bluuebunny/crossref_metadata_2025 huggingface dataset:
XenopusEmbryo: Mesoderm Induction
Authors: Dale Leslie
Published: September 2006

A review of our current knowledge of mesoderm formation in amphibian embryos emphasizes the importance of the transforming growth factor‐β family of extracellular signalling molecules.
Caenorhabditis elegans
Vulval Induction
Authors: Sternberg Paul W
Published: September 2006

Study of
Caenorhabditis elegans
vulval development has improved our understanding of inductive signalling and pattern formation at the single cell level, and has led to the definition of signalling cascades. Studies of signal transduction during vulval development have led to the discovery of what is considered a universal signalling pathway from growth factor receptor to RAS to MAP kinase to the nucleus, and the discovery of the LIN‐12/Notch family of receptors that mediate lateral signalling.
Semaphorins
Authors: Pasterkamp R Jeroen
Published: September 2006

The semaphorins are a family of intercellular signalling proteins known to deliver guidance cues to growing axons and migrating cells during development. Semaphorins bind with high affinity to several distinct receptor families, including the neuropilins and plexins.
DrosophilaPatterning: Delta–Notch Interactions
Authors: Desbordes Sabrina , López‐Schier Hernán
Published: September 2006

Canonical and noncanonical activities of the Notch receptor combine to pattern tissues and organs inDrosophila melanogaster.
Kidney and Renal Tract: Developmental Disorders
Authors: Grünfeld Jean‐Pierre , Salomon Rémi
Published: September 2006

Kidney and urinary tract developmental disorders represent one of the most common groups of malformations, corresponding to approximately 30% of all malformations detected by antenatal ultrasonography in humans.
Ephrins
Authors: Klein Rüdiger
Published: September 2006

Ephrins are cell surface‐associated or transmembrane proteins, which can bind via their extracellular domain members of the Eph receptor tyrosine kinases. Ephrin–Eph interactions can trigger a variety of responses, including patterning of embryonic structures, axon and cellular guidance and neuronal plasticity.
Ribosomal Proteins: Role in Ribosomal Functions
Authors: Wilson Daniel N , Nierhaus Knud H
Published: September 2006

The assignment of specific ribosomal functions to individual ribosomal proteins is difficult due to the enormous cooperativity of the ribosome; however, important roles for distinct ribosomal proteins are becoming evident. Although ribosomal ribonucleic acid (rRNA) has the major claim to certain aspects of ribosome function, such as decoding and peptidyl‐transferase activity, the contribution of ribosomal proteins is nevertheless essential for the assembly and optimal functioning of the ribosome, this is particularly true in the context of interactions at both the binding site for translation factors and the tunnel exit for both chaperones and complexes associated with protein transport through membranes.
Evolutionary Developmental Biology: Hox Gene Evolution
Authors: Manzanares Miguel , Krumlauf Robb
Published: September 2006

Hoxgenes are clustered homeobox‐containing genes present in all metazoans, with an evolutionarily conserved function in conferring positional identity along the main body axis in bilaterians.
B‐lymphocyte Activation
Authors: Khan Mamnunur , Turner Martin
Published: September 2006

B‐lymphocyte activation is initiated by the binding of antigen to the B‐cell receptor (BCR), which leads to an intricate web of downstream intracellular signalling events that ultimately results in a specific immune response. Breakdown in any of the multiple signalling cascades controlling B‐lymphocyte activation can result not only in impaired B‐cell development and immunodeficiency, but also in a predisposition to autoimmunity and malignancy.
Vertebrate Embryo: Patterning the Neural Crest Lineage
Authors: Kalcheim Chaya
Published: September 2006

Neural crest cells form as epithelial progenitors during the process of neurulation, then undergo an epithelio‐mesenchymal transition and become motile. These mesenchymal cells migrate through stereotypical pathways, reach their homing sites and differentiate into a large variety of neural and nonneural derivatives.
Cleavage and Gastrulation in Avian Embryos
Authors: Stern Claudio D
Published: September 2006

Avian embryos differ from those of other vertebrates in several respects – among them, they have a large mass of yolk, the cells initially divide meroblastically, and the embryo has great ability to regulate until very late stages of development. After about 20000 cells have been generated, gastrulation begins. This process establishes the three axes of the future embryo (head–tail, dorsoventral and left–right), and many cell fates become fixed.
Evolutionary Developmental Biology: Developmental Bias and Constraint
Authors: Arthur Wallace
Published: September 2006

Developmental trajectories can be more readily altered in some ways than others by mutations in the genes that govern them. This is developmental bias. Both positive and negative biases are possible: these can be called, respectively, developmental drive and developmental constraint. These processes may have major effects on the direction of evolutionary change.
Axon Guidance
Authors: Piper Michael J , Keynes Roger J , Cook Geoffrey MW
Published: September 2006

Axon guidance is the means whereby axon processes growing from differentiating nerve cells are guided to their targets during embryonic development.
Transitions between Major Classes: Vertebrates
Authors: Sumida Stuart S , Devlin Kathleen R
Published: September 2006

The advent of cladistic analyses of relationships between organisms has provided more rigorous means of defining lineages, although fossil records suggest that boundaries between vertebrate clades are not always distinct.
Algae: Phylogeny and Evolution
Authors: Moestrup Øjvind
Published: September 2006

