y

Allele An allele is one of two or more forms of a gene or a genetic locus (generally a group of genes). The form "allel" is also used, an abbreviation of allelomorph. Sometimes, different alleles can result in different observable phenotypic traits, such as different pigmentation. However, many variations at the genetic level result in little or no observable variation.

Adenine Adenine (A, Ade) is a nucleobase (a purine derivative) with a variety of roles in biochemistry including cellular respiration, in the form of both the energy-rich adenosine triphosphate (ATP) and the cofactors nicotinamide adenine dinucleotide (NAD) and flavin adenine dinucleotide (FAD), and protein synthesis, as a chemical component of DNA and RNA. The shape of adenine is complementary to either thymine in DNA or uracil in RNA.

Amino Acid Amino acids are molecules containing an amine group, a carboxylic acid group, and a side-chain that is specific to each amino acid. The key elements of an amino acid are carbon, hydrogen, oxygen, and nitrogen. They are particularly important in biochemistry, where the term usually refers to alpha-amino acids. An alpha-amino acid has the generic formula H2NCHRCOOH, where R is an organic substituent; the amino group is attached to the carbon atom immediately adjacent to the carboxylate group (the carbon). Other types of amino acid exist when the amino group is attached to a different carbon atom; for example, in gamma-amino acids (such as gammaamino-butyric acid) the carbon atom to which the amino group attaches is separated from the carboxylate group by two other carbon atoms. The various alpha-amino acids differ in which side-chain (R-group) is attached to their alpha carbon, and can vary in size from just one hydrogen atom in glycine to a large heterocyclic group in tryptophan. Amino acids serve as the building blocks of proteins, which are linear chains of amino acids. Amino acids can be linked together in varying sequences to form a vast variety of proteins. Twenty amino acids are naturally incorporated into polypeptides and are called proteinogenic or standard amino acids. These 20 are encoded by the universal genetic code. Nine standard amino acids are called "essential" for humans because they cannot be created from other compounds by the human body, and so must be taken in as food. Amino acids are important in nutrition and are commonly used in nutrition supplements, fertilizers, food technology and industry. In industry, applications include the production of biodegradable plastics, drugs, and chiral catalysts. Blood Type A blood type (also called a blood group) is a classification of blood based on the presence or absence of inherited antigenic substances on the surface of red blood cells (RBCs).

These antigens may be proteins, carbohydrates, glycoproteins, or glycolipids, depending on the blood group system. Some of these antigens are also present on the surface of other types of cells of various tissues. Several of these red blood cell surface antigens can stem from one allele (or very closely linked genes) and collectively form a blood group system. Blood types are inherited and represent contributions from both parents. A total of 30 human blood group systems are now recognized by the International Society of Blood Transfusion (ISBT). Many pregnant women carry a fetus with a blood type different from their own, and the mother can form antibodies against fetal RBCs. Sometimes these maternal antibodies are IgG, a small immunoglobulin, which can cross the placenta and cause hemolysis of fetal RBCs, which in turn can lead to hemolytic disease of the newborn, an illness of low fetal blood counts that ranges from mild to severe. y Cell Growth The term cell growth is used in the contexts of cell development and cell division (reproduction). When used in the context of cell division, it refers to growth of cell populations, where one cell (the "mother cell") grows and divides to produce two "daughter cells" (M phase). When used in the context of cell development, the term refers to increase in cytoplasmic and organelle volume (G1 phase), as well as increase in genetic material before replication (G2 phase). Chromosomes A chromosome is an organized structure of DNA and protein found in cells. It is a single piece of coiled DNA containing many genes, regulatory elements and other nucleotide sequences. Chromosomes also contain DNA-bound proteins, which serve to package the DNA and control its functions. Chromosomes vary widely between different organisms. The DNA molecule may be circular or linear, and can be composed of 100,000 to 10,000,000,000 nucleotides in a long chain. Typically, eukaryotic cells (cells with nuclei) have large linear chromosomes and prokaryotic cells (cells without defined nuclei) have smaller circular chromosomes, although there are many exceptions to this rule. Also, cells may contain more than one type of chromosome; for example, mitochondria in most eukaryotes and chloroplasts in plants have their own small chromosomes. In eukaryotes, nuclear chromosomes are packaged by proteins into a condensed structure called chromatin. This allows the very long DNA molecules to fit into the cell nucleus. The structure of chromosomes and chromatin varies through the cell cycle. Chromosomes are the essential unit for cellular division and must be replicated, divided, and passed successfully to their daughter cells so as to ensure the genetic diversity and survival of their progeny. Chromosomes may exist as either duplicated or unduplicated. Unduplicated chromosomes are single linear strands, whereas duplicated chromosomes contain two identical copies (called chromatids) joined by a centromere. Compaction of the duplicated chromosomes during mitosis and meiosis results in the classic four-arm structure (pictured to the right). Chromosomal recombination plays a vital role

