback effects. Rising temperatures will reduce freezing and chill stress incidence, but warming will increase metabolic rates. High extremes will induce heat‐shock responses. Higher plants are physiologically well‐defended against projected increases in UV‐B. Interactions between stresses will be multifaceted, but theory is poorly developed to make projections of their net result. A focus on testing theory using field‐based experiments will be an important way forward.
Latitudinal Diversity Gradients
Authors: Gough Lauren , Field Richard
Published: October 2007

The diversity of organisms tends to increase from the poles to the equator, a trend that is consistent over space and time. More than 30 hypotheses have been advanced to explain the phenomenon and although no consensus has yet been reached, support for the role of contemporary climate dominates the current literature. However, an integration of contemporary ecological and historical (phylogeny‐based) explanations is increasingly advocated. Most hypotheses are likely to be valid at some range of spatial scales, with mechanisms often showing interdependencies at different scales. With a continuing rise in the number of hypotheses, there is an increasing emphasis on empirical testing and falsification.
Vegetation History
Authors: Ingrouille Martin
Published: October 2007

On land, the vegetation determines in large part the distribution of other living organisms. An understanding of vegetation history is crucial for understanding present‐day terrestrial ecosystems. The vegetation is made up of several overlapping components, influenced to a greater or lesser extent by historical events. There might be relictual species that have survived from the distant past, a selected assemblage of species that survived the many relatively rapid changes in climate experienced from the beginning of the Pleistocene Ice Ages and also species that have responded more recently to the disturbance brought about by human beings.
Fisheries Management
Authors: Pauly Daniel
Published: October 2007

Fisheries management is the set of science‐based procedures used by government institutions to regulate fishers’ access to fisheries resources; this involves temporal and spatial restrictions on the deployment of fishing gear, restrictions on features of these gear, and constraints on the species and size composition of the catch, and its overall magnitude.
Multivariate Techniques in Ecology
Authors: Reyment Richard A
Published: October 2007

Multivariate statistical analysis is concerned with the simultaneous examination of two or more variables (in the case of full space) or parts (in the case of simplex space) by means of procedures based on the application of standard methods of linear algebra and differential geometry. The methods are universally applicable. In the life sciences, multivariate analysis is of wide use in animal and plant taxonomy, quantitative genetics, environmetrics, ecology and aspects of evolutionary biology.
Molecular Ecology
Authors: Freeland Joanna R , Anderson Sarah
Published: October 2007

Molecular ecology is a broad area of research that embraces topics as varied as population genetics, conservation genetics, molecular evolution, behavioural ecology and biogeography. Although somewhat varied, the areas of research within molecular ecology are united by the fact that they all use molecular genetic data to help us understand the ecology and evolution of organisms in the wild. This article provides an introductory overview of molecular ecology, and includes discussions of molecular markers, population genetics and phylogeography. It also contains examples that show how this discipline is relevant to several areas of applied science, including wildlife forensics and the management of invasive species.
Crop Plants: Evolution
Authors: Miller Allison J
Published: October 2007

All crop plants originated from wild plant populations. The domestication of plant populations occurs over several generations as a small subset of wild individuals are selected and transferred into cultivated habitats, where they undergo intensive artificial selection for various traits deemed desirable by humans. Over time, artificial selection and genetic bottlenecks result in crops that are morphologically and genetically distinct from their wild ancestors. The evolution of crop plants and the development of agricultural societies dependent upon them is associated with profound changes in human populations, including increased population sizes, the development of complex societies and technologies and dramatic environmental changes. The evolution of crop plants has been called one of the most significant developments of the last 14 000 years.
Plant Defences Against Fungal Attack: Perception and Signal Transduction
Authors: Kachroo Aardra
Published: October 2007

Phytopathogenic fungi cause over 75% of all plant diseases. Plants perceive these invaders as ‘nonself ’ via race‐specific/nonspecific factors and surmount physical and chemical responses to counter the invasion. Race‐specific recognition is generally followed by the rapid and massive induction of many of these responses resulting in resistance.
Human Genome Project: Reassessment and Philosophical Analysis
Authors: Ruse Michael
Published: October 2007