Ideas on the phylogeny and evolution of the algae are presently based on a combination of ultrastructural, biochemical and molecular data. Following the discovery that chloroplasts of eukaryotic algae arose after one or more symbiotic events, the term algae is now used as a colloquial term for primitive plants, including both prokaryotic and eukaryotic species.
Algal Eyes
Authors: Hegemann Peter
Published: September 2006

‘Vision’ is defined in a very general sense as recognition of the ambient light pattern by a motile organism and its use for orientation in a local environment. The ‘eye’ is the organ or organelle in which the light absorption and transformation into a transient intracellular signal occurs.
NeurosporaGenetics
Authors: Davis Rowland H
Published: September 2006

Neurospora crassais a filamentous fungus of the class Ascomycetes. It is a genetically well‐understood organism used in the original work that defined the relationship between genes and enzymes.
Actinomycete Spores
Authors: Locci Romano
Published: September 2006

Among bacteria, actinomycetes are a morphologically distinct group that forms multinucleated filaments instead of single cellular units. Within this quantitatively small realm however, the organisms are characterized by a wide range of morphological patterns of development, the variety of dispersal propagules (spores or conidia) produced and their genesis.
Endosymbionts
Authors: Jeon Kwang W
Published: September 2006

Endosymbionts are small symbiotic partners living inside a host organism, and they may live within the host's cells (intracellular) or outside cells (extracellular) in a multicellular host. A symbiotic relationship may be parasitic (one partner harming the other), commensal (usually not affecting each other) or beneficial (unilaterally or mutually).
Retroviral Replication
Authors: Pedersen Finn Skou , Duch Mogens
Published: September 2006

Retroviruses are enveloped animal ribonucleic acid (RNA) viruses that replicate via a deoxyribonucleic acid (DNA) intermediate, which is integrated into host cell chromosomal DNA. Expression of viral RNA and proteins from the DNA intermediate utilizes the normal transcription and translation machinery of the host.
Microorganisms
Authors: Hayward Chris A
Published: September 2006

An organism that is too small to be seen with the naked eye requiring the use of a light or electron microscope. They consist of single cells or cell clusters; also including the viruses that are microscopic but not cellular. Cellular microorganisms include the prokaryotes (Bacteria and Archaea) and some unicellular plant‐like and animal‐like eukaryotes and some fungi. Many can be cultivated in artificial medium using special techniques.
Virus Diseases of Cereals
Authors: Plumb Roger T
Published: September 2006

World food supply depends on cereals; wheat, maize (corn in the USA), rice, barley, sorghum, oats, millet and rye provide much of the world's food and drink. Many different viruses cause diseases and yield loss on these crops.
Potexviruses and Carlaviruses – Short Filamentous Viruses
Authors: Brunt Alan
Published: September 2006

Potexviruses and carlaviruses are plant‐infecting viruses; they have slightly flexuous filamentous particles containing 93–95% protein and 5–7% single‐stranded ribonucleic acid (ssRNA) and similar genomic organizations.
Caliciviruses
Authors: Neill John D
Published: September 2006

The
Caliciviridae
is a family of small, nonenveloped viruses containing a single‐stranded, plus‐sense genomic ribonucleic acid (RNA) that is polyadenylated at its 3′‐end. Most caliciviruses have distinctive cup‐shaped depressions (L.
calix
, cup) on their surface, giving them their characteristic ‘Star of David’ appearance. These viruses have a large and diverse host range and cause diseases of both human and veterinary importance.
Hepatitis Delta Virus
Authors: Taylor John M
Published: September 2006

Several viruses are important causes of acute and chronic infections of the human liver.
Hepatitis delta virus
is a most unusual agent that is found only in association with
Hepatitis B virus
.
Parainfluenza Viruses
Authors: Takimoto Toru
Published: September 2006

Parainfluenza viruses are enveloped viruses that contain nonsegmented negative‐strand genomic ribonucleic acid (RNA). These viruses are one of the greatest single causes of respiratory tract infections.
Leishmania
Authors: Bates Paul A
Published: September 2006

Leishmania
species are parasitic protozoa that cause the human tropical disease leishmaniasis. The parasites are transmitted by the bites of phlebotomine sandflies, and live as intracellular parasites inside macrophages.
Tetrahymena
Authors: Frankel Joseph
Published: September 2006

Tetrahymena
is a genus of mostly free‐living ciliated protozoa that is intensively employed to investigate and solve fundamental problems in molecular, cellular and developmental biology.
Viroids
Authors: Flores Ricardo , Daròs José‐Antonio , Hernández Carmen , Di Serio Francesco
Published: September 2006

Viroids are infectious small circular ribonucleic acids able to induce specific diseases in higher plants. They differ from viruses in fundamental aspects like structure, function and evolutionary origin.
Circadian Rhythms in Cyanobacteria
Authors: Johnson Carl Hirschie , Golden Susan S
Published: September 2006

Cyanobacteria are prokaryotes that express circadian (daily) rhythms. In rhythmic environments, the fitness of cyanobacteria is improved when this clock is operational and when its circadian period is similar to the period of the environmental cycle. In cyanobacteria, three key proteins form a core molecular clockwork that orchestrates global gene expression and can reconstitute an oscillator
in vitro
. The three‐dimensional structures of these proteins have been determined.
Algal Flagella
Authors: Dutcher Susan K
Published: September 2006