in genetic diversity. If these structures are manipulated incorrectly, through processes known as chromosomal instability and translocation, the cell may undergo mitotic catastrophe and die, or it may unexpectedly evade apoptosis leading to the progression of cancer. In practice "chromosome" is a rather loosely defined term. In prokaryotes and viruses, the term genophore is more appropriate when no chromatin is present. However, a large body of work uses the term chromosome regardless of chromatin content. In prokaryotes, DNA is usually arranged as a circle, which is tightly coiled in on itself, sometimes accompanied by one or more smaller, circular DNA molecules called plasmids. These small circular genomes are also found in mitochondria and chloroplasts, reflecting their bacterial origins. The simplest genophores are found in viruses: these DNA or RNA molecules are short linear or circular genophores that often lack structural proteins. The word chromosome comes from the Greek (chroma, colour) and (soma, body) due to their property of being very strongly stained by particular dyes. y Cloning Cloning in biology is the process of producing similar populations of genetically identical individuals that occurs in nature when organisms such as bacteria, insects or plants reproduce asexually. Cloning in biotechnology refers to processes used to create copies of DNA fragments (molecular cloning), cells (cell cloning), or organisms. The term also refers to the production of multiple copies of a product such as digital media or software. The term clone is derived from the Ancient Greek word (kl n, twig ), referring to the process whereby a new plant can be created from a twig. In horticulture, the spelling clon was used until the twentieth century; the final e came into use to indicate the vowel is a "long o" instead of a "short o". Since the term entered the popular lexicon in a more general context, the spelling clone has been used exclusively. In the United States, the human consumption of meat and other products from cloned animals was approved by the FDA on December 28, 2006, with no special labeling required. Cloned beef and other products have since been regularly consumed in the US without distinction. Such practice has met strong resistance in other regions, such as Europe, particularly over the labeling issue. y Codominance Codominance refers to a relationship between two alleles of a gene. It occurs when the contributions of both alleles at a single locus are visible and do not overpower each other in the phenotype. For instance, in the ABO system, the IA and IB alleles are co-dominant in producing the AB blood group phenotype, in which both A- and B-type antigens are made. Another example occurs at the locus for the Beta-globin component of hemoglobin, where the three molecular phenotypes of HbA/HbA, HbA/HbS, and HbS/HbS are all equally detectable by protein electrophoresis. For most gene loci at the molecular level, both alleles are expressed codominantly, because both are transcribed into RNA Co-dominance and incomplete or semi-

dominance are not the same thing. For example, in some plant species, pink flowers may be the product of a mixture of red and white pigments (co-dominance on the pigment level, no dominance on the color level), or the result of one allele that produces the usual amount of red pigment and another non-functional allele that produces no pigment, so as to produce a dilute, intermediate pink color (no dominance at either level). y Colorblindness Color blindness or color vision deficiency is the inability or decreased ability to see color, or perceive color differences, under lighting conditions when color vision is not normally impaired. "Color blind" is a term of art; there is no actual blindness but there is a fault in the development of one or more sets of retinal cones that perceive color in light and transmit that information to the optic nerve. Color blindness is a sex-linked condition. The genes that produce photopigments are carried on the X chromosome; if some of these genes are missing or damaged, color blindness will be expressed in males with a higher probability than in females because males only have one X chromosome (in females, a good gene on only one of the two X chromosomes is enough to yield the needed photopigments). The symptoms of color blindness also can be produced by physical or chemical damage to the eye, optic nerve, or the brain generally. These are not true color blindness; however, they represent conditions of limited actual blindness. Similarly, a person with achromatopsia, although unable to see colors, is not "color blind" per se but they suffer from a completely different disorder, of which an atypical color deficiency is only one manifestation. The English chemist John Dalton published the first scientific paper on this subject in 1798, "Extraordinary facts relating to the vision of colours", after the realization of his own color blindness. Because of Dalton's work, the condition was often called daltonism, although in English this term is now used for a single type of color blindness, called deuteranopia. Many other languages, however, continue to use words based on his name for general color blindness. Color blindness is usually classed as a mild disability but there are situations where color blind individuals can have an advantage over those with normal color vision. Some studies conclude that color blind individuals are better at penetrating certain color camouflages; this may be an evolutionary explanation for the surprisingly high frequency of congenital red green color blindness. Cystic Fibrosis Cystic fibrosis (also known as CF or mucoviscidosis) is a recessive genetic disease affecting most critically the lungs, and also the pancreas, liver, and intestine. It is characterized by abnormal transport of chloride and sodium across epithelium, leading to thick, viscous secretions. The name cystic fibrosis refers to the characteristic scarring (fibrosis) and cyst formation within the pancreas, first recognized in the 1930s. Difficulty breathing is the most serious symptom and results from frequent lung infections that are treated with, though not cured by, antibiotics and other medications. Other symptoms, including sinus infections, poor growth, diarrhea, and infertility affect other parts of the body.

CF is caused by a mutation in the gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR). This gene is required to regulate the components of sweat, digestive juices, and mucus. Although most people without CF have two working copies of the CFTR gene, only one is needed to prevent cystic fibrosis. CF develops when neither gene works normally and therefore has autosomal recessive inheritance. CF is most common among Caucasians; one in 25 people of European descent carries one allele for CF. The World Health Organization states that "In the European Union 1 in 2000-3000 newborns is found to be affected by CF". Individuals with cystic fibrosis can be diagnosed before birth by genetic testing, or by a sweat test in early childhood. Ultimately, lung transplantation is often necessary as CF worsens. y Cytosine Cytosine (C) is one of the four main bases found in DNA and RNA, along with adenine, guanine, and thymine (uracil in RNA). It is a pyrimidine derivative, with a heterocyclic aromatic ring and two substituents attached (an amine group at position 4 and a keto group at position 2). The nucleoside of cytosine is cytidine. In Watson-Crick base pairing, it forms three hydrogen bonds with guanine. Cell Division Cell division is the process by which a parent cell divides into two or more daughter cells. Cell division is usually a small segment of a larger cell cycle. This type of cell division in eukaryotes is known as mitosis, and leaves the daughter cell capable of dividing again. The corresponding sort of cell division in prokaryotes is known as binary fission. In another type of cell division present only in eukaryotes, called meiosis, a cell is permanently transformed into a gamete and may divide again until fertilization. Right before the parent cell splits, it undergoes DNA replication. For simple unicellular organisms such as the amoeba, one cell division is equivalent to reproduction-- an entire new organism is created. On a larger scale, mitotic cell division can create progeny from multicellular organisms, such as plants that grow from cuttings. Cell division also enables sexually reproducing organisms to develop from the one-celled zygote, which itself was produced by cell division from gametes. And after growth, cell division allows for continual construction and repair of the organism. A human being's body experiences about 10,000 trillion cell divisions in a lifetime. The primary concern of cell division is the maintenance of the original cell's genome. Before division can occur, the genomic information which is stored in chromosomes must be replicated, and the duplicated genome separated cleanly between cells. A great deal of cellular infrastructure is involved in keeping genomic information consistent between "generations". Deoxyribonucleic acid Deoxyribonucleic acid is a nucleic acid containing the genetic instructions used in the

