bluuebunny/crossref_metadata_2025 huggingface dataset:
Plant Viruses: Soil‐borne
Authors: Robinson David J
Published: September 2006

A small number of plant viruses are transmitted through the soil, either by fungal or nematode vectors, or without the aid of a vector. The limited spread but long persistence of these viruses pose particular problems for their control.
Gonadal Sex Determination and Differentiation
Authors: Koopman Peter , Wilhelm Dagmar
Published: September 2006

The development of male or female sex in the embryo is dependent on whether testes or ovaries develop from the primordial gonads. This decision is in turn controlled by the function of a gene,
SRY
, found on the Y chromosome in mammals.
Genome Organization of Vertebrates
Authors: Bernardi Giorgio
Published: September 2006

Compositional genomics, an approach relying on the base composition of genomes, helped to solve a long‐standing problem, namely the sequence organization of vertebrate genomes and, more generally, of eukaryotic genomes.
Chromosomal Bands and Sequence Features
Authors: Holmquist Gerald P
Published: September 2006

The linear order of DNA is preserved during chromosome condensation. Metaphase chromosome bands are clusters of contiguous replicons of 2–10 Mb that initiate and terminate DNA synthesis in synchrony during a small fraction of S phase.
Isochores
Authors: Bernardi Giorgio
Published: September 2006

Chromosomes of warm‐blooded vertebrates are mosaics of isochores. These are long deoxyribonucleic acid segments that are fairly homogeneous in base composition. In the human genome, isochores can be assigned to five families characterized by increasing levels of guanine and cytosine and by increasing gene densities.
Single Nucleotide Polymorphism (SNP)
Authors: Brookes Anthony J
Published: September 2006

A single nucleotide polymorphism (SNP) is an abundant form of genome sequence variation comprising single base pair alternatives represented at a population frequency of more than 1%. SNPs contribute greatly to the genetic basis of phenotypic variation in ways yet to be fully understood.
Gene Structure and Organization
Authors: Rowen Lee
Published: September 2006

The sequence of the human genome enables a delineation of genes and analysis of their structural properties and organization in the context of the chromosome.
3′ UTRs and Regulation
Authors: Hesketh John
Published: September 2006

Messenger RNAs contain sequences that do not encode proteins and are not translated. These occur at the 5′ and 3′ ends of the coding region and are referred to as untranslated regions (UTRs). 3′ UTRs have various roles in the posttranscriptional control of gene expression.
L Isochore Map: Gene‐poor Isochores
Authors: Ross Mark T
Published: September 2006

The genomes of warm‐blooded vertebrates are composed of isochores of relatively homogeneous G+C content. The L isochores are those with the lowest G+C content and are associated with the lowest density of genes.
Nonprotein‐coding Genes
Authors: Tollervey David
Published: September 2006

In addition to the genes that encode messenger ribonucleic acids and are translated into proteins, the human genome includes hundreds to thousands of genes that encode a variety of functional ribonucleic acid (RNA) molecules. The number of known RNA species has grown rapidly in recent years and many additional examples will doubtless be found.
Structural Proteins: Genes
Authors: Chu Mon‐Li
Published: September 2006

Structural proteins are proteins required for the building and support of body tissues. These include collagens, which provide the integrity and tensile strength of connective tissues, bone and cartilage, and myosins, which are important for the elasticity and contractility of muscles. Genes for structural proteins are usually present as a single copy per haploid genome.
Alternative Promoters: Duchenne Muscular Dystrophy (
DMD
) Gene
Authors: Nudel Uri
Published: September 2006

The Duchenne muscular dystrophy gene is the largest and one of the most complex genes known to date. Four 5′ promoters regulate, in a cell‐type‐specific manner, the expression of full‐length gene product, the protein called dystrophin. In addition, four internal promoters regulate the expression of smaller proteins which lack important parts of dystrophin, and probably have different functions.
CpG Islands and Methylation
Authors: Antequera Francisco
Published: September 2006

Most CpG dinucleotides in the human genome are methylated at position 5 of cytosine. Methylated sequences are associated with transcriptional repression and an inactive chromatin conformation. In contrast, CpG islands are nonmethylated, G + C‐rich regions of approximately 1 kb in length that represent approximately 1% of the genome. In the great majority of cases, they are located at the 5′ end of more than half of all human genes.
Enhancers
Authors: Bulger Michael , Groudine Mark
Published: September 2006

Enhancers are deoxyribonucleic acid sequence elements that are capable of activating transcription from linked promoters independent of their orientation or position with respect to the promoter. They are the primary elements responsible for tissue‐specific gene expression in multicellular eukaryotes, and appear to work largely by counteracting repression by chromatin.
Negative Regulatory Elements (NREs)
Authors: Hampsey Michael
Published: September 2006