Flagella are extremely complex machines that must assemble over 300 components and coordinate their functions. The molecular motors dynein and kinesin are found in the flagella and are believed to be necessary for the generation of a waveform. Algal flagella bend with a characteristic waveform in order to propel the cells through liquid.
Spirochaetes
Authors: Wang Guiqing , Schwartz Ira
Published: September 2006

The spirochaetes are helically shaped or wave‐like, motile bacteria whose phylogenetic relationships are evident at the level of gross phenotypic characteristics. They are easily recognizable by their morphological properties, and possess some genomic features that are unique among the prokaryotes.
Phytoplankton
Authors: Vaulot Daniel
Published: September 2006

Phytoplankton is defined as free‐floating unicells and colonies that grow photo‐autotrophically in aquatic environments. Phytoplankton plays a key role in the primary production and global elemental cycles of the Earth.
Vesicular Stomatitis Virus
Authors: Pringle Craig R
Published: September 2006

Vesicular stomatitis virus (VSV) is the prototype rhabdovirus. It is an important animal pathogen that causes a disease, which is difficult to differentiate clinically from that caused by foot‐and‐mouth disease virus. Its broad host range, rapid lytic growth cycle, unique morphology and susceptibility to interferon have all contributed to its popularity as a model system in experimental virology. VSV has been employed frequently for the rapid assay of other more fastidious viruses or for detection of noncytopathogenic viruses exploiting the phenomenon of pseudotype formation. Coinfection of the rapidly cytolytic VSV and a noncytolytic enveloped virus, such as human immunodeficiency virus (HIV), generates an appreciable frequency of pseudotype particles in which infectious VSV nucleocapsids are enveloped by the envelope proteins of HIV. The yield of cytolytic virus after exposure to high‐titre anti‐VSV serum can detect and quantitate the presence of noncytolytic (e.g. HIV) virus.
Rhabdoviruses
Authors: Pringle Craig R
Published: September 2006

The viruses classified in the family
Rhabdoviridae
have monopartite, negative‐sense, single‐stranded ribonucleic acid (RNA) genomes, 11–15 kb in size; the virions have helical nucleocapsids contained within bullet‐shaped or bacilliform enveloped particles. Rhabdoviruses infect animals, plants and invertebrates; some rhabdoviruses multiply in both invertebrates and vertebrates, and others in both invertebrates and plants, but none multiply in all three hosts. The family includes several viruses responsible for considerable economic losses in agriculture and commercial fisheries;
Rabies virus
is the most significant human pathogen.
Proteobacteria
Authors: Kersters Karel , De Vos Paul , Gillis Monique , Swings Jean
Published: September 2006

The Proteobacteria constitute one of the major lineages (phyla) within the domain of the Bacteria. Although these Gram‐negative bacteria are phylogenetically related, they are physiologically, morphologically and ecologically extremely diverse. They are of great biological importance because they include various pathogens of humans, animals and plants, as well as a number of taxa that play key roles in the carbon, sulfur and nitrogen cycles on our planet.
Archaeal Membrane Lipids
Authors: Patel Girish B , Sprott G Dennis
Published: September 2006

Membrane lipids of
Archaea
are unique and distinct from those found in
Eukarya
and
Bacteria
. The polar lipids consist of isopranoid chains, 20–40 carbons in length and usually saturated, which are attached via ether bonds to the glycerol carbons at the
sn
‐2,3 positions. The polar lipids of
Archaea
can be used to make liposomes (closed vesicles) with characteristics that are useful for applications in biotechnology.
Paramecium
Authors: Aufderheide Karl J
Published: September 2006

Members of the genus
Paramecium
(from the Greek
παραμηκησ
– oblong or oval‐shaped) are ciliated protozoa with a characteristic elongated shape (length approximately three to four times the width), a uniform distribution of cilia over the cell surface and a ciliated oral groove leading from the anterior of the cell to a mid‐ventral deep oral cavity. The oral apparatus is shaped like a funnel, with 12 rows of oral cilia in a helical array inside.
Plant Viruses with Rod‐shaped Virions
Authors: Robinson David J
Published: September 2006

Seven genera of plant viruses have rigid, rod‐shaped particles. Despite their morphological similarities these viruses have diverse molecular and biological properties, and many are important disease agents.
Entamoeba
and
Entamoeba histolytica
Authors: Diamond Louis S , Clark C Graham
Published: September 2006

Entamoeba
species are protozoa parasitizing all classes of vertebrates and a few invertebrates. Two species,
Entamoeba histolytica
, a parasite of humans, and
E. invadens
, a parasite of reptiles, are capable of causing severe illness and death of the host.
Genetic Variation: Polymorphisms and Mutations
Authors: Wright Alan F
Published: September 2006

The amount of sequence variation in different regions of the human genome varies by an order of magnitude. Mutations give rise to all variation, but their survival in the genome is influenced by many factors including effects on reproductive fitness, human population history, chromosomal location and recombination rates.
Genome Size
Authors: Venkatesh B
Published: September 2006

Genome sizes of organisms vary widely between and within different phylogenetic groups. Factors contributing to the genome sizes are duplication of a part or the whole of the genome, insertions, spread of repetitive elements and deletion of part or whole chromosomes.
mRNA Untranslated Regions (UTRs)
Authors: Pesole Graziano
Published: September 2006