development and functioning of all known living organisms (with the exception of RNA viruses). The DNA segments carrying this genetic information are called genes. Likewise, other DNA sequences have structural purposes, or are involved in regulating the use of this genetic information. Along with RNA and proteins, DNA is one of the three major macromolecules that are essential for all known forms of life. DNA consists of two long polymers of simple units called nucleotides, with backbones made of sugars and phosphate groups joined by ester bonds. These two strands run in opposite directions to each other and are therefore anti-parallel. Attached to each sugar is one of four types of molecules called nucleobases (informally, bases). It is the sequence of these four nucleobases along the backbone that encodes information. This information is read using the genetic code, which specifies the sequence of the amino acids within proteins. The code is read by copying stretches of DNA into the related nucleic acid RNA in a process called transcription. Within cells DNA is organized into long structures called chromosomes. During cell division these chromosomes are duplicated in the process of DNA replication, providing each cell its own complete set of chromosomes. Eukaryotic organisms (animals, plants, fungi, and protists) store most of their DNA inside the cell nucleus and some of their DNA in organelles, such as mitochondria or chloroplasts. In contrast, prokaryotes (bacteria and archaea) store their DNA only in the cytoplasm. Within the chromosomes, chromatin proteins such as histones compact and organize DNA. These compact structures guide the interactions between DNA and other proteins, helping control which parts of the DNA are transcribed. y Down Syndrome Down syndrome, or Down's syndrome, trisomy 21, is a chromosomal condition caused by the presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, the British physician who described the syndrome in 1866. The condition was clinically described earlier in the 19th century by Jean Etienne Dominique Esquirol in 1838 and Edouard Seguin in 1844. Down syndrome was identified as a chromosome 21 trisomy by Dr. Jrme Lejeune in 1959. Down syndrome in a fetus can be identified through chorionic villus sampling or amniocentesis during pregnancy, or in a baby at birth. Down syndrome is a chromosomal condition characterized by the presence of an extra copy of genetic material on the 21st chromosome, either in whole (trisomy 21) or part (such as due to translocations). The effects and extent of the extra copy vary greatly among people, depending on genetic history, and pure chance. The incidence of Down syndrome is estimated at 1 per 733 births, although it is statistically more common with older parents due to increased mutagenic exposures upon some older parents' reproductive cells. Other factors may also play a role. Down syndrome occurs in all human populations, and analogous effects have been found in other species such as chimpanzees and mice. Often Down syndrome is associated with some impairment of cognitive ability and physical growth, and a particular set of facial characteristics. Individuals with Down syndrome usually have low intelligence, ranging from mild to moderate disabilities. Many children with Down syndrome who have received family support, enrichment therapies, and tutoring have been known to graduate from high school and college, and enjoy employment in the work force.

The average IQ of children with Down syndrome is around 50, compared to normal children with an IQ of 100. A small number have a severe to high degree of intellectual disability. Individuals with Down syndrome may have some or all of the following physical characteristics: microgenia (an abnormally small chin), an unusually round face, macroglossia (protruding or oversized tongue), an almond shape to the eyes caused by an epicanthic fold of the eyelid, upslanting palpebral fissures (the separation between the upper and lower eyelids), shorter limbs, a single transverse palmar crease (a single instead of a double crease across one or both palms), poor muscle tone, and a larger than normal space between the big and second toes. Health concerns for individuals with Down syndrome include a higher risk for congenital heart defects, gastroesophageal reflux disease, recurrent ear infections that may lead to hearing loss, obstructive sleep apnea, thyroid dysfunctions, and obesity. Early childhood intervention, screening for common problems, medical treatment where indicated, a conducive family environment, and vocational training can improve the overall development of children with Down syndrome. Education and proper care will improve quality of life significantly, despite genetic limitations. y Gene A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a polypeptide or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains. Genes hold the information to build and maintain an organism's cells and pass genetic traits to offspring, although some organelles (e.g. mitochondria) are self-replicating and are not coded for by the organism's DNA. All organisms have many genes corresponding to various biological traits, some of which are immediately visible, such as eye color or number of limbs, and some of which are not, such as blood type or increased risk for specific diseases, or the thousands of basic biochemical processes that comprise life. The chemical structure of a four-base fragment of a DNA double helix. A modern working definition of a gene is "a locatable region of genomic sequence, corresponding to a unit of inheritance, which is associated with regulatory regions, transcribed regions, and or other functional sequence regions ". Colloquial usage of the term gene (e.g. "good genes", "hair color gene") may actually refer to an allele: a gene is the basic instruction a sequence of nucleic acids (DNA or, in the case of certain viruses RNA), while an allele is one variant of that gene. Referring to having a gene for a trait is no longer the scientifically accepted usage. In most cases, all people would have a gene for the trait in question, but certain people will have a specific allele of that gene, which results in the trait variant. Further, genes code for proteins, which might result in identifiable traits, but it is the gene, not the trait, which is inherited. y Genetic Code The genetic code is the set of rules by which information encoded in genetic material (DNA or mRNA sequences) is translated into proteins (amino acid sequences) by living cells.

