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Somatic mutations occur in non-reproductive cells and won't be passed onto offspring.

The only mutations that matter to large-scale evolution are those that can be passed on to offspring. These occur in reproductive cells like eggs and sperm and are called germ line mutations Single germ line mutation can have a range of effects: 1. No change occurs in phenotype. Some mutations don't have any noticeable effect on the phenotype of an organism. This can happen in many situations: perhaps the mutation occurs in a stretch of DNA with no function, or perhaps the mutation occurs in a protein-coding region, but ends up not affecting the amino acid sequence of the protein.

2. Small change occurs in phenotype. A single mutation caused this cat's ears to curl backwards slightly.

3. Big change occurs in phenotype. Some really important phenotypic changes, like DDT resistance in insects are sometimes caused by single mutations. A single mutation can also have strong negative effects for the organism. Mutations that cause the death of an organism are called lethals and it doesn't get more negative than that.

Some regions of DNA control other genes, determining when and where other genes are turned "on". Mutations in these parts of the genome can substantially change the way the organism is built. Similarly, a mutation in a gene "conductor" can cause a cascade of effects in the behavior of genes under its control. Hox genes are found in many animals (including flies and humans) and designate where the head goes and which regions of the body grow appendages. Such master control genes help direct the building of body "units," such as segments, limbs, and eyes. So evolving a major change in basic body layout may not be so unlikely; it may simply require a change in a Hox gene and the favor of natural selection. Mutations can be beneficial, neutral, or harmful for the organism, but mutations do not "try" to supply what the organism "needs." Factors in the environment may influence the rate of mutation but are not generally thought to influence the direction of mutation. For example, exposure to harmful chemicals may increase the mutation rate, but will not cause more mutations that make the organism resistant to those chemicals.

Experiments have made it clear that many mutations are in fact random, and did not occur because the organism was placed in a situation where the mutation would be useful. For example, if you expose bacteria to an antibiotic, you will likely observe an increased prevalence of antibiotic resistance. Esther and Joshua Lederberg determined that many of these mutations for antibiotic resistance existed in the population even before the population was exposed to the antibiotic and that exposure to the antibiotic did not cause those new resistant mutants to appear.

Effects of mutation: Sickle cell anemia Level of DNA: The base, Adenine, is replaced by Thiamine in the codon GAG is which codes for glutamic acid. This causes a change in the amino acid sequence as the codon GTG codes for Valine.

Level of the protein: mutation in the DNA slightly changes the shape of the hemoglobin molecule, allowing it to clump together.

Level of the cell: When red blood cells carrying mutant hemoglobin are deprived of oxygen, they become "sickle-shaped" instead of the usual round shape (see picture). This shape can sometimes interrupt blood flow.

Negative effects at the whole organism level: Under conditions such as high elevation and intense exercise, a carrier of the sickle cell allele may occasionally show symptoms such as pain and fatigue.

Positive effects at the whole organism level: Carriers of the sickle cell allele are resistant to malaria, because the parasites that cause this disease are killed inside sickle-shaped blood cells.

Evolutionary change is based on the accumulation of many mutations, each having a small effect. Whether the mutations are large or small, however, the same chain of causation applies: changes at the DNA level propagate up to the phenotype.

A substitution is a mutation that exchanges one base for another (i.e., a change in a single "chemical letter" such as switching an A to a G). Missense/Substitution mutation occurs when one of the bases in a codon is altered such that the base pair involved will no longer code for the same protein but will now code for a completely different protein for e.g. Cytosine replaced with Adenine on the gene.

Nonsense/Substitution mutation - alteration of one base occurs and instead of having a different amino acid produced, it signals the cell to stop manufacturing the protein. The result is a truncated protein which is unable to catalyze its product.

Silent/Substitution mutation- change in the last base of a codon but encodes the same amino acid and causes no change in the protein produced e.g. glycine (Gly) is coded for by GGT, GGC, GGA and GGG. An alteration in the last base will cause the coding of glycine.

Insertion- Are mutations whereby an extra base is added to the DNA sequence

Deletion- Are mutations whereby a base is deleted from the DNA sequence

Splicing mutations can produce terminal or internal deletions, for example by exon skipping which results in a truncated protein

Addition or deletion of one base in a codon changes the amino acid sequence order during translation when the mRNA transcribed from the DNA is translated. Either an extra amino acid is added to the polypeptide chain which will form the protein or an amino acid is deleted from the polypeptide. In both cases, the three-dimensional structure of the protein will be affected.

Cystic fibrosis Cystic fibrosis is an inherited disease which affects the lungs and digestive system. It results from mutation in a gene responsible for making a protein which is involved in the transport of ions across cell boundaries. The effect is to produce a sticky mucus which clogs the lungs and can lead to serious infection. A similar sticky mucus also blocks the pancreas (a part of the digestive system) which provides enzymes for breaking down food. This gets in the way of the processes which convert the food into molecules which can be absorbed by the body. The most common mutation causing this genetic disease is the deletion of the bases in the codon TTT coding for phenylalanine.

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