Eukaryotic messenger ribonucleic acids (mRNAs) possess a tripartite structure that comprises a 5′ untranslated region, a coding region made up of the amino acid coding triplet codons and a 3′ untranslated region. During nuclear maturation of primary transcripts, both ends of mRNA are posttranscriptionally modified through the addition of a 7‐methyl‐guanosine cap structure at the 5′ end and a polyadenosine tail at the 3′ end.
5′ UTRs and Regulation
Authors: Mignone Flavio , Pesole Graziano
Published: September 2006

The 5′ untranslated region consists of the leading part of a cellular mRNA from the 5′ end to the translation start codon AUG. The 5′ end of the precursor mRNA is posttranscriptionally modified by the removal of introns and the addition of a 7‐methyl‐guanilate cap structure, which has a crucial role in translation initiation and in regulating transcript stability.
Chromosomes 21 and 22: Gene Density
Authors: Saccone Salvatore , Bernardi Giorgio
Published: September 2006

Isochores are long DNA segments that are fairly homogeneous in base composition. The GC‐richest and GC‐poorest isochores of the genomes from warm‐blooded vertebrates are characterized by the highest and the lowest gene concentrations respectively. Chromosomes 21 and 22 can be used to show some properties of both the GC‐richest and GC‐poorest isochores of the human genome.
Chromosomes 21 and 22: Comparisons
Authors: Dunham Ian
Published: September 2006

The size, patterns in base composition and gene density, number and kind of genes, disease association and trisomy are compared in chromosomes 21 and 22.
GAS5
Gene
Authors: Hirose Tetsuro , Steitz Joan A
Published: September 2006

GAS5
(growth arrest‐specific 5) is a nonprotein‐coding small nucleolar ribonucleic acid (snoRNA) host gene. Ten box C/D snoRNAs are encoded within the 11 introns of the human
GAS5
gene, while the spliced exons have little protein‐coding potential.
GAS5
has been classified as a member of the 5′ oligopyrimidine tract (5′ TOP) gene family. It is ubiquitously expressed, but the spliced
GAS5
transcript is rapidly degraded in proliferating cells. Growth‐dependent translation mediated by the 5′ TOP sequence present at its 5′ terminus determines the level of the
GAS5
spliced transcript by a mechanism of translation‐linked RNA degradation.
Duchenne Muscular Dystrophy (
DMD
) Gene
Authors: Davies Kay , Fernihough Janet
Published: September 2006

The cloning of the Duchenne muscular dystrophy gene, encoding the protein dystrophin, led to greater understanding of the disease pathogenesis. Studies of dystrophin associated and related proteins has led to a better understanding of other muscular dystrophies and the development of novel approaches to therapy.
Titin (
TTN
) Gene
Authors: Labeit Siegfried , Centner Thomas , Witt Christian , Labeit Dietmar , Granzier Henk
Published: September 2006

Muscle sarcomeres contain several thousand precisely assembled and tuned proteins that give rise to efficient muscle contraction. Titin is a multifunctional filamentous protein, in charge of sarcomeric assembly and turnover, and providing long‐range elasticity.
Intronless Genes
Authors: Doenecke Detlef , Albig Werner
Published: September 2006

Most eukaryotic protein‐coding genes are composed of exon and intron sequences. Intron derived sequences within primary transcripts are eliminated by ribonucleic acid (RNA) splicing. A small number of protein‐coding genes are intronless; their primary transcripts are processed at their 5′ and 3′ ends like other premessenger RNAs, but no splicing is needed. Examples of intronless genes are genes for histone and interferon.
Promoters
Authors: Smale Stephen T
Published: September 2006

A promoter is a segment of a gene of about 100–400 base pairs that comprises the transcription initiation site and a collection of short deoxyribonucleic acid (DNA) sequences that bind proteins involved in regulating transcription. The proteins that bind to the promoter mediate the recruitment of a ribonucleic acid (RNA) polymerase to the initiation site and play a major role in dictating when, and in which cells, the gene is expressed.
Chromosome‐specific Repeats (Low‐copy Repeats)
Authors: Potier M‐C , Golfier G , Eichler EE
Published: September 2006

Low copy repeats or segmental duplications are duplicated blocks of genomic DNA ranging in size from 1 to 200 kb. They result from interchromosomal or intrachromosomal duplications.
Matrix‐associated Regions (MARs) and Scaffold Attachment Regions (SARs)
Authors: Razin Sergey V
Published: September 2006

Matrix‐associated regions and scaffold attachment regions are eukaryotic deoxyribonucleic acid sequence elements that can selectively bind isolated nuclear matrix in the presence of a vast excess of competitor prokaryotic DNA. They are thought to participate in chromatin loop anchorage to the nuclear matrix, although this supposition lacks direct experimental proof.
m
RNA
Editing
Authors: Sansam Christopher L , Emeson Ronald B
Published: September 2006

The editing of messenger RNA transcripts respresents a recently identified processing event by which multiple RNA transcripts can be generated from a single genomic locus to increase the coding potential of the human genome.
t
RNA
Authors: Goldman Emanuel
Published: September 2006

Transfer RNAs decode the genetic code and carry attached amino acids to the growing protein chain on the ribosome.
Splice Sites
Authors: Padgett Richard A , Burge Christopher B
Published: September 2006