The code defines how sequences of three nucleotides, called codons, specify which amino acid will be added next during protein synthesis. With some exceptions, a threenucleotide codon in a nucleic acid sequence specifies a single amino acid. Because the vast majority of genes are encoded with exactly the same code (see the RNA codon table), this particular code is often referred to as the canonical or standard genetic code, or simply the genetic code, though in fact some variant codes have evolved. For example, protein synthesis in human mitochondria relies on a genetic code that differs from the standard genetic code. Not all genetic information is stored using the genetic code. All organisms' DNA contains regulatory sequences, intergenic segments, chromosomal structural areas, and other noncoding DNA that can contribute greatly to phenotype. Those elements operate under sets of rules that are distinct from the codon-to-amino acid paradigm underlying the genetic code. y Genetics Genetics (from Ancient Greek genetikos, "genitive" and that from genesis, "origin"), a discipline of biology, is the science of genes, heredity, and variation in living organisms. Genetics deals with the molecular structure and function of genes, gene behavior in context of a cell or organism (e.g. dominance and epigenetics), patterns of inheritance from parent to offspring, and gene distribution, variation and change in populations. Given that genes are universal to living organisms, genetics can be applied to the study of all living systems, from viruses and bacteria, through plants and domestic animals, to humans (as in medical genetics). The fact that living things inherit traits from their parents has been used since prehistoric times to improve crop plants and animals through selective breeding. However, the modern science of genetics, which seeks to understand the process of inheritance, only began with the work of Gregor Mendel in the mid-19th century. Although he did not know the physical basis for heredity, Mendel observed that organisms inherit traits via discrete units of inheritance, which are now called genes. Genes correspond to regions within DNA, a molecule composed of a chain of four different types of nucleotides the sequence of these nucleotides is the genetic information organisms inherit. DNA naturally occurs in a double stranded form, with nucleotides on each strand complementary to each other. Each strand can act as a template for creating a new partner strand. This is the physical method for making copies of genes that can be inherited. The sequence of nucleotides in a gene is translated by cells to produce a chain of amino acids, creating proteins the order of amino acids in a protein corresponds to the order of nucleotides in the gene. This relationship between nucleotide sequence and amino acid sequence is known as the genetic code. The amino acids in a protein determine how it folds into a three-dimensional shape; this structure is, in turn, responsible for the protein's function. Proteins carry out almost all the functions needed for cells to live. A change to the DNA in a gene can change a protein's amino acids, changing its shape and function: this can have a dramatic effect in the cell and on the organism as a whole. Although genetics plays a large role in the appearance and behavior of organisms, it is the combination of genetics with what an organism experiences that determines the ultimate

outcome. For example, while genes play a role in determining an organism's size, the nutrition and health it experiences after inception also have a large effect. y Genotype The genotype is the genetic makeup of a cell, an organism, or an individual (i.e. the specific allele makeup of the individual) usually with reference to a specific character under consideration. For instance, the human CFTR gene, which encodes a protein that transports chloride ions across cell membranes, can be dominant (A) as the normal version of the gene, or recessive (a) as a mutated version of the gene. Individuals receiving two recessive alleles will be diagnosed with Cystic fibrosis. It is generally accepted that inherited genotype, transmitted epigenetic factors, and non-hereditary environmental variation contribute to the phenotype of an individual. Non-hereditary DNA mutations are not classically understood as representing the individual's genotype. Hence, scientists and physicians sometimes talk for example about the (geno)type of a particular cancer, that is the genotype of the disease as distinct from the diseased. Guanine Guanine (G) is one of the four main nucleobases found in the nucleic acids DNA and RNA, the others being adenine, cytosine, and thymine (uracil in RNA). In DNA, guanine is paired with cytosine. With the formula C5H5N5O, guanine is a derivative of purine, consisting of a fused pyrimidine-imidazole ring system with conjugated double bonds. Being unsaturated, the bicyclic molecule is planar. The guanine nucleoside is called guanosine. Heredity Heredity is the passing of traits to offspring (from its parent or ancestors). This is the process by which an offspring cell or organism acquires or becomes predisposed to the characteristics of its parent cell or organism. Through heredity, variations exhibited by individuals can accumulate and cause some species to evolve. The study of heredity in biology is called genetics, which includes the field of epigenetics. Heterozygous A diploid organism is heterozygous at a gene locus when its cells contain two different alleles of a gene. Heterozygous genotypes are represented by a capital letter (representing the dominant allele) and a lowercase letter (representing the recessive allele), such as "Rr" or "Ss". The capital letter is usually written first. If the trait in question is determined by simple (complete) dominance, a heterozygote will express only the trait coded by the dominant allele and the trait coded by the recessive allele will not be present. In more complex dominance schemes the results of heterozygosity can be more complex.

Homozygous A cell is said to be homozygous for a particular gene when identical alleles of the gene are present on both homologous chromosomes. The cell or organism in question is called a homozygote. True breeding organisms are always homozygous for the traits that are to be held constant. An individual that is homozygous-dominant for a particular trait carries two copies of the allele that codes for the dominant trait. This allele, often called the "dominant allele", is normally represented by a capital letter (such as "P" for the dominant allele producing purple flowers in pea plants). When an organism is homozygous-dominant for a particular trait, the genotype is represented by a doubling of the symbol for that trait, such as "PP". An individual that is homozygous-recessive for a particular trait carries two copies of the allele that codes for the recessive trait. This allele, often called the "recessive allele", is usually represented by the lowercase form of the letter used for the corresponding dominant trait (such as, with reference to the example above, "p" for the recessive allele producing white flowers in pea plants). The genotype of an organism that is homozygous-recessive for a particular trait is represented by a doubling of the appropriate letter, such as "pp". Incomplete and semi-dominance Incomplete dominance occurs when the phenotype of the heterozygous genotype is an intermediate of the phenotypes of the homozygous genotypes. For example, the snapdragon flower color is either homozygous for red or white. When the red homozygous flower is paired with the white homozygous flower, the result yields a pink snapdragon flower. The pink snapdragon is the result of incomplete dominance. Karyotype A karyotype is the number and appearance of chromosomes in the nucleus of a eukaryotic cell. The term is also used for the complete set of chromosomes in a species, or an individual organism. Karyotypes describe the number of chromosomes, and what they look like under a light microscope. Attention is paid to their length, the position of the centromeres, banding pattern, any differences between the sex chromosomes, and any other physical characteristics. The preparation and study of karyotypes is part of cytogenetics. The study of karyotypes is important for cell biology and genetics, and the results may be used in evolutionary biology and medicine. Karyotypes can be used for many purposes; such as, to study chromosomal aberrations, cellular function, taxonomic relationships, and to gather information about past evolutionary events. Meiosis Meiosis is a special type of cell division necessary for sexual reproduction. The cells produced by meiosis are gametes or spores. The animals' gametes are called sperm and egg cells.