Since the discovery of the structure of the deoxyribonucleic acid (DNA) molecule, scientists have attempted to map the human genome. Completion of the project forces us to face the new task of deciding what to do with the information we have acquired.
The Wellcome Trust
Authors: Reeves Carole
Published: October 2007

The Wellcome Trust is one of the world's largest and most diverse independent biomedical charities, supporting a spectrum of activity from basic science to history of medicine. Total charitable expenditure in 2005 was £483 million and investment assets were £12.3 billion. Currently, about 90% of its funds support UK activities while most of the remainder underpins research and capacity building in developing and restructuring countries. There are over 3000 Wellcome Trust funded researchers in more than 40 countries.
History of Antiulcer Drugs
Authors: Fuccio Lorenzo , Bazzoli Franco
Published: October 2007

The therapy of peptic ulcer disease has progressively changed in the last two centuries. The optimal therapy was found only when the cause of this disease was fully understood.
Plant Behavioural Ecology
Authors: Trewavas Anthony J
Published: October 2007

Plant behaviour is different to animal behaviour using plasticity in growth and development rather than movement. Plants actively forage their environment for light and soil resources placing roots and branches in environmentally beneficial positions so as to enhance survival and thus eventual fitness. But decisions about placement are (1) often made on future predictions of energy return, (2) optimized to minimize resource outlay using self‐recognition while maximizing energy return, (3) made to guard territory (4) used to ensure plants linger longer in resource‐rich patches. Complexity in plant sexual systems and life cycle has arisen from genetic assimilation of behavioural changes as the balance of trade‐offs in resource availability has altered. Plant behaviour can thus be regarded as intelligent.
Triticum aestivum
(Wheat)
Authors: Snape John , Pánková Katerina
Published: October 2007

Wheat seeds, known as grain, are a primary source of calories for the human race, and for animal feed. They belong to the botanical tribe Triticeae in the grass family Poaceae, which also contains the related crop species, rye and barley. The centre of origin of the species is the ‘fertile crescent’ in the Middle East from where they have travelled to all continents of the World, although, typically, they are major annual crops of temperate regions.
Plant Biodiversity
Authors: Harris Stephen A
Published: October 2007

It is estimated that some 350 000 green plant species (‘green algae’, nonvascular plants, seedless vascular plants, gymnosperms, angiosperms) have been described, of which the vast majority are angiosperms. Confidence in the estimates of species numbers vary from group to group and in some cases are little better than guesswork. The main threats to plant biodiversity are humans, mediated through habitat destruction, introgression and hybridization, human population growth, pollution and overexploitation.
Grasslands
Authors: Suttie James M
Published: October 2007

Vegetation dominated by grasses, which is among the largest ecosystems in the world, has great environmental significance as well as providing feed for livestock and wildlife. Grassland types vary according to climatic zones as do their utilization and wildlife. Competition between species is affected by herbivory and disturbance. Grasslands often result from the arresting of plant succession due to fire, grazing and other anthropic intervention.
Food Webs
Authors: Schmitz Oswald J , Beckerman Andrew P
Published: October 2007

Food webs are a way of describing the lines of dependency among species in Nature. Such interdependencies are basic to all ecological processes in that species consume resources and are themselves consumed by their predators.
Mitochondrial Genome Organization and Expression in Plants
Authors: Brennicke Axel , Leaver Christopher J
Published: October 2007

The higher plant mitochondrial genome contains in the order of 50 proteins coding genes scattered throughout the genome and while much of the genome is transcribed, regulatory control is primarily exercised posttranscriptionally at the level of the ribonucleic acid (RNA) or protein turnover. In some plant species aberrant recombination events in the mitochondrial genome generate novel open reading frames, expressed as variant polypeptides, which in some cases lead to failure to produce functional pollen, a trait that has been exploited in plant breeding to produce F1 hybrid crops.
Plant Disease and Defence
Authors: Rietz Steffen , Parker Jane E
Published: October 2007

