What is DNA? DNA, or deoxyribonucleic acid, is the hereditary material in humans and almost all other organisms.

Nearly every cell in a persons body has the same DNA. Most DNA is located in the cell nucleus (where it is called nuclear DNA), but a small amount of DNA can also be found in the mitochondria (where it is calledmitochondrial DNA or mtDNA). The information in DNA is stored as a code made up of four chemical bases: adenine (A), guanine (G), cytosine (C), and thymine (T). Human DNA consists of about 3 billion bases, and more than 99 percent of those bases are the same in all people. The order, or sequence, of these bases determines the information available for building and maintaining an organism, similar to the way in which letters of the alphabet appear in a certain order to form words and sentences. DNA bases pair up with each other, A with T and C with G, to form units called base pairs. Each base is also attached to a sugar molecule and a phosphate molecule. Together, a base, sugar, and phosphate are called a nucleotide. Nucleotides are arranged in two long strands that form a spiral called a double helix. The structure of the double helix is somewhat like a ladder, with the base pairs forming the ladders rungs and the sugar and phosphate molecules forming the vertical sidepieces of the ladder. An important property of DNA is that it can replicate, or make copies of itself. Each strand of DNA in the double helix can serve as a pattern for duplicating the sequence of bases. This is critical when cells divide because each new cell needs to have an exact copy of the DNA present in the old cell. DNA is a double helix formed by base pairs attached to a sugarphosphate backbone.

MITOCHONDRIAL DNA Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA. This genetic material is known as mitochondrial DNA or mtDNA. Mitochondria (illustration) are structures within cells that convert the energy from food into a form that cells can use. Each cell contains hundreds to thousands of mitochondria, which are located in the fluid that surrounds the nucleus (the cytoplasm). Mitochondria produce energy through a process called oxidative phosphorylation. This process uses oxygen and simple sugars to create adenosine triphosphate (ATP), the cells main energy source. A set of enzyme complexes, designated as complexes I-V, carry out oxidative phosphorylation within mitochondria. In addition to energy production, mitochondria play a role in several other cellular activities. For example, mitochondria help regulate the self-destruction of cells (apoptosis). They are also necessary for the production of substances such as cholesterol and heme (a component of hemoglobin, the molecule that carries oxygen in the blood). Mitochondrial DNA contains 37 genes, all of which are essential for normal mitochondrial function. Thirteen of these genes provide instructions for making enzymes involved in oxidative phosphorylation. The remaining genes provide instructions for making molecules called transfer RNAs (tRNAs) and ribosomal RNAs (rRNAs), which are chemical cousins of DNA. These types of RNA help assemble protein building blocks (amino acids) into functioning proteins. GENE A gene is the basic physical and functional unit of heredity. Genes, which are made up of DNA, act as instructions to make molecules called proteins. In humans, genes vary in size from a few hundred DNA bases to more than 2 million bases. The Human Genome Project has estimated that humans have between 20,000 and 25,000 genes. Every person has two copies of each gene, one inherited from each parent. Most genes are the same in all people, but a small number of genes (less than 1 percent of the total) are slightly different between people. Alleles are forms of the same gene with small differences in their sequence of DNA bases. These small 0

Genes are made up of DNA. Each chromosome contains many genes.

CHROMOSOME In the nucleus of each cell, the DNA molecule is packaged into thread-like structures called chromosomes. Each chromosome is made up of DNA tightly coiled many times around proteins called histones that support its structure. Chromosomes are not visible in the cells nucleusnot even under a microscopewhen the cell is not dividing. However, the DNA that makes up chromosomes becomes more tightly packed during cell division and is then visible under a microscope. Most of what researchers know about chromosomes was learned by observing chromosomes during cell division. Each chromosome has a constriction point called the centromere, which divides the chromosome into two sections, or arms. The short arm of the chromosome is labeled the p arm. The long arm of the chromosome is labeled the q arm. The location of the centromere on each chromosome gives the chromosome its characteristic shape, and can be used to help describe the location of specific genes. DNA and histone proteins are packaged into structures called chromosomes.