Negative regulatory elements (NREs) are DNA sequences that repress gene expression. NREs can act locally to repress the expression of individual genes, or globally to repress the expression of a expansive chromosomal domain. In either case, NREs act as binding sites for specific proteins, which in turn interact with other factors either to block the recruitment of RNA polymerase or to facilitate the formation of heterochromatin.
snoRNPs
Authors: Pogačić Vanda , Filipowicz Witold
Published: September 2006

snoRNPs are nucleolus‐localized ribonucleoprotein particles that comprise small RNAs (snoRNAs) and a few associated proteins. Known snoRNPs can be subdivided into two major classes, C/D and H/ACA, which direct site‐specific 2′‐
O
‐ribose methylation and pseudouridylation of ribosomal RNA (rRNA) respectively. Some snoRNPs participate in precursor rRNA processing.
Locus Control Regions (LCRs)
Authors: Bulger Michael , Groudine Mark
Published: September 2006

Locus control regions (LCRs) are defined as DNA sequence elements that confer high‐level, tissue‐specific expression to stably integrated transgenes in a position‐independent manner. As such, LCRs mediate gene activation and render a high proportion of genomic integration sites permissive for such expression, and are distinguished from simple enhancers.
RNA Processing
Authors: Smith Christopher WJ , Scadden ADJ
Published: September 2006

Eukaryotic RNA transcripts undergo multiple processing reactions before becoming mature functional RNA products. Processing reactions involve base and sugar modifications as well as the removal of noncoding sequences (introns). RNA processing is not only necessary for proper gene expression, but also allows individual genes to produce multiple protein isoforms by alternative splicing and RNA editing.
Splicing of pre‐mRNA
Authors: Newman Andrew
Published: September 2006

Eukaryotic messenger ribonucleic acids (mRNAs) are transcribed as precursors containing introns, which are excised by splicing together the surrounding exon sequences to produce the mature mRNA. Alternative splicing of precursor mRNAs in higher eukaryotes contributes to proteomic diversity by allowing a single gene to direct the synthesis of functionally diverse proteins.
SR
Proteins
Authors: Graveley Brenton R , Hertel Klemens J
Published: September 2006

Members of the serine/arginine‐rich (SR) protein family have several important functions in mRNA biogenesis. SR proteins are essential splicing factors that also participate in the regulation of alternative splicing and the export of mRNAs from the nucleus to the cytoplasm.
Leucine Zippers
Authors: Hakoshima Toshio
Published: September 2006

The leucine zipper (ZIP) motif consists of a periodic repetition of a leucine residue at every seventh position and forms an α‐helical conformation, which facilitates dimerization and in some cases higher oligomerization of proteins. In many eukaryotic gene regulatory proteins, the ZIP motif is flanked at its
N
‐terminus by a basic region containing characteristic residues that facilitate DNA binding.
Transmembrane Domains
Authors: Ramasarma T , Joshi NV
Published: September 2006

One or more passes of polypeptide chains of the lipid bilayer, each consisting of about 25 hydrophobic residues with the occasional presence of a polar residue, anchor integral proteins in the cell membrane. These are known as transmembrane domains and participate in the functions of these proteins in some unspecified way. Encoded by a random exon make‐up, sequences of these short stretches are highly variable with hardly any repetition.
Forkhead Domains
Authors: Kaufmann Eckhard , Knöchel Walter
Published: September 2006

The forkhead domain or box represents an evolutionarily conserved DNA‐binding motif of winged helix structure that has a degree of similarity to the helix–turn–helix motif found in other DNA‐binding proteins. Forkhead box (Fox) proteins are involved in a variety of biological processes such as early embryogenesis, organogenesis, tumorigenesis and signal transduction.
Multidomain Proteins
Authors: Traut Thomas
Published: September 2006

Protein domains that have a necessary function are often used in many different proteins. Protein architecture has evolved to utilize a large set of such domains in forming the thousands of different proteins necessary for any living organism. Simple proteins normally contain only one or a few domains, while larger proteins may have incorporated more than 30 domains needed for the more complex cellular functions.
Nicotinic Receptors
Authors: Itier Valérie , Bertrand Daniel
Published: September 2006

Nicotinic receptors are cationic ligand‐gated channels that mediate fast synaptic transmission in the peripheral nervous system. Alternative and specific nicotinic receptors are expressed in the central nervous system where they modulate neurotransmitter release.
RNAPolymerases and the Eukaryotic Transcription Machinery
Authors: Woychik Nancy A
Published: September 2006

RNA polymerase and its associated proteins play a central role in human gene regulation. This transcription machinery is poised to sense and respond to the multiplicity of cellular signals designed to customize synthesis of both the amount and type of RNA based on the specialized needs of cells comprising human tissues.
Retroviral Repeat Sequences
Authors: Mager Dixie L , Medstrand Patrik
Published: September 2006

Retroviral repeats are genomic DNA segments that have structural or sequence similarity to the integrated (proviral) forms of vertebrate retroviruses. Such sequences are termed endogenous retrovirus‐like elements or, more commonly, endogenous retroviruses.
Centromeric Sequences and Sequence Structures
Authors: Koch Jorn
Published: September 2006

Centromere function is essential for the faithful passing on of the parental genome to daughter cells in cell division. The functional DNA element in human centromeres is the α‐satellite DNA.
Telomeric and Subtelomeric Repeat Sequences
Authors: Price Carolyn M
Published: September 2006