Pathogens have evolved elaborate mechanisms to invade plant tissues and cause disease. Plants, in turn, respond to pathogen infection by expressing multiple layers of resistance. Once low energy ‘basal’ defences of plant cells have been overcome by pathogens, the plant can employ a more energy costly system of nonself recognition that triggers an ‘acute’ immune response. The survival of plants depends on their ability to fine‐tune defence responses to the type of pathogen they encounter.
Hemichordates: Development
Authors: Gerhart John , Lowe Christopher , Kirschner Marc
Published: October 2007

Hemichordates resemble chordates in important aspects of their development anatomy and physiology. Within the hemichordate phylum are two main subgroups, the enteropneusts, of a few hundred species, and the pterobranchs, of 20 or so species. Comparison of hemichordates and chordates allows deductions about the common ancestor from which they both evolved.
5′‐
UTRs
and Regulation
Authors: Mignone Flavio , Pesole Graziano
Published: October 2007

The 5′ untranslated region consists of the leading part of a cellular messenger ribonucleic acid (mRNA) from the 5′ end to the translation start codon AUG. Precursor mRNA is posttranscriptionally modified by the removal of introns and by the addition at the 5′ end of a 7‐methyl‐guanylate cap structure, which has a crucial role in translation initiation and in regulating transcript stability. 5′‐UTRs as well as 3′‐UTRs, are deeply involved in regulation of gene expression through specific motifs that can affect mRNA stability, subcellular localization, nuclear export, tissue specificity and efficiency of translation.
Zinc‐finger Genes
Authors: Grant Richard P , Crossley M , Mackay Joel P
Published: October 2007

Zinc‐fingers (ZnFs) are small protein domains stabilized by one or more zinc ions. ZnF proteins are abundant in higher eukaryotes, and many contain multiple ZnF domains. Initially thought to be peculiar to transcription factors and other deoxyribonucleic acid (DNA)‐binding proteins, these domains can also interact with other proteins, ribonucleic acid (RNA) and lipids, implicating them in a mélange of biological processes.
Trinucleotide Repeat Expansions: Mechanisms and Disease Associations
Authors: Epplen Jörg T , Wieczorek Stefan
Published: October 2007

Trinucleotide (and selected other) repeat expansions may cause severe neurodegenerative disorders with adult onset. Either elongated polyglutamine/polyalanine blocks, toxic polyglutamine peptides or reduced gene expression are responsible for the differential pathogenesis of this rather novel disease category.
Insertion and Deletion of Exons during Human Gene Evolution
Authors: Cooper David N
Published: October 2007

During the evolution of human genes, exons have been both acquired and lost. The study of the structure of orthologous mammalian genes provides numerous examples of the gain or loss of exons by a variety of different mechanisms.
Receptors and Human Disorders
Authors: Hogg Ron C , Bertrand Daniel
Published: October 2007

Receptors are integral membrane proteins that allow signal transmission between cells. Alteration of the genes coding for these proteins result in cellular dysfunction that can be observed as genetically transmissible disorders.
Kinases and Phosphatases and Human Disorders: The First Drugs
Authors: van Huijsduijnen Rob Hooft
Published: October 2007

Kinases are enzymes that transfer phosphate groups from simple precursors (adenosine‐ or guanosine‐triphosphate) to proteins, lipids or carbohydrates. Phosphatases catalyse the reverse reaction and produce free phosphate.
Transcription Factors
Authors: Latchman David S
Published: October 2007

Transcription factors are regulatory proteins that can increase or decrease the transcription of a particular gene from deoxyribonucleic acid into the corresponding ribonucleic acid. They play a key role in embryonic development, the creation and maintenance of cell type‐ and tissue‐specific patterns of protein synthesis and the response to cellular signalling pathways.
Genetic Databases
Authors: Attwood Teresa K
Published: October 2007

Internationally available databases contain the sequences of genes, together with related information concerning the proteins they encode, their functions, disease associations and so on. These repositories capture the data emerging from the worldwide genome sequencing projects, and make them freely available to the community for all aspects of modern biological and biomedical research.
Mutation Databases
Authors: Béroud Christophe , Claustres Mireille
Published: October 2007