Whilst the process of meiosis bears a number of similarities with the 'life-cycle' cell division process of mitosis, it differs in two important respects: the chromosomes in meiosis undergo a recombination which shuffles the genes producing a different genetic combination in each gamete, compared with the co-existence of each of the two separate pairs of each chromosome (one received from each parent) in each cell which results from mitosis. The outcome of meiosis is four (genetically unique) haploid cells, compared with the two (genetically identical) diploid cells produced from mitosis. Meiosis begins with one diploid cell containing two copies of each chromosome one from the organism's mother and one from its father and produces four haploid cells containing one copy of each chromosome. Each of the resulting chromosomes in the gamete cells is a unique mixture of maternal and paternal DNA, ensuring that offspring are genetically distinct from either parent. This gives rise to genetic diversity in sexually reproducing populations, which provides the variation of physical and behavioural attributes (phenotypes) upon which natural selection acts. Prior to the meiosis process the cell's chromosomes are duplicated by a round of DNA replication, creating from the maternal and paternal versions of each chromosome (homologs) two exact copies, sister chromatids, attached at the centromere region. In the beginning of meiosis the maternal and paternal homologs pair to each other. Then they typically exchange parts by homologous recombination leading to crossovers of DNA between the maternal and paternal versions of the chromosome. Spindle fibers bind to the centromeres of each pair of homologs and arrange the pairs at the spindle equator. Then the fibers pull the recombined homologs to opposite poles of the cell. As the chromosomes move away from the center the cell divides into two daughter cells, each containing a haploid number of chromosomes composed of two chromatids. After the recombined maternal and paternal homologs have separated into the two daughter cells, a second round of cell division occurs. There meiosis ends as the two sister chromatids making up each homolog are separated and move into one of the four resulting gamete cells. Upon fertilization, for example when a sperm enters an egg cell, two gamete cells produced by meiosis fuse. The gamete from the mother and the gamete from the father each contribute one half of the set of chromosomes that make up the new offspring's genome. Meiosis uses many of the same mechanisms as mitosis, a type of cell division used by eukaryotes like plants and animals to split one cell into two identical daughter cells. In all plants and in many protists meiosis results in the formation of spores: haploid cells that can divide vegetatively without undergoing fertilization. Some eukaryotes, like Bdelloid rotifers, do not have the ability to carry out meiosis and have acquired the ability to reproduce by parthenogenesis. Meiosis does not occur in archaea or bacteria, which reproduce via asexual processes such as binary fission. y Mitosis Mitosis is the process by which a eukaryotic cell separates the chromosomes in its cell nucleus into two identical sets, in two separate nuclei. It is generally followed immediately by

cytokinesis, which divides the nuclei, cytoplasm, organelles and cell membrane into two cells containing roughly equal shares of these cellular components. Mitosis and cytokinesis together define the mitotic (M) phase of the cell cycle the division of the mother cell into two daughter cells, genetically identical to each other and to their parent cell. This accounts for approximately 10% of the cell cycle. Mitosis occurs only in eukaryotic cells and the process varies in different species. For example, animals undergo an "open" mitosis, where the nuclear envelope breaks down before the chromosomes separate, while fungi such as Aspergillus nidulans and Saccharomyces cerevisiae (yeast) undergo a "closed" mitosis, where chromosomes divide within an intact cell nucleus. Prokaryotic cells, which lack a nucleus, divide by a process called binary fission. The process of mitosis is fast and highly complex. The sequence of events is divided into stages corresponding to the completion of one set of activities and the start of the next. These stages are interphase, prophase, prometaphase, metaphase, anaphase and telophase. During mitosis the pairs of chromatids condense and attach to fibers that pull the sister chromatids to opposite sides of the cell. The cell then divides in cytokinesis, to produce two identical daughter cells which are still diploid cells. Because cytokinesis usually occurs in conjunction with mitosis, "mitosis" is often used interchangeably with "mitotic phase". However, there are many cells where mitosis and cytokinesis occur separately, forming single cells with multiple nuclei. This occurs most notably among the fungi and slime moulds, but is found in various groups. Even in animals, cytokinesis and mitosis may occur independently, for instance during certain stages of fruit fly embryonic development. Errors in mitosis can either kill a cell through apoptosis or cause mutations that may lead to cancer. y Mutagen In genetics, a mutagen (Latin, literally origin of change) is a physical or chemical agent that changes the genetic material, usually DNA, of an organism and thus increases the frequency of mutations above the natural background level. As many mutations cause cancer, mutagens are therefore also likely to be carcinogens. Not all mutations are caused by mutagens: so-called "spontaneous mutations" occur due to spontaneous hydrolysis, errors in DNA replication, repair and recombination. Mutation In molecular biology and genetics, mutations are changes in a genomic sequence: the DNA sequence of a cell's genome or the DNA or RNA sequence of a virus. They can be defined as sudden and spontaneous changes in the cell. Mutations are caused by radiation, viruses, transposons and mutagenic chemicals, as well as errors that occur during meiosis or DNA replication. They can also be induced by the organism itself, by cellular processes such as hypermutation. Mutation can result in several different types of change in sequences; (pre-mRNA) these can either have no effect, alter the product of a gene, or prevent the gene from functioning properly or completely. Studies in the fly Drosophila melanogaster suggest that if a mutation