Telomeric repeats are the tandem arrays of a short G‐rich sequence that are present at the ends of most eukaryotic chromosomes. Subtelomeric sequences lie adjacent to the telomeric repeats and are composed of complex, low‐copy repeated sequences.
Trinucleotide Repeat Expansions: Mechanisms and Disease Associations
Authors: Epplen Jörg T , Gencik Martin
Published: September 2006

Trinucleotide (and selected other) repeat expansions may cause severe neurodegenerative disorders with adult onset. Either elongated polyglutamine blocks or reduced gene expression are responsible for the differential pathogenesis of this novel disease category.
Paralogous Genes and Gene Duplications
Authors: Lundin Lars‐Gustav , Larhammar Dan , Hallböök Finn
Published: September 2006

Paralogous genes exist within the genome of a particular species, have a common ancestry, and are the result of gene duplications. These duplications take place by a variety of mechanisms and may involve individual genes, chromosome regions, chromosomes or even entire genomes (tetraploidization). Gene duplications have facilitated the evolution of more complex organisms.
Genetic Code: Evolution
Authors: Trifonov Edward N
Published: September 2006

‘Genetic code’ is the common name for the RNA–protein translation (
triplet
) code, one of many different codes harbored by the genomic sequences. This code was the first to be deciphered, is the best studied, and is considered to be the major code.
Human Populations: Evolution
Authors: Cann Rebecca L
Published: September 2006

Human populations began a separate evolutionary genetic trajectory about 6 million years ago, but the common ancestors of all modern human populations share a more recent past, and generally trace back to less than 1 million years ago. Estimating the exact age of these genetic ancestors, who likely came out of Africa and dispersed around the world, depends on the particular set of genes examined.
Human Genetic Diversity
Authors: Jorde Lynn B
Published: September 2006

Genetic diversity within and between human populations is being studied extensively. The results of these studies can be applied to questions about human evolutionary history, forensics and gene identification.
Heterozygosity
Authors: Li Wen‐Hsiung
Published: September 2006

Heterozygosity is a commonly used measure of genetic variability in a population.
Introns: Movements
Authors: Long Manyuan , Cerff Rüdiger
Published: September 2006

Introns can be lost, gained or displaced more or less frequently in evolution and in a lineage‐specific manner. These movements, leading to major mutations in eukaryotic genes and genomes, can happen at the deoxyribonucleic acid (DNA) level or involve ribonucleic acid (RNA) intermediates.
Introns: Phase Compatibility
Authors: Patthy László
Published: September 2006

Introns that lie between coding regions of protein‐coding genes may be assigned to three different phase classes, depending on their position relative to the reading frame of the translated protein: phase 0 (located between two codons), phase 1 (splitting codons between the first and second nucleotides) or phase 2 (splitting codons between the second and third nucleotides). In the case of protein‐coding genes with a unique pattern of pre‐mRNA splicing (and a unique protein product), the 5′and 3′ splice junctions of an intron always belong to the same phase class (as defined by the unique protein product).
Alternative Splicing: Evolution
Authors: Patthy László
Published: September 2006

Alternative splicing of pre‐messenger ribonucleic acid (pre‐mRNA) allows the generation of different mRNAs from the same gene. Evolution of alternative splicing affecting translated regions of mRNAs permits the synthesis of different proteins from a single gene, significantly increasing the diversity of the protein repertoire.
Exons: Insertion and Deletion during Evolution
Authors: Cooper David N
Published: September 2006

During evolution, exons have been both acquired and lost by genes in different lineages. The study of the structure of orthologous genes provides numerous examples of the gain or loss of exons by a variety of different mechanisms.
Promoters: Evolution
Authors: Gumucio Deborah L
Published: September 2006

Evolutionarily conserved promoter elements may direct similar patterns of gene expression in diverse species. Conversely, one of the most important mechanisms for the shaping of new species and new attributes is the evolution of new patterns of gene expression. Strategies aimed at identifying both conserved and evolving promoter elements will be major targets for future study.
Gene Deletions in Evolution
Authors: Cooper David N
Published: September 2006

Gross gene deletions and microdeletions have occurred during primate evolution. A number of gene deletions occur as polymorphic variants in human populations. The generative mechanisms underlying evolutionarily significant gene deletions appear to be similar to those responsible for pathological gene deletions, suggesting a predisposing role for the local DNA sequence environment.
Gene Duplication: Evolution
Authors: Li Wen‐Hsiung
Published: September 2006

Gene duplication is the major source of genetic novelties, because a duplicate copy may be free to change to a new function. Indeed, genome sequencing and statistical analyses have revealed that each eukaryotic genome contain numerous duplicate genes. Furthermore, there is evidence that a genome duplication occurred in the common ancestor of vertebrates and this might has been important for the diversification and organismal complexity of vertebrates.
Gene Conversion in Health and Disease
Authors: Patrinos George P , Grosveld Frank G
Published: September 2006

Gene conversion is a form of recombination between homologous DNA sequences. This evolutionarily conserved process can act on multiple gene copies, either to maintain sequence homogeneity or to generate sequence diversity rapidly within a gene family. Pathogenic gene conversion events are the cause of various mutations in human diseases.
Evolutionary Distance
Authors: Li Wen‐Hsiung
Published: September 2006