Splice sites are the sequences that define the junctions between introns and exons in eukaryotic genes.
Gene Families
Authors: Bateman Alex , Mifsud William
Published: September 2006

The multitude of genes fall into a much smaller number of gene families. An understanding of gene families allows their evolutionary history to be traced and allows experimental results from one gene to be transferred to other related genes.
Hox
Genes: Embryonic Development
Authors: Lufkin Thomas
Published: September 2006

Four clustered gene complexes of DNA‐binding transcriptional regulators known as the
Hox
genes are the principal directors of embryonic development of the basic body structures (head, trunk and limbs).
Zinc‐finger Genes
Authors: Gell David , Crossley Merlin , Mackay Joel
Published: September 2006

The term zinc‐finger is used to describe several small protein domains in which one or more zinc ions stabilize the folded structure. Many zinc‐finger genes contain more than one zinc‐finger domain and these domains act as interaction motifs, contacting such diverse partners as other proteins, DNA, RNA or lipids.
Signal Peptides
Authors: von Heijne Gunnar
Published: September 2006

Signal peptides are parts of polypeptide chains that are used as ‘address labels’ for sorting proteins to their correct subcellular destinations.
Ribosomes and Ribosomal Proteins
Authors: Kenmochi Naoya
Published: September 2006

As the catalyst for protein synthesis, the omnipresent ribosome is essential to all organisms and is composed, in mammalian cells, of four ribosomal ribonucleic acid species and 79 different ribosomal proteins. As many as several hundred copies of the genes encoding the RNA constituents form clusters within the human genome; by contrast, the genes encoding the proteins are widely dispersed, though they are functionally related and coordinately expressed.
Long Interspersed Nuclear Elements (LINEs)
Authors: Goodier John , Kazazian Haig H
Published: September 2006

Long interspersed nuclear elements are non‐long terminal repeat retrotransposons that have reached a high copy number in the human genome by a ‘copy‐and‐paste’ mechanism of replication.
Transposons
Authors: Capy Pierre , Deragon Jean‐Marc
Published: September 2006

Genomes are highly plastic entities submitted to several types of mutations in somatic and germinal lines. These mutations can alter the general structure of the genome and also its regulation. A large proportion of these events is due to repeated and mobile sequences – the transposable elements.
Simple Repeats
Authors: Schlötterer Christian
Published: September 2006

Simple sequences (microsatellites) are a ubiquitous component of the genome of higher organisms. Their high mutation rate provides the basis for the successful use of microsatellites as genetic markers.
Minisatellites
Authors: Epplen Jörg T , Kunstmann Erdmute M
Published: September 2006

Minisatellites are tandemly arranged, repetitive deoxyribonucleic acid elements scattered throughout eukaryote and prokaryote genomes, the short basic units of which are mostly imperfectly reiterated at each locus. Although biological functions are not obvious immediately, the overwhelming variability/polymorphism of these loci has rendered them the prime targets for demonstrating genetic individuality and/or relationship analyses.
Mitochondrial Genome
Authors: Saccone Cecilia
Published: September 2006

Mitochondria are cytoplasmic organelles present in all eukaryotic cells which are able to respire. They possess their own genetic system and deoxyribonucleic acid (DNA) whose size is rather small but constant in animal cells (15–17 kilobases). The genetic content and organization of human mitochondrial DNA is common to all mammals and vertebrates. It consists of two ribosomal ribonucleic acid (RNA) genes, 13 protein‐coding genes and 22 transfer RNAs. All other mitochondrial products are coded by nuclear DNA and transported into the mitochondrion.
Evolutionary History of the Human Genome
Authors: Bernardi Giorgio
Published: September 2006

The compositional evolution of the vertebrate genome, from fishes to humans, is of very general interest because of its bearing on the role of natural selection in the evolutionary process.
Polyploid Origin of the Human Genome
Authors: Kasahara Masanori
Published: September 2006

Substantial evidence suggests that a few, most likely two, rounds of tetraploidization (whole‐genome duplication) took place close to the origin of vertebrates; hence, the human genome is polyploid.
Mitochondrial Genome: Evolution
Authors: Stoneking Mark
Published: September 2006

Mitochondria, organelles that are responsible for producing energy for cell metabolism and are also involved in cell death and aging, contain their own genome. This genome has several unusual properties, including a high copy number, a maternal and haploid mode of inheritance and a rapid rate of evolution, that make it of particular interest for reconstructing human evolution.
Humans: Archaic and Modern
Authors: Disotell Todd R
Published: September 2006

The terms archaic and modern human refer to two biologically and temporally disparate groups of humans.
Humans: Demographic History
Authors: Harpending Henry
Published: September 2006

The genome of our species preserves a record of population dynamics – changes in size and of subdivision into partially isolated demes. Genetic data have revealed that our humans arose from a small population, with as few as several thousand members, during the last interglacial period. Since then, we have spread rapidly over the earth.
DNA Markers and Human Evolution
Authors: Cann Rebecca L
Published: September 2006

Genetic markers reveal nucleotide sequence diversity at different locations and frequencies within the human genome. Since not all loci respond to the same evolutionary forces, one goal of DNA marker use is to understand how information from disparate genomic fragments can generate a realistic understanding of human population changes in space and time.
Human and Chimpanzee Nucleotide Diversity
Authors: Kaessmann Henrik
Published: September 2006