changes a protein produced by a gene, this will probably be harmful, with about 70 percent of these mutations having damaging effects, and the remainder being either neutral or weakly beneficial. Due to the damaging effects that mutations can have on genes, organisms have mechanisms such as DNA repair to prevent mutations. y Nitrogen Base A nitrogenous (nitrogen-containing) base is a nitrogen-containing molecule having the chemical properties of a base. It is an organic compound that owes its property as a base to the lone pair of electrons of a nitrogen atom. In biological sciences, nitrogenous bases are typically classified as the derivatives of two parent compounds, pyrimidine and purine. They are nonpolar and due to their aromaticity, planar. Both pyrimidines and purines resemble pyridine and are thus weak bases and relatively unreactive towards electrophilic aromatic substitution. Their flat shape is particularly important when considering their roles in nucleic acids as nucleobases (building blocks of DNA and RNA): adenine, guanine, thymine, cytosine, and uracil. These nitrogenous bases hydrogen bond between opposing DNA strands to form the rungs of the "twisted ladder" or double helix of DNA or a biological catalyst that is found in the nucleotides. Adenine is always paired with thymine, and guanine is always paired with cytosine. Nondisjunction Nondisjunction ("not coming apart") is the failure of chromosome pairs to separate properly during meiosis stage 1 or stage 2. This could arise from a failure of homologous chromosomes to separate in meiosis I, or the failure of sister chromatids to separate during meiosis II or mitosis. The result of this error is a cell with an imbalance of chromosomes. Such a cell is said to be aneuploid. Loss of a single chromosome (2n-1), in which the daughter cell(s) with the defect will have one chromosome missing from one of its pairs, is referred to as a monosomy. Gaining a single chromosome, in which the daughter cell(s) with the defect will have one chromosome in addition to its pairs is referred to as a trisomy. Parent A parent (from Latin: par ns = parent) is a caretaker of the offspring in their own species. In humans, a parent is of a child (where "child" refers to offspring, not necessarily age). Children can have one or more parents, but they must have two biological parents. Biological parents consist of the male who sired the child and the female who gave birth to the child. In all human societies, the biological mother and father are both responsible for raising their young. However, some parents may not be biologically related to their children. An adoptive parent is one who nurtures and raises the offspring of the biological parents but is not actually biologically related to the child. Children without adoptive parents can be raised by their grandparents or other family members.

Pea A pea is most commonly the small spherical seed or the seed-pod of the pod fruit Pisum sativum. Each pod contains several peas. Peapods are botanically a fruit, since they contain seeds developed from the ovary of a (pea) flower. However, peas are considered to be a vegetable in cooking. The name is also used to describe other edible seeds from the Fabaceae such as the pigeon pea (Cajanus cajan), the cowpea (Vigna unguiculata), and the seeds from several species of Lathyrus. P. sativum is an annual plant, with a life cycle of one year. It is a cool season crop grown in many parts of the world; planting can take place from winter to early summer depending on location. The average pea weighs between 0.1 and 0.36 grams. The species is used as a vegetable, fresh, frozen or canned, and is also grown to produce dry peas like the split pea. These varieties are typically called field peas. The wild pea is restricted to the Mediterranean basin and the Near East. The earliest archaeological finds of peas come from Neolithic Syria, Turkey and Jordan. In Egypt, early finds date from ca. 4800 4400 BC in the Nile delta area, and from ca. 3800 3600 BC in Upper Egypt. The pea was also present in Georgia in the 5th millennium BC. Farther east, the finds are younger. Peas were present in Afghanistan ca. 2000 BC, in Harappa, Pakistan, and in northwest India in 2250 1750 BC. In the second half of the 2nd millennium BC, this pulse crop appears in the Gangetic basin and southern India.

Phenotype A phenotype (from Greek phainein, 'to show' + typos, 'type') is the composite of an organism's observable characteristics or traits: such as its morphology, development, biochemical or physiological properties, phenology, behavior, and products of behavior (such as a bird's nest). Phenotypes result from the expression of an organism's genes as well as the influence of environmental factors and the interactions between the two. The genotype of an organism is the inherited instructions it carries within its genetic code. Not all organisms with the same genotype look or act the same way because appearance and behavior are modified by environmental and developmental conditions. Likewise, not all organisms that look alike necessarily have the same genotype. This genotype-phenotype distinction was proposed by Wilhelm Johannsen in 1911 to make clear the difference between an organism's heredity and what that heredity produces. The distinction is similar to that proposed by August Weismann, who distinguished between germ plasm (heredity) and somatic cells (the body). The Genotype-Phenotype concept should not be confused with Francis Crick's central dogma of molecular biology, which is a statement about the directionality of molecular sequential information flowing from DNA to protein (but which cannot become transferred from proteins). Plasmid In microbiology and genetics, a plasmid is a DNA molecule that is separate from, and can replicate independently of, the chromosomal DNA. They are double-stranded and, in many

cases, circular. Plasmids usually occur naturally in bacteria, but are sometimes found in eukaryotic organisms (e.g., the 2-micrometre ring in Saccharomyces cerevisiae). Plasmid sizes vary from 1 to over 1,000 kbp. The number of identical plasmids in a single cell can range anywhere from one to even thousands under some circumstances. Plasmids can be considered part of the mobilome because they are often associated with conjugation, a mechanism of horizontal gene transfer. The term plasmid was first introduced by the American molecular biologist Joshua Lederberg in 1952. Plasmids are considered replicons, capable of replicating autonomously within a suitable host. Plasmids can be found in all three major domains: Archaea, Bacteria, and Eukarya. Similar to viruses, plasmids are not considered by some to be a form of life. Unlike viruses, plasmids are naked DNA and do not encode genes necessary to encase the genetic material for transfer to a new host, though some classes of plasmids encode the sex pilus necessary for their own transfer. Plasmid host-to-host transfer requires direct, mechanical transfer by conjugation or changes in host gene expression allowing the intentional uptake of the genetic element by transformation. Microbial transformation with plasmid DNA is neither parasitic nor symbiotic in nature, because each implies the presence of an independent species living in a commensal or detrimental state with the host organism. Rather, plasmids provide a mechanism for horizontal gene transfer within a population of microbes and typically provide a selective advantage under a given environmental state. Plasmids may carry genes that provide resistance to naturally occurring antibiotics in a competitive environmental niche, or the proteins produced may act as toxins under similar circumstances. Plasmids can also provide bacteria with the ability to fix elemental nitrogen or to degrade recalcitrant organic compounds that provide an advantage when nutrients are scarce. y Proteins Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of adjacent amino acid residues. The sequence of amino acids in a protein is defined by the sequence of a gene, which is encoded in the genetic code. In general, the genetic code specifies 20 standard amino acids; however, in certain organisms the genetic code can include selenocysteine and in certain archaea pyrrolysine. Shortly after or even during synthesis, the residues in a protein are often chemically modified by posttranslational modification, which alters the physical and chemical properties, folding, stability, activity, and ultimately, the function of the proteins. Sometimes proteins have non-peptide groups attached, which can be called prosthetic groups or cofactors. Proteins can also work together to achieve a particular function, and they often associate to form stable protein complexes. Like other biological macromolecules such as polysaccharides and nucleic acids, proteins are essential parts of organisms and participate in virtually every process within cells. Many proteins are enzymes that catalyze biochemical reactions and are vital to metabolism. Proteins