Evolutionary distance refers to the cumulative evolutionary change between two DNA or protein sequences that were derived from a common ancestral sequence.
Evolutionary Distance: Estimation
Authors: Nei Masatoshi , Zhang Jianzhi
Published: September 2006

Evolutionary distance refers to the number of nucleotide substitutions per site between two homologous DNA sequences or the number of amino acid substitutions per site between two homologous protein sequences.
Molecular Clocks
Authors: Li Wen‐Hsiung , Makova Kateryna D
Published: September 2006

The molecular clock hypothesis postulates that the rate of evolution in a macromolecule is approximately constant per year over time and among different evolutionary lineages. While local clocks in closely related organisms with similar generation times can be useful for dating evolutionary events, strong evidence now suggests that no global or universal clock exists in mammals.
Hox
Genes and Body Plan: Evolution
Authors: Tour Ella , McGinnis William
Published: September 2006

The development of diverse structures on the anterior–posterior axis of animal embryos is dependent on homeotic or
Hox
genes. The expression and function of the
Hox
genes varies during evolution and underlies some of the morphological differences in different animal taxa.
Pseudogenes: Age
Authors: Rhoads Allen R , Friedberg Felix
Published: September 2006

Pseudogenes are valuable evolutionary markers that undergo neutral evolution. Determination of the age of pseudogenes can confirm the order of evolutionary emergence and provide evidence for common ancestry.
Pseudogenes: Patterns of Mutation
Authors: Martínez‐Arias Rosa , Calafell Francesc , Bertranpetit Jaume
Published: September 2006

Pseudogenes lack biological function and are therefore free from selective pressure. This makes them extremely useful tools for the study of mutation processes and especially to estimate the pattern of spontaneous mutation in the genome. The nonrandomness of the mutational processes and the existence of mutational hot spots have also been deduced from studies on pseudogenes.
Primate Evolution: Gene Loss and Inactivation
Authors: Cooper David N
Published: September 2006

The loss or inactivation of single‐copy nonessential genes has occurred on several occasions during primate evolution. Inactivating mutations may have been fixed either by genetic drift or through conferment of some selective advantage, such as pathogen‐mediated selection.
Gene Families: Formation and Evolution
Authors: Ohta Tomoko
Published: September 2006

A gene family is a set of genes derived by duplication of an ancestral gene. Various gene families, from small to large and from uniform to diverse, reflect effects of natural selection, random genetic drift and molecular mechanisms of gene duplication.
Gene Families: Multigene Families and Superfamilies
Authors: Ohta Tomoko
Published: September 2006

Multigene families are defined as groups of genes with sequence homology and related overlapping functions, whereas superfamilies are defined as a group of proteins or genes of common origin with nonoverlapping functions. If a group of proteins or genes contains a domain of common origin, it is a superfamily; a protein or a gene may belong to two or more superfamilies.
Major Histocompatibility Complex (MHC) Genes: Evolution
Authors: Hughes Austin L
Published: September 2006

The major histocompatibility complex is a family of genes whose products play a key role in the immune system, presenting peptides to T cells. This family includes the most polymorphic loci known in animals.
Phylogenetics
Authors: Li Wen‐Hsiung
Published: September 2006

Phylogenetics concerns the development of methods for reconstructing evolutionary relationships among organisms and the application of such methods to reconstruct phylogenetic trees using morphological or molecular data.
Hominids: Molecular Phylogenetics
Authors: Arnason Ulfur , Janke Axel
Published: September 2006

Molecular relationships among the great apes (including
Homo
) and molecular estimates of the times of their divergences.
Reading and Dyslexias
Authors: Smith Shelley D , Deffenbacher Karen E , Brower Amy M
Published: September 2006

Specific reading disability (dyslexia) is an unexplained difficulty in learning to read and spell despite adequate intelligence and opportunity and without demonstrable sensory or neurologic handicap. Twin and family studies have demonstrated a genetic component to the variation in reading ability, and gene localization studies have identified several candidate regions, with strongest support for a gene at 6p21.3.
Brain: Neurodevelopmental Genetics
Authors: Skuse David H , Baker Kate D
Published: September 2006

Genes expressed during development regulate the structure and function of the growing brain. Neurodevelopmental genetic mechanisms interacting with environmental influences predispose vulnerable individuals to structural and functional brain disorders.
Twin Study Contributions to Understanding Ontogeny
Authors: Lemery Kathryn S
Published: September 2006

The genetic contribution to individual differences in development during infancy and childhood can be estimated with a twin study.
Anxiety Disorders
Authors: Benjamin Jonathan , Kennedy James
Published: September 2006

Anxiety disorders are psychiatric syndromes in which pathological anxiety is the dominant feature. The results of family studies and twin studies suggest a genetic contribution to these disorders, especially in the case of panic disorder. The molecular search for responsible genes has just begun.
Identical Twins Reared Apart
Authors: Bouchard Jr Thomas J
Published: September 2006