In the 1970s began the organization of medical knowledge in databases. Twenty years later, few groups understood the importance of mutations in all areas of health care and the need to create mutation databases. To classify, interpret and develop this knowledge, two complementary approaches have been developed: the collection of mutations from a large set of genes (core database) and the collection of mutations from a single gene (Locus Specific Database). During the last decades the developments of technology, especially the availability of large scale sequencing, led to the collection of tens of thousands of mutations and polymorphisms. The mass of data is now sufficient to address fundamental questions such as the predictive medicine. Concomitantly new bioinformatics tools are developed to evaluate the pathogenic impact of a given mutation or its consequence on the 3D structure of the protein and to identify cellular signals such as Exonic Splicing Enhancers and Exonic Splicing Silencers either disrupted or created by mutations. In the near future, tremendous progresses will be made to collect phenotypic information and will be of considerable importance for the development of new therapeutic strategies based on mutations such as the exon‐skipping or the premature termination codon read‐through.
Gene Feature Identification
Authors: Makałowska Izabela
Published: October 2007

The identification of all genes is one of the goals of any genome‐sequencing project. Apart from laboratory techniques, genes can also be identified by using computational, homology‐based or
ab initio
(model‐based) methods, which differ in their performance according to the sequence being analysed. With the growing number of sequenced genomes, comparative genomics is becoming the most powerful method for deciphering genomes.
Homozygosity Mapping
Authors: Génin Emmanuelle , Todorov Alexandre A
Published: October 2007

The mapping of genes involved in rare recessive disorders in large outbred population is often a difficult task because of the lack of families with multiple affected individuals. Homozygosity mapping is an efficient gene mapping method applicable to rare recessive disorders in inbred populations. Indeed, the method takes advantage of the fact that inbred affected individuals are likely to have two recessive copies of the disease allele from a common ancestor; i.e. two identical‐by‐descent (IBD) alleles. Since small chromosomal regions tend to be transmitted whole, affected individuals will also have identical‐by‐descent alleles at markers located nearby the disease locus and thus will be homozygous at these markers. The basic idea of the method to locate genes involved in rare recessive traits is thus to search for regions of homozygosity that are shared by different affected individuals.
Ascertainment in Genetics Studies
Authors: Wang Xueqin , Zhang Heping
Published: October 2007

Certain ascertainment schemes are often used to recruit the study subjects in genetic studies in order to enhance the study feasibility. It could raise potential problems such as biased inference. Efforts have been made to correct the ascertainment bias by integrating ascertainment information into models. Recently, it has been noted that the past efforts may not be enough due to parameter heterogeneity, which probably exists in a complex genetic trait. In this review, we summarize the current understanding of the ascertainment problems and correction procedures and remaining challenges.
Genotype‐Phenotype Relationships
Authors: Lyonnet Stanislas , Feingold Josué , Frézal Jean
Published: October 2007

Since the beginning of the cloning of human disease‐causing genes and the identification of gene mutations, in most cases of Mendelian disorders a clear correlation between a given genotype and a particular phenotype has not been established. Understanding the complex relationships between genotypes and phenotypes is one of the greatest challenges of genetic medicine, because the elucidation of these correlations is the key to using genetic diagnosis and DNA‐based tests for the diagnosis, prognosis and surveillance of individuals affected by genetic conditions.
X‐chromosome Inactivation and Disease
Authors: Lyon Mary F
Published: October 2007

X‐chromosome inactivation is the phenomenon in which one of the two X chromosomes in every somatic cell of female mammals becomes transcriptionally inactive early in embryonic development. This has the result of equalizing the effective gene dosage of X‐linked genes in chromosomally XX females and XY males, and is hence known as a dosage‐compensation mechanism. In humans, X‐chromosome inactivation has implications for the effects seen in diseases due either to X‐linked genes or to numerical or structural anomalies of the X‐chromosome.
Apoptosis: Disorders
Authors: Su Helen C , Lenardo Michael J
Published: October 2007

