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Genetics

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Chromosomal VariationsChromosomal Variations
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C

The Genetic Code

The structure of DNA encodes all the information every cell needs to function and thrive. In addition, DNA carries hereditary information in a form that can be copied and passed intact from generation to generation. A gene is a segment of DNA. The biochemical instructions found within most genes, known as the genetic code, specify the chemical structure of a particular protein. Proteins are composed of long chains of amino acids, and the specific sequence of these amino acids dictates the function of each protein. The DNA structure of a gene determines the arrangement of amino acids in a protein, ultimately determining the type and function of the protein manufactured.

C 1

DNA Structure

DNA molecules form from chains of building blocks called nucleotides. Each nucleotide consists of a sugar molecule called deoxyribose that bonds to a phosphate molecule and to a nitrogen-containing compound, known as a base. DNA uses four bases in its structure: adenine (A), cytosine (C), guanine (G), and thymine (T). The order of the bases in a DNA molecule—the genetic code—determines the amino acid sequence of a protein.

In the cells of most organisms, two long strands of DNA join in a single molecule that resembles a spiraling ladder, commonly called a double helix. Alternating phosphate and sugar molecules form each side of this ladder. Bases from one DNA strand join with bases from another strand to form the rungs of the ladder, holding the double helix together.

The pairing of bases in the DNA double helix is highly specific—adenine always joins with thymine, and guanine always links to cytosine. These base combinations, known as complementary base pairing, play a fundamental role in DNA’s function by aiding in the replication and storage of genetic information. Complementary base pairing also enables scientists to predict the sequence of bases on one strand of a DNA molecule if they know the order on the corresponding, or complementary, DNA strand. Scientists use complementary base pairing to help identify the genes on a particular chromosome and to develop methods used in genetic engineering.



Genes line up in a row along the length of a DNA molecule. In humans a single gene can vary in length from 100 to over 1,000,000 bases. Genes make up less than 2 percent of the length of a DNA molecule. The rest of the DNA molecule is made up of long, highly repetitive nucleotide sequences. Once dismissed as “junk” DNA, scientists now believe these nucleotide sequences may play a role in the survival of cells. Identifying the function of these sequences is a thriving field of genetics research.

C 2

DNA Replication

In order for inherited traits to be transmitted from parent to child, the genetic information encoded in DNA must be copied with great precision during cell division. The accuracy of DNA replication depends upon the complementary pairing of bases. During replication, the DNA double helix unwinds and bonds joining the base pairs break, separating the DNA molecule into two separate strands. Each strand of DNA directs the synthesis of another complementary strand. The unpaired bases of each DNA strand attach to bases floating within the cell. But the DNA strand’s unpaired bases bond only with specific, complementary bases—for example, an adenine base will bond only with a thymine base and a cytosine bases will pair only with a guanine base.

Once all of the bases of a DNA strand bond to complementary bases, the complementary bases then link to each other, forming a new DNA double-helix molecule. Thus the original DNA molecule replicates into two DNA molecules that are exact duplicates.

D

Protein Synthesis

DNA replication ensures that the genetic instructions encoded in DNA can be used continuously through generations to produce the proteins that build and operate the cells of an organism. The process of tapping the genetic code to create proteins, known as protein synthesis, has two crucial steps: transcription and translation.

D 1

Transcription

Transcription transfers the genetic code from a molecule of DNA to an intermediary molecule called ribonucleic acid (RNA). The basic nucleotide structure of RNA resembles that of DNA, but the two compounds have three critical differences. First, the structure of RNA incorporates the sugar ribose rather than deoxyribose, the sugar in DNA. Second, RNA uses the base uracil (U) instead of thymine (T). In RNA uracil binds with adenine just as thymine does in DNA. Third, RNA usually exists as a single strand, unlike the double-helix structure that normally characterizes DNA.

Transcription involves the production of a special kind of RNA known as messenger RNA (mRNA). The process begins when the two strands of a DNA molecule separate, a task directed by the enzyme RNA polymerase. After the double helix splits apart, one of the strands serves as a template, or pattern, for the formation of a complementary mRNA molecule. Free-floating individual bases within the cell bind to the bases on the DNA template using complementary base pairing. The individual bases then link together to form a strand of mRNA.

In eukaryotes (organisms whose cells have a nucleus), the mRNA strand undergoes an additional step before the next stage of protein synthesis can occur. The mRNA strand consists of coding regions called exons separated by regions called introns. The introns do not contribute to protein synthesis. Special enzymes in the nucleus remove the introns from the mRNA strand. The remaining exons then link together to form an mRNA strand that contains the entire code for making a protein.

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