Identical twins reared apart constitute two individuals with the same genetic constitution (genotype) reared in two different environments. The study of a series of such twins allows us to estimate the influence of genetic and environmental factors on measured characteristics (phenotypes) of the twins. Studies of twins reared apart have consistently confirmed the findings of studies of twins reared together, which have demonstrated moderate genetic influence on virtually all reliably measured psychological traits.
Mood Disorders: Molecular
Authors: Craddock Nick , Jones Ian , Kent Lindsey
Published: September 2006

Mood disorders are common complex genetic disorders in which the core feature is a pathological disturbance of mood ranging from extreme elation (mania) to severe depression. Large‐scale positional and candidate gene studies are ongoing and promising findings are emerging but robust confirmation is awaited.
Psychopharmacogenetics
Authors: Ozaki Norio
Published: September 2006

Pharmacogenetics is the science of pharmacological response and its modification by hereditary influence; psychopharmacogenetics is the application of pharmacogenetics to the field of psychiatry.
Receptors and Human Disorders
Authors: Favre Isabelle , Bertrand Daniel
Published: September 2006

Receptors are integral membrane proteins that allow signal transmission between cells. Alteration of the genes coding for these proteins results in cellular dysfunction observed as genetically transmissible disorders.
Ion Channels and Human Disorders
Authors: Davies Nicholas P , Eunson Louise H , Hanna Michael G
Published: September 2006

The human channelopathies are a rapidly expanding group of mainly genetic conditions characterized by dysfunction of membrane‐bound glycoproteins (ion channels). Several neurological and general medical disorders have been shown to be due to underlying ion channel dysfunction. DNA‐based diagnosis is now available for many of these disorders.
Kinases and Phosphatases and Human Disorders
Authors: van Huijsduijnen Rob Hooft
Published: September 2006

Kinases are enzymes that transfer phosphate groups from simple precursors (adenosine or guanosine triphosphate) to proteins, lipids or carbohydrates. Phosphatases catalyze the reverse reaction and produce free phosphate.
Molecular Machines and Human Disorders
Authors: Oosawa Fumio
Published: September 2006

Living cells contain various kinds of molecular machine constructed from protein molecules, sometimes with nucleic acid molecules. They work for free energy conversion, information transfer and the performance of specific physical and chemical processes.
Cell Adhesion Molecules and Human Disorders
Authors: Müller Ulrich
Published: September 2006

Cell adhesion molecules are cell surface receptors that promote cell–cell and cell–extracellular matrix interactions. Mutations in genes encoding cell adhesion molecules cause inherited disorders affecting many organs such as the skin, kidney and muscle, and the immune and nervous systems.
Prion Disorders
Authors: Aguzzi Adriano
Published: September 2006

Prion diseases are neurodegenerative conditions that, in contrast to Alzheimer, Parkinson and other neurodegenerative diseases, are transmissible from one individual to another. The infectious agent causing prion diseases has been proposed to consist exclusively of a protein. The exact mechanism by which the agent replicates is still unclear.
Human Leukocyte Antigen (
HLA
) System and Human Disorders
Authors: Rhodes David A
Published: September 2006

The major histocompatibility complex has been studied in depth because it is associated with more human disorders than any other region of comparable size in the human genome. In addition to the human leukocyte antigen (HLA) genes, the MHC contains a diverse array of polymorphic genes, many of which are involved in modulating the immune response to pathogens.
Human Genome Diversity Project (HGDP)
Authors: Foster Morris W
Published: September 2006

The Human Genome Diversity Project was proposed as a public project to collect and analyze DNA samples from diverse human populations. While never realized as an actual DNA collection, the investigation of human genetic variation largely has been taken over by more biomedically oriented initiatives.
Children in Genetic Research
Authors: Alderson Priscilla
Published: September 2006

Genetic research offers potential benefits and harms to children. Respect for children's individual and collective best interests includes involving children as much as possible in making decisions about genetic research that affects them.
Human Genome Project, HUGO and Future Health Care
Authors: van Ommen Gert‐Jan B
Published: September 2006

The Human Genome Project and the publication of the human genome sequence have opened the possibility of an entirely new approach to healthcare, based on the genotype of the individual. However, this approach is fraught with ethical problems, among them the risk of widening the gap between haves and have‐nots both globally and within any one country.
Community Consent for Genetic Research
Authors: Weijer Charles
Published: September 2006

Protections for research subjects are traditionally limited to those for individual participants. As communities are increasingly targeted for genetic research, new protections, including in some cases seeking informed consent from those communities, must be developed.
Genetic Testing of Children: Parental Requests
Authors: Gardner Jessica
Published: September 2006

Legal and ethical problems surface in relation to parental requests for genetic testing that offer no direct or immediate benefit to the child. Parents have a responsibility for the care of their children, rather than having rights over them; any decision made regarding the health of their child must be in the best interests of that child.
In Vitro
Fertilization: Regulation
Authors: Morgan Derek , Ford Mary
Published: September 2006

The development of
in vitro
fertilization techniques has prompted the development of several regulatory responses. International harmonization brings with it both possibilities and problems.
Ownership of Genetic Material and Information
Authors: Laurie Graeme
Published: September 2006

The legal position on ownership of genetic material is a complex issue. The ethical issues surrounding the application of property rights to human genetic material also have to be considered.
Genetic Disability and Legal Action: Wrongful Birth, Wrongful Life
Authors: Davis Dena S
Published: September 2006