Apoptosis is an orderly physiological process of programmed cell death widely used in the body for remodelling organs during growth and development and for eliminating cells that are no longer needed or that are a threat to the organism. In the immune system, apoptosis serves to return the body to its normal state by limiting the magnitude and duration of lymphocyte responses to invading pathogens. Defective apoptosis in either mice or humans leads to disturbed lymphocyte homeostasis and potentially the development of autoimmunity or neoplasia.
The Fragile
X
Syndrome
Authors: Davidovic Laetitia , Tournier Barthélémy , Khandjian Edouard W
Published: October 2007

Fragile X syndrome is the most common form of inherited mental retardation affecting approximately 1/7000 females and 1/4000 males worldwide. The syndrome is due to the silencing/dysfuntion of a single gene, the
FRAGILE X MENTAL RETARDATION 1
gene, and affected patients display a variety of physical and mental abnormalities. In the last 15 years, research advances in the fragile X syndrome field have lead to a better understanding of its molecular basis as well as of the pleiotropic phenotypic effects caused by the absence of the fragile X mental retardation protein.
Fragile Sites
Authors: Sutherland Grant R
Published: October 2007

Fragile sites are specific points on chromosomes that show nonrandom gaps or breaks when the cells from which the chromosomes have been prepared have been exposed to a specific chemical agent or condition of tissue culture. Hence a fragile site is an area of chromatin which is not compacted when viewed in mitosis.
Dysmorphic Syndromes
Authors: Fryns Jean‐Pierre , Van Esch Hilde
Published: October 2007

Syndromes of facial dysmorphism may present very variable phenotypes even when the underlying molecular basis is similar. Several well‐known craniofacial abnormalities have been found to be alleles at the same locus.
Preimplantation Diagnosis
Authors: Anver Kuliev , Rechitsky Svetlana , Yury Verlinsky
Published: October 2007

Preimplantation diagnosis is testing for a causative gene before pregnancy, allowing the preselection of unaffected embryos before implantation into the uterus. It has currently become an alternative to prenatal diagnosis, providing an option for at‐risk couples to have unaffected children of their own without facing the risk of a pregnancy termination after prenatal diagnosis. It is presently also the practical means in assisted reproduction technology (ART) to improve the
in vitro
fertilization (IVF) effectiveness. Most recently this technology was applied for preimplantation HLA typing to improve the access to the HLA identical stem cell transplantation, and will in future contribute to the development of the cellular therapy for genetic and acquired disorders.
Genetic Information and the Family in Japan
Authors: Macer Darryl RJ
Published: October 2007

Historical fears over the use of genetic information in Japan cause rural people to hide the presence of genetic disease in their family. In urban and modern Japan, this image is changing and genetic counseling is gradually being introduced. Guidelines of the Japan Society of Human Genetics attempt to protect the clients and their families.
Genetic Counseling Consultations: Uncertainty
Authors: van Zuuren Florence J
Published: October 2007

The frequent portrayal of genetics in the media as able to provide accurate information with a high degree of confidence contrasts sharply with the uncertainty that is a dominant feature in much genetic counseling.
Code of Ethical Principles for Genetics Professionals
Authors: Baumiller Robert C , Meier Timothy J , FitzGerald Kevin
Published: October 2007

Genetic ethics is evolving at a slower pace than genetic technology. Geneticists with an interest in ethics are beginning to work with philosophical ethicists to protect users of this knowledge.
Feminist Perspectives on Human Genetics and Reproductive Technologies
Authors: Dickenson Donna L
Published: October 2007

Feminism offers two separate but equally important insights about human genetics and the new reproductive technologies. First, feminism is concerned with ways in which these new technologies have the potential to exploit women while seeming to offer women greater reproductive freedom. Second, feminism draws our attention to the ways in which decisions about genetic testing and reproductive choice take place in the context of relationship.
Genetic Enhancement
Authors: Bayertz Kurt , Quante Michael
Published: October 2007