Nucleotide diversity is a measure of deoxyribonucleic acid (DNA) polymorphism in a population that is based on pairwise DNA sequence comparisons. The extent of nucleotide diversity is shaped by the mutation rate and selection but also by the demographic history of a population. Thus, studies of nucleotide diversity in humans and their closest evolutionary relative, the chimpanzee, shed light on the population history of these species.
Exons and Protein Modules
Authors: Patthy László
Published: September 2006

Modules are versatile protein domains that are frequently used as building blocks in the construction of diverse multidomain proteins. The assembly of multidomain proteins from modules is facilitated by recombination in introns flanking the exons that encode the modules, but it may also occur by recombination in exons.
Pseudoexons
Authors: Long Manyuan
Published: September 2006

A pseudoexon is a potential exon in intronic regions of pre‐mRNA that is not normally spliced into mature mRNA. It contains sequences similar to 5′ and 3′ splice‐site consensus sequences, but is not recognized by the cellular splicing machinery.
Phylogenetic Footprinting
Authors: Wasserman Wyeth W , Alkema Wynand
Published: September 2006

Phylogenetic footprinting is a method for the comparative analysis of orthologous gene sequences. Based on the expectation that sequences under selective pressure will be conserved over moderate periods of evolutionary time, phylogenetic footprinting is one means to identify gene segments with a specific function.
Mutational Change in Evolution
Authors: Graur Dan
Published: September 2006

Evolution is the process of change in the genetic makeup of populations. Two evolutionary forces are known to cause changes in gene frequencies with time: selection and random genetic drift.
Single‐base Mutation
Authors: Graur Dan
Published: September 2006

DNA sequences are normally copied exactly during the process of chromosome replication; however, new sequences are formed if errors in either DNA replication or repair occur. These errors are called mutations.
Domain Duplication and Gene Elongation
Authors: Li Wen‐Hsiung , Makova Kateryna D
Published: September 2006

A protein domain is a well‐defined region within a protein that performs a specific function. Thus duplication of a protein domain may enhance the function of the protein. The fact that many extant proteins contain duplicated domains suggests that present‐day complex proteins have evolved from simple proteins mainly via domain duplication.
Codon Usage
Authors: Moriyama Etsuko N
Published: September 2006

Genetic codes have degeneracy; that is, most amino acids (18 out of 20 in the universal genetic code) are encoded by more than one codon. Codons encoding the same amino acid are called synonymous codons. In both prokaryotic and eukaryotic genes, the synonymous codons are not used with equal frequencies.
Evolution: Neutralist View
Authors: Wagner Andreas
Published: September 2006

The neutralist view of molecular evolution maintains that the vast amount of molecular variation seen in natural populations is largely due to neutral mutations.
Nucleotide Substitution: Rate of
Authors: Li Wen‐Hsiung
Published: September 2006

The rate of nucleotide substitution in a DNA sequence is defined as the number of nucleotide substitutions per site per unit time. It is a basic quantity in the study of DNA sequence evolution.
Synonymous and Nonsynonymous Rates
Authors: Yi Soojin
Published: September 2006

When comparing protein‐coding DNA sequences between species, it is useful to distinguish between synonymous (silent) substitutions and nonsynonymous (amino‐acid changing) substitutions. Because the two types of change are under different intensities of selective constraints, comparing their rates provides insights into the mechanisms of evolution of the gene under study.
Developmental Evolution
Authors: Lindsay Susan
Published: September 2006

Development and evolution are superficially similar in that both deal with change. In the past, the study of comparative embryology was used as a powerful argument both for and against evolution. More recently, experimental approaches are being used to address questions at a molecular genetic level in both evolutionary and developmental biology studies. The data and ideas generated have led to attempts to synthesize the two disciplines that have been very fruitful, if only partially successful, to date.
Evolution: Convergent and Parallel Evolution
Authors: Stewart Caro‐Beth
Published: September 2006

Convergence and parallelism are two forms of independent evolution of similar or identical traits; they are often taken as evidence for adaptive evolution, but can also occur due to design limitations or by chance.
Coevolution: Molecular
Authors: Adkins Ronald M
Published: September 2006

Molecular coevolution is an ongoing process by which a nucleotide or amino acid substitution in one molecule increases the selective advantage of a substitution at another location in that molecule or in a completely separate molecule.
DNA
Methylation: Evolution
Authors: Razin Aharon , Shemer Ruth
Published: September 2006

The understanding of how a biological feature has evolved is limited to the existing knowledge concerning this feature and the ability to interpret the available data. In an account of evolution of DNA methylation, similarities and differences in the structure of DNA methyltransferases should be considered, as well as the diversity of methylation patterns and the variety of biological processes that involve DNA methylation.
Transposable Elements: Evolution
Authors: Eickbush Thomas H , Eickbush Danna G
Published: September 2006

Transposable elements are DNA segments that only encode the enzymatic activity necessary to make more copies of themselves. Most of the human genome is composed of inactive copies of three distinct classes of elements that have accumulated over millions of years. These classes differ in their mechanisms of integration, origins and modes of evolution.
Retrosequences and Evolution of Alu Elements
Authors: Roy‐Engel Astrid M , Batzer Mark A , Deininger Prescott
Published: September 2006