Parents of children born with birth defects can successfully sue health professionals for the tort of wrongful birth if they can claim that the child's birth was due to the negligence of the professional. The tort of wrongful life stems from the same series of events, but is brought by the child rather than the parent.
Genetic Testing of Children: Capacity of Children to Consent
Authors: Montgomery Jonathan
Published: September 2006

The capacity of children to consent to genetic testing is a complex area of debate, involving issues beyond mere questions of age.
Data Protection Legislation
Authors: Holm Søren
Published: September 2006

Data protection legislation regulates the acquisition, storage, transfer and processing of personal data of all kinds. Human genetic information, whether in digital form or in tissue samples, is by definition personal data and its use will therefore in many cases be governed by data protection legislation.
Informed Consent: Ethical and Legal Issues
Authors: Holm Søren
Published: September 2006

Informed consent from research participants is a necessary legal and ethical requirement for human genetics research. Valid informed consent relies on giving full information and on the capacity of research participants to consent.
Informed Consent
Authors: Knoppers Bartha M , Avard Denise
Published: September 2006

New advances in genetic testing for health and medical purposes raise new concerns, including the predictive value of the genetic information, the disclosure of the results of genetic tests to individuals and families, and the issues of storage and future use of genetic information and ownership. In order to protect the interests of patients, individuals and communities, policy responses are needed.
Health Care and Health Insurance in the United States
Authors: Mehlman Maxwell J
Published: September 2006

The USA relies on a private health insurance system, supplemented by government programs covering discreet populations. This creates numerous distortions in access to health care and concerns about the risk of discrimination based on the results of genetic testing.
Genetic Information, Genetic Testing, and Employment
Authors: McGleenan Tony
Published: September 2006

Genetic technology can provide information that is predictive of the future health status of an individual. Employers and insurers usually seek access to any information that indicates an increased risk of ill health. This has given rise to fears that genetic information may be used to discriminate against some people.
Disability: Stigma and Discrimination
Authors: Scully Jackie Leach
Published: September 2006

A key justification for research into the human genome is that it will increase medical knowledge and thus help to prevent disability. But the potential for genetics to be misused to increase the stigma of disability and discrimination against people with impairments demands a critical examination of our beliefs about disability, normality, human diversity and the limits to medicine.
Disability: Western Theories
Authors: Barnes Colin
Published: September 2006

The theoretical underpinnings of conventional, individualistic medical conceptions of disability have recently been challenged by various sociopolitical approaches rooted in the collective experiences of disabled people and their organizations. An understanding of these perspectives is essential for the future development of genetic medicine and genetic interventions as solutions to the problems of disablement.
Disability, Human Rights and Contemporary Genetics
Authors: Shakespeare Tom
Published: September 2006

Disabled people are often hostile toward prenatal screening and preimplantation diagnosis. They fear eugenics and discrimination.
Disability: Diagnostic Labeling
Authors: Watson Nick
Published: September 2006

Diagnostic labeling of people as ‘disabled’ can affect the individual's sense of identity and self. The values that the rest of society attaches to such labels need to be challenged. Many diagnostic labels referring to disability are applied by medical professionals, but it is their impact on the disabled person as they interact with other people in their lifeworld that are of central concern. Being labeled as a disabled person or as one who has an impairment can affect relationships both with those in one's immediate circle of acquaintances, such as those in domestic or work environments, and with those who are met in more casual relationships.
Mentally Handicapped in Britain: Sexuality and Procreation
Authors: McCarthy Jane , Sinason Valerie , Hollins Sheila
Published: September 2006

Ethical and social issues surround the issue of sexuality and parenting for people with learning disabilities.
Genetics and the Control of Human Reproduction
Authors: Gosden Christine M
Published: September 2006

Advances in infertility treatments, assisted conception and genetics include fertilization
in vitro
, microinjection of sperm into eggs, use of donor gametes and cloning. These technological advances have raised moral, ethical and human rights issues about the regulation of embryo research, reproductive and therapeutic cloning, and stem cell and infertility treatment, in the context of national and international legislation.
In Vitro
Fertilization
Authors: Boivin Jacky
Published: September 2006

In vitro
fertilization in combination with preimplantation genetic diagnosis (IVF‐PGD) is a technique that helps couples avoid transmitting a genetic disorder to their offspring. Couples using IVF‐PGD react to treatment and subsequent pregnancy and parenthood as do couples using IVF for fertility problems.
Interests of the Future Child
Authors: McLean Sheila AM
Published: September 2006

In most countries it is permissible to make certain choices about whether to establish a pregnancy or continue with it based on the likely characteristics of the future child. Commitments to future generations may increasingly impact on the reproductive decisions made by prospective parents.
Kinship in Flux
Authors: Strathern Marilyn
Published: September 2006

Kinship is of renewed significance in an era when new reproductive technologies have rendered negotiable what was once considered immutable. The value placed on genetic knowledge has given rise to a host of new interpretations, both popular and scientific, of the composition of reproduction and relatedness.
Preimplantation Genetic Diagnosis: Ethical Aspects
Authors: Munthe Christian
Published: September 2006