How many chromosomes do people have? In humans, each cell normally contains 23 pairs of chromosomes, for a total of 46. Twenty-two of these pairs, called autosomes, look the same in both males and females. The 23rd pair, the sex chromosomes, differ between males and females. Females have two copies of the X chromosome, while males have one X and oneY chromosome. The 22 autosomes are numbered by size. The other two chromosomes, X and Y, are the sex chromosomes. This picture of the human chromosomes lined up in pairs is called a karyotype.

DNA replication
From Wikipedia, the free encyclopedia
DNA replication. The double helix is unwound and each strand acts as a template for the next strand. Bases are matched to synthesize the new partner strands.

DNA replication is the process of producing two identical replicas from one original DNA molecule. This biological process occurs in all living organisms and is the basis for biological inheritance. DNA is made up of two strands and each strand of the original DNA molecule serves as template for the production of the complementary strand, a process referred to as semiconservative replication. Cellular proofreading and error-checking mechanisms ensure near perfect fidelity for [1][2] DNA replication.

In

a cell, DNA replication begins at specific locations, or origins of replication, in [3] the genome. Unwinding of DNA at the origin and synthesis of new strands results in replication forks growing bidirectionally from the origin. A number of proteins are associated with the replication fork which helps in terms of the initiation and continuation of DNA synthesis. Most prominently, DNA polymerase synthesizes the new DNA by adding complementary nucleotides to the template strand. DNA replication can also be performed in vitro (artificially, outside a cell). DNA polymerases isolated from cells and artificial DNA primers can be used to initiate DNA synthesis at known sequences in a template DNA molecule. The polymerase chain reaction (PCR), a common laboratory technique, cyclically applies such artificial synthesis to amplify a specific target DNA fragment from a pool of DNA.

DNA usually exists as a double-stranded structure, with both strands coiled together to form the characteristic double-helix. Each single strand of DNA is a chain of four types of nucleotides. Nucleotides in DNA contain a deoxyribose sugar, a phosphate, and a nucleobase. The four types ofnucleotide correspond to the four nucleobases adenine, cytosine, guanine, and thymine, commonly abbreviated as A,C, G and T. Adenine and guanine are purine bases, while cytosine and thymine are pyrimidines. These nucleotides form phosphodiester bonds, creating the phosphate-deoxyribose backbone of the DNA double helix with the nucleobases pointing inward. Nucleotides (bases) are matched between strands through hydrogen bonds to form base pairs. Adenine pairs with thymine (two hydrogen bonds), and guanine pairs with cytosine (stronger: three hydrogen bonds). DNA strands have a directionality, and the different ends of a single strand are called the "3' (three-prime) end" and the "5' (five-prime) end". By convention, if the base sequence of a single strand of DNA is given, the left end of the sequence is 5' end, while the right end of the sequence is the 3' end. The strands of the double helix are anti-parallel with one being 5' to 3', and the opposite strand 3' to 5'. These terms refer to the carbon atom in deoxyribose to which the next phosphate in the chain attaches. Directionality has consequences in DNA synthesis, because DNA polymerase can synthesize DNA in only one direction by adding nucleotides to the 3' end of a DNA strand. The pairing of complementary bases in DNA through hydrogen bonding means that the information contained within each strand is redundant. The nucleotides on a single strand can be used to reconstruct [4] nucleotides on a newly synthesized partner strand. Enzyme Function in DNA replication

DNA Helicase

Also known as helix destabilizing enzyme. Unwinds the DNA double helix at the Replication Fork.

DNA Polymerase

Builds a new duplex DNA strand by adding nucleotides in the 5' to 3' direction. Also performs proof-reading and error correction.

DNA clamp

A protein which prevents DNA polymerase III from dissociating from the DNA parent strand.

Single-Strand (SSB) Proteins

Binding Bind to ssDNA and prevent the DNA double helix from re-annealing after DNA helicase unwinds it, thus maintaining the strand separation.

Topoisomerase

Relaxes the DNA from its super-coiled nature.