Genetic enhancement is a special form of genetic engineering that aims at improving human organisms, either by producing new traits or by strengthening existing ones. Genetic enhancement is generally distinguished from (genetic) therapy and is often regarded as ethically problematic or even inadmissible.
Human Cloning
Authors: McLaren Anne
Published: October 2007

Cloning means producing genetically identical organisms, identical either to each other or to some preexisting organism. Human cloning could be used to produce early embryos genetically identical to a patient, in order to derive immunologically compatible stem cells for the treatment of the patient's disease (therapeutic cloning); or, if cloned embryos were transferred to a woman's uterus, they could produce babies genetically identical to each other or to some progenitor (reproductive cloning).
Dolly and Polly
Authors: Petersen Alan
Published: October 2007

Dolly, born in 1996, achieved notoriety by being the first mammal to be cloned from the nucleus of a fully differentiated cell, taken from the udder of an adult sheep. Polly, born a year after Dolly, was not only cloned but was also genetically transformed; that is, she carried an introduced gene that codes the protein factor IX, which is involved in blood clotting, which has huge therapeutic value.
Sex Selection
Authors: Davis Dena S
Published: October 2007

People have always attempted to influence the sex of their children. Until recently, prenatal screening followed by abortion of the undesired fetus was the only effective method, and most people who used that method did it to avoid the birth of girls. Today, preconception sex selection is becoming available, and people in the West are more likely to want to ‘balance’ their families than to avoid girls. These developments raise new questions about the ethics of sex selection.
Medical Genetics in Britain: Development Since the 1940s
Authors: Zallen Doris T
Published: October 2007

Medical genetics refers to the use of genetic information in the healthcare setting. This can include services such as providing an assessment of risk for the occurrence of gene‐based disorders, employing tests to determine an individual's actual genetic status and using genetic approaches as part of treatments.
Nazi Movement and Eugenics
Authors: Weindling Paul
Published: October 2007

Pre‐war Nazi ideas about the need to keep the population free from the burden of ‘unfit’ persons led first to eugenic measures and then to a widespread sterilization program. This paved the way for coercive euthanasia and finally the Holocaust, both of which were (to the shame of the science) exploited as research material by the German geneticists of the day.
Eugenics: Contemporary Echoes
Authors: Duster Troy
Published: October 2007

Eugenics, the attempt to influence human breeding in the collective to ‘better’ human genetic stock, was popular between 1890 and 1938 in both the United States and Europe. Latent and subtle elements of eugenic thinking still persist in genetic screening and testing, and in genetic‐marker profiles of criminal suspects in forensic science.
Patenting of Genes: A Personal View
Authors: Rifkin Jeremy
Published: October 2007

The discoveries of human and other genetic resources will be of such significance in the ‘Biotech Age’ that they should be placed in the common ownership of the whole human race.
Genetics in Contemporary Germany
Authors: Nippert Irmgard
Published: October 2007

Although medical genetics as a discipline has been successfully reinstitutionalized in postwar Germany, there has been more resistance to developments in modern genetics in Germany than in most other West European and North American countries. The main reason for this resistance is the still prevalent painful collective memory of past scientific excesses and abuses inflicted against people with genetic conditions during the Third Reich.
Nazi Scientists
Authors: Müller‐Hill Benno
Published: October 2007

Scientists who acceded to the demands and offers of the government of Nazi Germany.
Eugenics Society
Authors: Mazumdar Pauline MH
Published: October 2007

Eugenics in Britain was seen as a solution to the problem of pauperism. It was a political, rather than a scientific movement: it did not, however, achieve its aim of legalizing sterilization for the feebleminded.
Intelligence Tests and Immigration to the United States, 1900–1940
Authors: Allen Garland E
Published: October 2007

Measuring innate (genetically determined) mental traits was a major part of the psychometric movement in the early decades of the twentieth century. Low test scores (given as an intelligence quotient, or IQ) were used by eugenicists to lobby in the US Congress for restricting immigration of those claimed to be genetically inferior in IQ.
Genetic Registers
Authors: Kerzin‐Storrar Lauren
Published: October 2007