In preimplantation genetic diagnosis, genetic traits of embryos are detected before the initiation of pregnancy. Although tampering with embryos is morally controversial, this procedure may seem to reduce ethical problems in prenatal diagnosis by offering the possibility of selecting offspring, on the basis of genetic information, more efficiently and without any need to consider abortion. However, counseling of patients becomes more complicated, and the procedure may seem to make the outside influence of their decisions easier to both achieve and justify. As a consequence, preimplantation genetic diagnosis raises concerns about the connection between the preselection of children on genetic grounds and the discrimination of disabled people. Moreover, it introduces the new ethical problem of whether or not the selection of future children on the basis of nonpathological traits should be acceptable practice.
Schizophrenia and Bipolar Disorder: Linkage on Chromosomes 5 and 11
Authors: Maziade Michel , Palmour Roberta , Phaneuf Daniel , Mérette Chantal , Roy Marc‐André
Published: September 2006

Two premature claims of linkage on chromosomes 5 and 11 for schizophrenia (SZ) and bipolar affective disorder (BP) were reported inNaturein the late 1980s. Although the findings failed to be replicated, accumulated knowledge from the results of the first generation of molecular genetic studies of SZ and BP sets the basis for a promising second generation of studies.
Genetic Isolates and Behavioral Gene Searches
Authors: Pato Carlos N , Schindler Kim M , Pato Michele T
Published: September 2006

Genetically isolated populations, created via physical isolation, founder effect and ethnic inbreeding, help to create relatively more homogeneous study populations. In the study of disorders of multifactorial and multiple gene effects, use of such populations should allow for enhanced identification of susceptibility genes by limiting genetic heterogeneity.
Anticipation
Authors: O'Donovan Michael
Published: September 2006

The phenotype of many inherited disorders tends to become progressively more severe and/or be expressed at a younger age as it is transmitted to successive generations of a pedigree. This phenomenon is called anticipation and has been reported to occur widely in the principal functional psychoses (schizophrenia and bipolar disorder), although it is possible that these findings are attributable to sampling biases.
Velocardiofacial Syndrome (VCFS) and Schizophrenia
Authors: Murphy Kieran C
Published: September 2006

Velocardiofacial syndrome, the most frequent known interstitial deletion found in humans, is associated with high rates of psychiatric disorder, particularly schizophrenia.
Alcoholism and Drug Addictions
Authors: Prescott Carol A
Published: September 2006

Evidence from family, twin and adoption studies indicates that genetic variation contributes to individual differences in risk for addiction to alcohol, tobacco and illicit drugs, and may contribute to comorbidity of addictions with other psychiatric disorders. Molecular genetic studies with animals and humans are helping to identify specific genes involved in drug‐seeking behavior, which may improve understanding of the etiology of addictions and lead to new pharmacological treatments.
Epigenetics: Influence on Behavioral Disorders
Authors: Petronis Arturas
Published: September 2006

Epigenetic modifications of the genome are critically important for normal functioning of a cell. In addition to DNA sequence variation, which has been the primary research target in human morbid biology, epigenetic dysregulation of genes may represent a fundamental mechanism of human diseases.
Electroencephalogram (EEG) and Evoked Potentials
Authors: Stassen Hans H
Published: September 2006

Analysis of the basic properties of brain waves and evoked potentials allows one to decompose the information contained in the electroencephalogram into a genetically determined static component and a dynamic component that reflect interactions with and reactions to the immediate environment. This approach is useful for the definition of endophenotypes and for studying the dynamic properties of brain waves.
Slater, Eliot Trevor Oakeshott
Authors: Gottesman Irving I
Published: September 2006

Eliot Trevor Oakeshott Slater (1904–1983) was an English psychiatrist and genetic researcher, founding editor of the
British Journal of Psychiatry
, and founder of the first Medical Research Council Psychiatric Genetics Unit.
Vandenberg, Steven G
Authors: Zonderman Alan B
Published: September 2006

Steven G. Vandenberg (1915–1992) was a pioneer in the study of twins.
Intelligence and Cognition
Authors: Plomin Robert , Galsworthy Michael J
Published: September 2006

Intelligence and cognition refer to the various mental processes by which we learn, reason and comprehend.
Twin Studies
Authors: Trumbetta Susan L
Published: September 2006

Twin studies that compare monozygotic with dizygotic twin pairs for their level of phenotypic similarity have long provided useful estimates of the relative influences of genetic and environmental factors on phenotypic variability in the population. Variations on the classic twin study, such as twins reared apart, co‐twin control and children‐of‐twins designs, may provide additional clues to the effects of specific environments and of gene‐by‐environment interactions in the expression of certain phenotypes.
Personality and Temperament
Authors: Nigg Joel T , Goldsmith H Hill
Published: September 2006

Temperament is an early‐developing set of characteristics related to later personality. Personality includes a range of traits, including major traits of extraversion, neuroticism and impulsivity/sensation‐seeking. Both behavioral genetic (twin and adoption) and molecular genetic research (emphasizing dopamine‐ and serotonin‐related genes) have contributed to the understanding of major traits of temperament and personality.
Psychoses
Authors: Moises Hans W
Published: September 2006