DNA Gyrase

Relieves strain of unwinding by DNA helicase; this is a specific type of topoisomerase

DNA Ligase

Re-anneals the semi-conservative strands and joins Okazaki Fragments of the lagging strand.

Primase

Provides a starting point of RNA (or DNA) for DNA polymerase to begin synthesis of the new DNA strand.

Telomerase

Lengthens telomeric DNA by adding repetitive nucleotide sequences to the ends of eukaryotic chromosomes.

Simplified diagram of mRNA synthesis and processing. Enzymes not shown.

Transcription is the first step of gene expression, in which a particular segment of DNA is copied
into RNA by the enzyme RNA polymerase. Both RNA and DNA are nucleic acids, which use base pairs of nucleotidesas a complementary language that can be converted back and forth from DNA to RNA by the action of the correct enzymes. During transcription, a DNA sequence is read by an RNA polymerase, which produces a complementary, antiparallel RNA strand called a primary transcript. As opposed to DNA replication, transcription results in an RNA complement that includes the nucleotide uracil (U) in all instances where thymine (T) would have occurred in a DNA complement. Also unlike DNA replication where DNA is synthesized, transcription does not involve an RNA primer to initiate RNA synthesis.

Transcription can be reduced to the following steps, each moving like a wave along the DNA. 1. One or more sigma factors initiate transcription of a gene by enabling binding of RNA polymerase to promoter DNA. 2. RNA polymerase moves a transcription bubble, like the slider of a zipper, which splits the double helix DNA molecule into two strands of unpaired DNA nucleotides, by breaking the hydrogen bonds between complementary DNA nucleotides. 3. RNA polymerase adds matching RNA nucleotides that are paired with complementary DNA nucleotides of one DNA strand. 4. RNA sugar-phosphate backbone forms with assistance from RNA polymerase to form an RNA strand. 5. Hydrogen bonds of the untwisted RNA + DNA helix break, freeing the newly synthesized RNA strand. 6. If the cell has a nucleus, the RNA may be further processed (with the addition of a 3'UTR poly-A tail and a 5'UTR cap) and exits to the cytoplasm through the nuclear pore complex. The stretch of DNA transcribed into an RNA molecule is called a transcription unit and encodes at least one gene. If the gene transcribed encodes a protein, the result of transcription is messenger RNA (mRNA), which will then be used to create that protein via the process of translation. Alternatively, the transcribed gene may encode for either non-coding RNA genes (such as microRNA, lincRNA, etc.) or ribosomal RNA(rRNA) or transfer RNA (tRNA), other components of the protein-assembly process, or [1] other ribozymes. A DNA transcription unit encoding for a protein contains not only the sequence that will eventually be directly translated into the protein (the coding sequence) but also regulatory sequences that direct and regulate the synthesis of that protein. The regulatory sequence before (i.e., upstream from) the coding sequence is called the five prime untranslated region (5'UTR), and the sequence following [1] (downstream from) the coding sequence is called the three prime untranslated region (3'UTR). Transcription has some proofreading mechanisms, but they are fewer and less effective than the controls [2] for copying DNA; therefore, transcription has a lower copying fidelity than DNA replication. As in DNA replication, DNA is read from 3' end 5' end during transcription. Meanwhile, the complementary RNA is created from the 5' end 3' end direction. This means its 5' end is created first in base pairing. Although DNA is arranged as two antiparallel strands in a double helix, only one of the two DNA strands, called the template strand, is used for transcription. This is because RNA is only singlestranded, as opposed to double-stranded DNA. The other DNA strand (the non-template strand) is called the coding strand, because its sequence is the same as the newly created RNA transcript (except for the substitution of uracil for thymine). The use of only the 3' end 5' end strand eliminates the need for [1] the Okazaki fragments seen in DNA replication. In virology, the term may also be used when referring to mRNA synthesis from a RNA molecule (i.e. RNA replication). For instance, the genome of an negative-sense single-stranded RNA (ssRNA -) virus may serve as a template to transcribe a positive-sense single-stranded RNA (ssRNA +) molecule, since the positive-sense strand contains the information needed to translate the viral proteins for viral replication afterwards. This process is catalysed by a viral RNA replicase