Retrosequences make up almost half of the human genome. They insert in new locations via a ribonucleic acid (RNA) intermediate and can amplify to over a million copies, as is the case for Alu elements. Although almost any transcribed RNA may undergo occasional reverse transcription and insertion into the genome, most retrosequences are limited to a few types of retroelements with high retrotransposition efficiencies. Despite these high copy numbers, the vast majority of retroelements are defective and therefore the number of active copies is generally very low; thus, the evolution of these elements follows the evolution of these few active elements with the remainder representing ‘fossils’ of the active elements at any given evolutionary time.
Concerted Evolution
Authors: Liao Daiqing
Published: September 2006

Concerted evolution is a genetic process by which repetitive DNA sequences are homogenized so that the sequence of a given multigene family within a species shares much higher sequence identity than that of the homologous gene family between two different species. Concerted evolution occurs in all living organisms, from bacteria to humans. DNA recombination mechanisms, especially gene conversion, are responsible for concerted evolution.
Globin Genes: Evolution
Authors: Hardison Ross C
Published: September 2006

Hemoglobins carry oxygen from the lungs to other tissues and are encoded by a family of globin genes that are differentially expressed during development. Defects in expression of these globin genes lead to inherited anemias called thalassemias. Other globin genes encode proteins involved in oxygen storage and other functions.
Gene Trees and Species Trees
Authors: Li Wen‐Hsiung
Published: September 2006

A species tree is a phylogenetic tree that represents the evolutionary pathways of a group of species. A gene tree is a phylogenetic tree constructed from a single gene from each of the species under study.
Ancient DNA: Phylogenetic Applications
Authors: Hofreiter Michael , Vigilant Linda
Published: September 2006

Studies of ancient human DNA attempt to shed light on the genetic relationships among individuals representing archaic or extinct human populations, and between these individuals and modern humans. These studies are limited by several factors, including the contamination of ancient samples with modern human DNA, the reliance of necessity upon a single genetic locus, the mitochondrial DNA (mtDNA) molecule, and difficulties in interpretation of results, due to the fact that modern, typically geographically defined human populations are not associated with diagnostic mtDNA sequences.
Williams Syndrome: A Neurogenetic Model of Human Behavior
Authors: Korenberg Julie R , Bellugi Ursula , Salandanan Lora S , Mills Debra L , Reiss Allan L
Published: September 2006

Williams syndrome (WMS) is a rare neurogenetic disorder, usually caused by a deletion at 7q11.23. Integrating the genetic with the distinctive clinical, cognitive, neurophysiological and neuroanatomical profiles of WMS provides an opportunity to understand the molecular basis of human cognition and behavior.
Huntington Disease
Authors: Harper Peter S
Published: September 2006

Huntington disease is a serious neurodegenerative disorder resulting from an expanded CAG repeat in a specific gene on chromosome 4. The highly specific mutation allows accurate diagnostic and predictive testing; our increasing understanding of how the expanded polyglutamine sequence in the protein huntingtin causes neuronal damage gives promise for the development of effective future therapies. Huntington disease provides a valuable model for many genetic aspects of late‐onset inherited disorders.
Schizophrenia Spectrum Disorders
Authors: Pogue‐Geile Michael F
Published: September 2006

The history, importance, and definition of schizophrenia spectrum disorders are described. Findings regarding the nature of the familial association between spectrum disorders and schizophrenia are reviewed and evaluated. Evidence does suggest that spectrum disorders may be genetically correlated with schizophrenia and thus potentially useful in efforts at identifying genes for schizophrenia liability.
Aggression and Criminal Behavior
Authors: Ebstein Richard P , Kotler Moshe
Published: September 2006

The reasons for criminal and aggressive behavior in humans are complex and include both biological and nonbiological explanations. Genes play a role in aggression, and both human and animal studies suggest that some common gene variants predispose some people to violent actions and criminality.
Sexual Orientation: Genetics
Authors: Bailey J Michael
Published: September 2006

Research into a possible genetic basis for homosexuality has suggested the role of an as yet undiscovered gene localized to the q28 region of the X chromosome. However, this suggestion is controversial for a number of reasons, and the matter is unlikely to be resolved without a considerable amount of additional research.
XYY Syndrome
Authors: Galenzoski Kerry‐Jane , Prasad Chitra
Published: September 2006

XYY is a condition associated with tall stature and occasional learning difficulties in males with an extra Y chromosome.
Dopamine D4 Receptor (DRD4) Box Score
Authors: Ebstein Richard P , Kluger Avraham N , Siegfried Zahava
Published: September 2006

Only recently has a specific genetic variant been associated with a human personality trait, Novelty Seeking. Since the first report in 1996, a number of studies have sought to replicate these first findings. This article summarizes the current status of the association between the dopamine D4 receptor (DRD4) gene and Novelty Seeking based on a recent meta‐analysis of almost four thousand subjects so far examined in molecular genetic studies.
Autism: Genetics
Authors: Cook Jr Edwin H
Published: September 2006

Autistic disorder is a highly heritable complex genetic disorder. First‐degree relatives are at increased risk for a broader phenotype of less severe impairments in social and communication development, as well as restricted and repetitive behaviors.
Informed Consent in Human Genetic Research
Authors: Reilly Philip R
Published: September 2006