also have structural or mechanical functions, such as actin and myosin in muscle and the proteins in the cytoskeleton, which form a system of scaffolding that maintains cell shape. Other proteins are important in cell signaling, immune responses, cell adhesion, and the cell cycle. Proteins are also necessary in animals' diets, since animals cannot synthesize all the amino acids they need and must obtain essential amino acids from food. Through the process of digestion, animals break down ingested protein into free amino acids that are then used in metabolism. Proteins may be purified from other cellular components using a variety of techniques such as ultracentrifugation, precipitation, electrophoresis, and chromatography; the advent of genetic engineering has made possible a number of methods to facilitate purification. Methods commonly used to study protein structure and function include immunohistochemistry, sitedirected mutagenesis, nuclear magnetic resonance and mass spectrometry. y Punnet Square The Punnett square is a diagram that is used to predict an outcome of a particular cross or breeding experiment. It is named after Reginald C. Punnett, who devised the approach, and is used by biologists to determine the probability of an offspring's having a particular genotype. The Punnett square is a summary of every possible combination of one maternal allele with one paternal allele for each gene being studied in the cross. Purebreds Purebreds, also called purebreeds, are cultivated varieties or cultivars of an animal species, achieved through the process of selective breeding. When the lineage of a purebred animal is recorded, that animal is said to be pedigreed. The term purebred is occasionally confused with the proper noun Thoroughbred, which refers exclusively to a specific breed of horse, one of the first breeds for which a written national stud book was created since the 18th century. Thus a purebred animal should never be called a "thoroughbred" unless the animal actually is a registered Thoroughbred horse. Recessive In genetics, the term "recessive gene" refers to an allele that causes a phenotype (visible or detectable characteristic) that is only seen in a homozygous genotype (an organism that has two copies of the same allele) and never in a heterozygous genotype. Every person has two copies of every gene on autosomal chromosomes, one from mother and one from father. If a genetic trait is recessive, a person needs to inherit two copies of the gene for the trait to be expressed. Thus, both parents have to be carriers of a recessive trait in order for a child to express that trait. If both parents are carriers, there is a 25% chance with each child to show the recessive trait. Thus if the parents are closely related (in-breeding) the probability of both having inherited the same gene is increased and as a result the probability of the children showing the recessive trait is increased as well.

The term "recessive gene" is part of the laws of Mendelian inheritance created by Gregor Mendel. Examples of recessive genes in Mendel's famous pea plant experiments include those that determine the color and shape of seed pods, and plant height. y Recombinant DNA Recombinant DNA (rDNA) molecules are DNA sequences that result from the use of laboratory methods (molecular cloning) to bring together genetic material from multiple sources, creating sequences that would not otherwise be found in biological organisms. Recombinant DNA is possible because DNA molecules from all organisms share the same chemical structure; they differ only in the sequence of nucleotides within that identical overall structure. Consequently, when DNA from a foreign source is linked to host sequences that can drive DNA replication and then introduced into a host organism, the foreign DNA is replicated along with the host DNA. Self-pollination Self-pollination is a form of pollination that can occur when a flower has both stamen and a carpel (pistil) in which the cultivar or species is self fertile and the stamens and the sticky stigma of the carpel contact each other in order to accomplish pollination. The term is inaccurately used in many cases where an outside pollinator is actually required; such plants are merely self fertile, or self pollenizing. Few plants actually self pollinate. The mechanism is seen most often in some legumes such as peanuts. In another legume, Soybeans, the flowers open and remain receptive to insect cross pollination during the day; if this is not accomplished, the flowers self pollinate as they are closing. Other plants that can self pollinate are many kinds of orchids, peas, sunflowers, tridax,etc. Self pollination limits the variety of progeny and may depress plant vigor. However, self pollenizing can be advantageous, allowing plants to spread beyond the range of suitable pollinators or produce offspring in areas where pollinator populations have been greatly reduced or are naturally variable. Sex Chromosomes The accepted hypothesis of XY and ZW sex chromosome evolution is that they evolved at the same time, in two different branches. However, there is some evidence to suggest that there could have been transitions between ZW and XY, such as in Xiphophorus maculatus, which have both ZW and XY systems in the same population, despite the fact that ZW and XY have different gene locations. The platypus' genes also back up the possible evolutionary link between XY and ZW, because they have the DMRT1 gene possessed by birds on their X chromosomes. Regardless, XY and ZW follow a similar route. All sex chromosomes started out as an original autosome of an original reptile that relied upon temperature to determine the sex of offspring. After the mammals separated, the branch further split into Lepidosauria and Archosauromorpha. These two groups both evolved the ZW system separately, as evidenced by