Psychoses are serious psychiatric disorders characterized by the inability to differentiate reality from unreality. Major symptoms are disorganized thoughts, delusions, hallucinations, and persistent profound sadness or euphoric mood without apparent reason.
Bioinformatics
Authors: Makalowski Wojciech
Published: September 2006

Bioinformatics may be defined as the development and/or application of computational tools and approaches for expanding the use of biological data, including those to acquire, store, organize, archive, analyze or visualize such data.
Nucleotide Sequence Databases
Authors: Lewitter Fran
Published: September 2006

There are internationally available databases containing nucleotide data. These resources are useful for investigating basic and advanced research problems.
BLAST Algorithm
Authors: Altschul Stephen F
Published: September 2006

BLAST is an acronym for basic local alignment search tool; the BLAST family of database search programs takes as input a query DNA or protein sequence, and search DNA or protein sequence databases for similarities that may indicate homology. The programs implement variations of the BLAST algorithm, which is a heuristic method for rapidly finding local alignments with scores sufficiently high to be statistically significant.
Dynamic Programming
Authors: Chen Ting , Waterman Michael
Published: September 2006

Dynamic programming is an optimization technique used in mathematics and computer science. It solves problems by recursively solving the subproblems that have overlapping substructures and then combining the solutions to these subproblems.
Sequence Assembly
Authors: Meidanis Joao
Published: September 2006

Any shotgun DNA sequencing effort involves a first phase in which short, contiguous samples of a long DNA molecule are generated. These samples must be assembled afterwards to yield the original sequence in a process called sequence assembly.
Similarity Search
Authors: Pearson William R
Published: September 2006

Protein and DNA similarity searches are used to find sequences that are likely to be homologous. Homologous sequences diverged from a common ancestor; when two sequences share statistically significant similarity (much more than would be expected by chance), the most parsimonious explanation for the excess similarity is homology. The most effective similarity searches use protein or translated‐DNA : protein comparisons.
Substitution Matrices
Authors: Altschul Stephen F
Published: September 2006

A substitution matrix is a collection of scores for aligning nucleotides or amino acids with one another. These scores generally represent the relative ease with which one nucleotide or amino acid may mutate into or substitute for another, and they are used to measure similarity in sequence alignments.
Neural Networks
Authors: Wu Cathy H , McLarty Jerry W
Published: September 2006

Artificial neural networks are a form of machine learning, inspired by biological neural networks, which can be trained by examples to recognize patterns, classify data and make predictions.
Protein Homology Modeling
Authors: Peitsch Manuel C , Schwede Torsten , Diemand Alexander , Guex Nicolas
Published: September 2006

Protein homology modeling is the prediction of the three‐dimensional structure of proteins by comparative methods that use the known three‐dimensional structure of related proteins. This method will play a major role in the functional analysis of the genes (and their protein transcripts) discovered in fully sequenced genomes.
RNA Tertiary Structure Prediction: Computational Techniques
Authors: Major François , Gendron Patrick
Published: September 2006

Ribonucleic acid (RNA) tertiary structure prediction is an activity that consists of inferring complete sets of atomic coordinates of RNAs, in Euclidean space, on the basis of observation, knowledge or construct. The principal goal of prediction is to obtain precise RNA tertiary structures and, thus, to reduce the costs of the discovery process by offering to scientists new possibilities to design efficient pinpoint experiments to decipher RNA function.
Transcription Factors
Authors: Latchman David S
Published: September 2006

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 signaling pathways.
Chromatin Structure and Domains
Authors: Bickmore Wendy A
Published: September 2006

Chromatin is formed from the interaction of deoxyribonucleic acid (DNA) with nuclear proteins. The formation of chromatin both compacts the DNA molecule and regulates genome function and gene expression.
Gene Expression Networks
Authors: Rockett John C , Dix David J
Published: September 2006

‘Gene expression network’ is the term used to describe the interplay, simple or complex, between two or more gene products in performing a specific cellular function. Although the delineation of such networks is complicated by the existence of multiple and subtle types of interaction between gene products, the use of high‐throughput functional genomics techniques and mathematical modeling provides a powerful approach to deciphering expression networks and revealing the molecular mechanisms of cell growth and function.
Telomeres: Protection and Maintenance
Authors: de Lange Titia
Published: September 2006

Eukaryotic chromosomes terminate in telomeres, nucleoprotein complexes thought to mask chromosome ends from the machinery that detects and repairs damaged deoxyribonucleic acid (DNA). The maintenance of this protective telomeric cap requires a specialized mode of DNA synthesis, because chromosome duplication results in incomplete replication of DNA ends. Proteins associated with the telomeric DNA sequence at chromosome ends execute and regulate the maintenance and protection functions of telomeres.
DNA Recombination
Authors: Takeda Shunichi , Yamazoe Mitsuyoshi
Published: September 2006

DNA recombination plays an essential role both in generating genetic diversity during lymphocyte development and meiosis and in maintaining genome stability through DNA double‐strand break repair. In DNA recombination, two broad classes are commonly recognized: general recombination and site‐specific recombination.