Much genetic research involving human subjects is conducted to search for, or understand the role of, particular gene variants in maintaining health or causing disease. Concern that human subjects could suffer ‘informational’ harm owing to improper disclosure of research results to third parties has strongly influenced the consent process and the review of such studies by oversight committees.
Helsinki Declaration
Authors: Nicholson Richard H
Published: September 2006

The Helsinki Declaration is the most widely accepted set of ethical principles for the protection of the human subjects of medical research. Subsequent revisions have made it clear that the interests of the subject must always take precedence over the interests of science and society, but this has met considerable resistance from those involved in drug trials for licensing purposes.
de
CODE
and Iceland: A Critique
Authors: Árnason Einar , Wells Frank
Published: September 2006

deCODE Genetics Inc. is a for‐profit American corporation built around the idea of cloning and characterizing the genes of Icelanders and marketing the information so obtained. deCODE's three‐pronged plan of genomics research and commercialization in Iceland has brought into focus business practices of the genomics industry and a number of ethical issues.
Celera Genomics: The Race for the Human Genome Sequence
Authors: Fortun Michael A
Published: September 2006

The Human Genome Project always embodied multiple tensions, if not contradictions: public science and funding that seeded private sector initiatives, collaborative data sharing coexisting with competition and ownership, deliberative science and high‐throughput technological production. The events leading to the early completion of the human genome sequence, involving the corporation Celera Genomics and the public International Human Genome Sequencing Consortium, illuminate in miniature the productive but at times volatile tensions of the public‐cum‐private efforts over 10 years to map and sequence the genomes of multiple organisms.
Patenting of Genes: Discoveries or Inventions?
Authors: Gold E Richard
Published: September 2006

Patent offices have recognized that DNA sequences and genes can be patented based on the legal difference between invention and discovery. The role that patents over DNA sequences play in encouraging innovation is not clear and raises some ethical concerns.
Patent Issues in Biotechnology
Authors: Bently Lionel , Sherman Brad
Published: September 2006

In both European and US law, biotechnological products may be patented if they fulfill the normal requirements of patent law that they are novel, nonobvious and useful for industry. In practice this means that biological molecules including genes cannot be patented in themselves but that the process for extracting them can be.
Privacy: Confidentiality and Responsibility
Authors: Robson Fiona M
Published: September 2006

There may be conflict between the right of an individual to retain their genetic privacy and the right of family members who have serious claims to that information for reasons of their own health. Complex issues can be behind these difficulties for patients and practitioners in the struggle to resolve such dilemmas.
Criminal Responsibility and Genetics
Authors: Bostock Jennifer , Adshead Gwen
Published: September 2006

What potential influence would a genetic predisposition to crime have on traditional moral and legal accounts of responsibility?
Human Cloning: Legal Aspects
Authors: Morgan Derek , Ford Mary
Published: September 2006

The legal position in the United Kingdom, with regard to human cloning, is highly complex and likely to be subject to further change.
China: The Maternal and Infant Health Care Law
Authors: Guo Sun‐Wei
Published: September 2006

The Chinese Maternal and Infant Healthcare law caused much controversy in the West. Subsequent developments have seen some changes in the Chinese proposals.
Insurance and Genetic Information
Authors: McGleenan Tony
Published: September 2006

Genetic technology increases the scope for individuals to obtain predictive information about their health. Insurers argue that such information should be shared with them to enable underwriters to make an accurate assessment of risk.
Insurance and Human Genetics: Approaches to Regulation
Authors: Lemmens Trudo
Published: September 2006

The potential use of genetics for insurance purposes raises concerns about genetic discrimination. Regulatory strategies to curb genetic discrimination exist in several countries. These regulations aim at promoting a just distribution of insurance, which has multiple meanings in different social contexts, determining the potential impact of genetic discrimination.
Discrimination in Insurance: Experience in the United States
Authors: Hall Mark A
Published: September 2006

Health and life insurers may discriminate based on genetic information by classifying people as high risk or unhealthy based on genetic tests that predict future health problems, rather than on diagnosis of current illness. In the USA, the fear of genetic discrimination by insurers is much greater than the reality, especially for health insurance. However, some health insurers may raise rates or restrict coverage. Life insurers are more likely to consider results from predictive genetic tests, but this practice currently is not widespread.
Disability and Genetics: A Disability Rights Perspective
Authors: Asch Adrienne
Published: September 2006

Selecting against embryos or fetuses on the basis of predicted disability reinforces the belief that disability is inimical to a worthwhile life. A critique of preimplantation screening and prenatal diagnosis flows from the belief that life with disability can be valuable to individuals, their families and society.
Quality of Life: Human Worth Reduced to Measures of Ability
Authors: Albrecht Gary L
Published: September 2006

Evaluations of health‐related quality of life make judgments about the relative worth of individuals in society. These appraisals are made either subjectively or objectively based on ability, performance and values.
Reprogenetics: Visions of the Future
Authors: Kollek Regine
Published: September 2006

As humans acquire the capacity to modify their germ‐line DNA for purposes of enhancement, one can imagine a variety of different scenarios for the future. Some of these possible futures may have an important social context and an influence on how genetic enhancements may be socially valued.
Adoption Strategies
Authors: Corley Robin P
Published: September 2006

Adoption strategies are research designs for studying sources of variation in human behavior that require the cleavage between rearing and biological background produced by adoption. Resemblance between biologically unrelated individuals reared in the same family estimates the importance of shared experience as a source of variation in human behavior.