the existence of different sex chromosomal locations. In mammals, one of the autosome pair, now Y, mutated its SOX3 gene into the SRY gene, causing that chromosome to designate sex. After this mutation, the SRY-containing chromosome inverted and was no longer completely homologous with its partner. The regions of the X and Y chromosomes that are still homologous to one another are known as the pseudoautosomal region. Once it inverted, Y chromosome continued to receive both positive and negative mutations throughout the years, and without a partner to combine with, it slowly decayed. However, because both the chromosomes were necessary for reproduction, the Y chromosome remained, despite its inability to pair with the X. This is becoming a problem, due to the fact that the Y chromosome is steadily shrinking and losing its genes. Without the ability to swap genes with its pair, it is racking up with mutations and may stop functioning in 10 million years. There are some species, such as the medaka fish that evolved sex chromosomes separately, whose Y chromosome never inverted and can still swap genes with the X. These species are still in an early phase of evolution of their sex chromosomes. Because the Y does not have male-specific genes and can interact with the X, XY and YY females can be formed as well as XX males. y Sex Linkage Sex linkage is the phenotypic expression of an allele related to the chromosomal sex of the individual. This mode of inheritance is in contrast to the inheritance of traits on autosomal chromosomes, where both sexes have the same probability of inheritance. Since humans have many more genes on the X than the Y, there are many more X-linked traits than Y-linked traits. In mammals, the female is the homozygous sex, with two X chromosomes (XX), while the male is heterozygous, with one X and one Y chromosome (XY). Genes on the X or Y chromosome are called sex linked genes. In birds, the opposite is true: the male is the homozygous sex, having two Z chromosomes (ZZ), and the female (hen) is heterozygous, having one Z and one W chromosome (ZW). Sickle Cell Anemia Sickle-cell disease (SCD), or sickle-cell anemia (or anemia, SCA) or drepanocytosis, is an autosomal recessive genetic blood disorder with over dominance, characterized by red blood cells that assume an abnormal, rigid, sickle shape. Sickling decreases the cells' flexibility and results in a risk of various complications. The sickling occurs because of a mutation in the hemoglobin gene. Life expectancy is shortened. In 1994, in the US, the average life expectancy of persons with this condition was estimated to be 42 years in males and 48 years in females, but today, thanks to better management of the disease, patients can live into their 50s or beyond. In the UK, the current life expectancy is estimated to be 53 60 years of age. Sickle-cell disease, usually presenting in childhood, occurs more commonly in people (or their descendants) from parts of tropical and sub-tropical regions where malaria is or was common. One-third of all indigenous inhabitants of Sub-Saharan Africa carry the gene, because in areas where malaria is common, there is a fitness benefit in carrying only a single sickle-cell

gene (sickle cell trait). Those with only one of the two alleles of the sickle-cell disease, while not totally resistant, are more tolerant to the infection and thus show less severe symptoms when infected. The prevalence of the disease in the United States is approximately 1 in 5,000, mostly affecting Americans of Sub-Saharan African descent, according to the National Institutes of Health. In the United States, about 1 out of 500 African-American children born will have sicklecell anemia. Sickle-cell anemia is the name of a specific form of sickle-cell disease in which there is homozygosity for the mutation that causes HbS. Sickle-cell anemia is also referred to as "HbSS", "SS disease", "hemoglobin S" or permutations thereof. In heterozygous people, who have only one sickle gene and one normal adult hemoglobin gene, it is referred to as "HbAS" or "sickle cell trait". Other, rarer forms of sickle-cell disease include sickle-hemoglobin C disease (HbSC), sickle beta-plus-thalassaemia (HbS/ +) and sickle beta-zero-thalassaemia (HbS/ 0). These other forms of sickle-cell disease are compound heterozygous states in which the person has only one copy of the mutation that causes HbS and one copy of another abnormal hemoglobin allele. The term disease is applied, because the inherited abnormality causes a pathological condition that can lead to death and severe complications. Not all inherited variants of hemoglobin are detrimental, a concept known as genetic polymorphism. y Thymine Thymine (T, Thy) is one of the four nucleobases in the nucleic acid of DNA that are represented by the letters G C A T. The others are adenine, guanine, and cytosine. Thymine is also known as 5-methyluracil, a pyrimidine nucleobase. As the name suggests, thymine may be derived by methylation of uracil at the 5th carbon. In RNA, thymine is replaced with uracil in most cases. In DNA, thymine (T) binds to adenine (A) via two hydrogen bonds, thus stabilizing the nucleic acid structures. Thymine combined with deoxyribose creates the nucleoside deoxythymidine, which is synonymous with the term thymidine. Thymidine can be phosphorylated with one, two, or three phosphoric acid groups, creating, respectively, TMP, TDP, or TTP (thymidine mono-, di-, or triphosphate). One of the common mutations of DNA involves two adjacent thymines or cytosine, which, in presence of ultraviolet light, may form thymine dimers, causing "kinks" in the DNA molecule that inhibit normal function. Thymine could also be a target for actions of 5-fluorouracil (5-FU) in cancer treatment. 5-FU can be a metabolic analog of thymine (in DNA synthesis) or uracil (in RNA synthesis). Substitution of this analog inhibits DNA synthesis in actively dividing cells. Thymine bases are frequently oxidized to hydantoins over time after the death of an organism. X chromosome The X chromosome is one of the two sex-determining chromosomes in many animal species, including mammals (the other is the Y chromosome) and is found in both males and

females. It is a part of the XY sex-determination system and X0 sex-determination system. The X chromosome was named for its unique properties by early researchers, which resulted in the naming of its counterpart Y chromosome, for the next letter in the alphabet, after it was discovered later. y Y Chromosome The Y chromosome is one of the two sex-determining chromosomes in most mammals, including humans. In mammals, it contains the gene SRY, which triggers testis development if present. The human Y chromosome is composed of about 60 million base pairs. DNA in the Y chromosome is passed from father to son, and Y-DNA analysis may thus be used in genealogy research.