The term ‘genetic registers’ has been used to describe a range of entities, including databases of research cases and samples, sources of epidemiological data and clinical record systems; however, the current usage refers to a genetic service that proactively offers genetic counseling and long‐term follow‐up to extended families affected by specified genetic conditions, over generations. While having a primary aim of promoting ongoing access to genetic counseling services to all family members at risk, the nature of a proactive, family‐based service necessitates careful attention to potentially controversial issues.
Genetic Testing of Children
Authors: Procter Annie
Published: October 2007

It is generally well recognized and accepted that opportunities exist to test individuals for genetic disorders; however, the application of such genetic testing during childhood is subject to controversy and debate.
Genetic Counseling: Nondirectiveness
Authors: Wolff Gerhard
Published: October 2007

Nondirectiveness in genetic counseling is an attitude that, in practice, tries to avoid the pitfalls of directiveness by respecting client autonomy as far as possible. It has its roots in humanistic psychology, but its development has been poorly recognized in human genetics; therefore it is often misinterpreted and misunderstood.
Genetic Counseling: Psychological Models in Research and Practice
Authors: Shiloh Shoshana
Published: October 2007

Genetic counseling is described as a series of psychological processes including communication, judgment, decision‐making, health behavior, coping and adjustment. Psychological models pertaining to these processes provide a perspective for understanding genetic counseling.
Predictive Genetic Testing: Psychological Impact
Authors: Evers‐Kiebooms Gerry , Claes Erna , Denayer Lieve , Decruyenaere Marleen
Published: October 2007

Predictive genetic tests are deoxyribonucleic acid (DNA) tests that predict the future of an asymptomatic person in regard to a specific disease that runs in the family. They require an adequate multidisciplinary counseling approach because the test result has consequences for the psychological wellbeing of the testees and their family.
Genetic Counseling Profession in Europe
Authors: Skirton Heather
Published: October 2007

In many European countries, nonmedical genetic counselors are working as part of the clinical team, providing both information and support for individuals and families at risk of or affected by a genetic condition. Setting standards of competence, ethics and educational preparation is integral to establishing a profession.
Huntington Disease: Predictive Genetic Testing
Authors: Craufurd David
Published: October 2007

Predictive testing for Huntington disease offers potential benefits to those at‐risk individuals who want to find out their genetic destiny in order to have greater control over their lives, although the potential psychological impact of the procedure must be carefully considered.
Down Syndrome: Antenatal Screening
Authors: Reynolds Tim
Published: October 2007

Antenatal screening for Down syndrome involves the application of noninvasive measurements (blood tests or ultrasound scanning) taken early in pregnancy to determine whether a fetus is likely to be affected by Down syndrome, to allow identification of a small proportion of pregnancies (usually around 5%) in which to carry out an invasive diagnostic test (chorionic villus sampling or amniocentesis). Restriction of the invasive test is advisable because there is a risk of iatrogenic fetal loss as a result of the diagnostic test.
Newborn Screening Programs
Authors: Parsons Evelyn P , Bradley Don M
Published: October 2007

Newborn screening programs are used to detect diseases in neonates by analyzing a blood sample collected by heel‐prick, usually during the first week of life.
Polygenic Inheritance and Genetic Susceptibility Screening
Authors: Wilkie Andrew OM
Published: October 2007

The genetic contribution to most common diseases of adult life, as well as variation in human characteristics, involves the interaction of multiple factors (polygenic inheritance). The identification of these genetic factors is the focus of a major research effort, but translating the findings into useful individualized risk predictions will be difficult.
Genetic Susceptibility
Authors: Emslie Carol , Hunt Kate
Published: October 2007

Genetic susceptibility is the presence of inherited genetic factors in an individual that confer increased risk for a particular disease, but do not, by themselves, cause the disease. Therefore, genetic susceptibility is only one component in the etiology of common diseases such as coronary heart disease. The risk of passing on common diseases to offspring is difficult to predict because of complex interactions between different genes, and between behavioral, environmental and genetic factors.