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Illustration shows a DNA strand in which a thymine dimer has formed. Excision repair enzyme cut out the section of DNA that contains the dimer so it can be replaced with normal base pairs.
Nucleotide excision repairs thymine dimers. When exposed to UV, thymines lying adjacent to each other can form thymine dimers. In normal cells, they are excised and replaced.

A well-studied example of mistakes not being corrected is seen in people suffering from xeroderma pigmentosa ( [link] ). Affected individuals have skin that is highly sensitive to UV rays from the sun. When individuals are exposed to UV, pyrimidine dimers, especially those of thymine, are formed; people with xeroderma pigmentosa are not able to repair the damage. These are not repaired because of a defect in the nucleotide excision repair enzymes, whereas in normal individuals, the thymine dimers are excised and the defect is corrected. The thymine dimers distort the structure of the DNA double helix, and this may cause problems during DNA replication. People with xeroderma pigmentosa may have a higher risk of contracting skin cancer than those who dont have the condition.

Photo shows a person with mottled skin lesions that result from xermoderma pigmentosa.
Xeroderma pigmentosa is a condition in which thymine dimerization from exposure to UV is not repaired. Exposure to sunlight results in skin lesions. (credit: James Halpern et al.)

Errors during DNA replication are not the only reason why mutations arise in DNA. Mutations , variations in the nucleotide sequence of a genome, can also occur because of damage to DNA. Such mutations may be of two types: induced or spontaneous. Induced mutations are those that result from an exposure to chemicals, UV rays, x-rays, or some other environmental agent. Spontaneous mutations occur without any exposure to any environmental agent; they are a result of natural reactions taking place within the body.

Mutations may have a wide range of effects. Some mutations are not expressed; these are known as silent mutations . Point mutations are those mutations that affect a single base pair. The most common nucleotide mutations are substitutions, in which one base is replaced by another. These can be of two types, either transitions or transversions. Transition substitution refers to a purine or pyrimidine being replaced by a base of the same kind; for example, a purine such as adenine may be replaced by the purine guanine. Transversion substitution refers to a purine being replaced by a pyrimidine, or vice versa; for example, cytosine, a pyrimidine, is replaced by adenine, a purine. Mutations can also be the result of the addition of a base, known as an insertion, or the removal of a base, also known as deletion. Sometimes a piece of DNA from one chromosome may get translocated to another chromosome or to another region of the same chromosome; this is also known as translocation. These mutation types are shown in [link] .

Art connection

Illustration shows different types of point mutations that result from a single amino acid substitution. In a silent mutation, no change in the amino acid sequence occurs. In a missense mutation, one amino acid is substituted for another. In a nonsense mutation, a stop codon is substituted for an amino acid. In a frameshift mutation, one or more bases is added or deleted, resulting in a change in the reading frame.
Mutations can lead to changes in the protein sequence encoded by the DNA.

A frameshift mutation that results in the insertion of three nucleotides is often less deleterious than a mutation that results in the insertion of one nucleotide. Why?

Mutations in repair genes have been known to cause cancer. Many mutated repair genes have been implicated in certain forms of pancreatic cancer, colon cancer, and colorectal cancer. Mutations can affect either somatic cells or germ cells. If many mutations accumulate in a somatic cell, they may lead to problems such as the uncontrolled cell division observed in cancer. If a mutation takes place in germ cells, the mutation will be passed on to the next generation, as in the case of hemophilia and xeroderma pigmentosa.

Section summary

DNA polymerase can make mistakes while adding nucleotides. It edits the DNA by proofreading every newly added base. Incorrect bases are removed and replaced by the correct base, and then a new base is added. Most mistakes are corrected during replication, although when this does not happen, the mismatch repair mechanism is employed. Mismatch repair enzymes recognize the wrongly incorporated base and excise it from the DNA, replacing it with the correct base. In yet another type of repair, nucleotide excision repair, the incorrect base is removed along with a few bases on the 5' and 3' end, and these are replaced by copying the template with the help of DNA polymerase. The ends of the newly synthesized fragment are attached to the rest of the DNA using DNA ligase, which creates a phosphodiester bond.

Most mistakes are corrected, and if they are not, they may result in a mutation defined as a permanent change in the DNA sequence. Mutations can be of many types, such as substitution, deletion, insertion, and translocation. Mutations in repair genes may lead to serious consequences such as cancer. Mutations can be induced or may occur spontaneously.

Art connections

[link] A frameshift mutation that results in the insertion of three nucleotides is often less deleterious than a mutation that results in the insertion of one nucleotide. Why?

[link] If three nucleotides are added, one additional amino acid will be incorporated into the protein chain, but the reading frame wont shift.

Questions & Answers

show that the set of all natural number form semi group under the composition of addition
Nikhil Reply
explain and give four Example hyperbolic function
Lukman Reply
_3_2_1
felecia
⅗ ⅔½
felecia
_½+⅔-¾
felecia
The denominator of a certain fraction is 9 more than the numerator. If 6 is added to both terms of the fraction, the value of the fraction becomes 2/3. Find the original fraction. 2. The sum of the least and greatest of 3 consecutive integers is 60. What are the valu
SABAL Reply
1. x + 6 2 -------------- = _ x + 9 + 6 3 x + 6 3 ----------- x -- (cross multiply) x + 15 2 3(x + 6) = 2(x + 15) 3x + 18 = 2x + 30 (-2x from both) x + 18 = 30 (-18 from both) x = 12 Test: 12 + 6 18 2 -------------- = --- = --- 12 + 9 + 6 27 3
Pawel
2. (x) + (x + 2) = 60 2x + 2 = 60 2x = 58 x = 29 29, 30, & 31
Pawel
ok
Ifeanyi
on number 2 question How did you got 2x +2
Ifeanyi
combine like terms. x + x + 2 is same as 2x + 2
Pawel
x*x=2
felecia
2+2x=
felecia
Mark and Don are planning to sell each of their marble collections at a garage sale. If Don has 1 more than 3 times the number of marbles Mark has, how many does each boy have to sell if the total number of marbles is 113?
mariel Reply
Mark = x,. Don = 3x + 1 x + 3x + 1 = 113 4x = 112, x = 28 Mark = 28, Don = 85, 28 + 85 = 113
Pawel
how do I set up the problem?
Harshika Reply
what is a solution set?
Harshika
find the subring of gaussian integers?
Rofiqul
hello, I am happy to help!
Shirley Reply
please can go further on polynomials quadratic
Abdullahi
hi mam
Mark
I need quadratic equation link to Alpa Beta
Abdullahi Reply
find the value of 2x=32
Felix Reply
divide by 2 on each side of the equal sign to solve for x
corri
X=16
Michael
Want to review on complex number 1.What are complex number 2.How to solve complex number problems.
Beyan
yes i wantt to review
Mark
use the y -intercept and slope to sketch the graph of the equation y=6x
Only Reply
how do we prove the quadratic formular
Seidu Reply
please help me prove quadratic formula
Darius
hello, if you have a question about Algebra 2. I may be able to help. I am an Algebra 2 Teacher
Shirley Reply
thank you help me with how to prove the quadratic equation
Seidu
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Opoku
what is math number
Tric Reply
4
Trista
x-2y+3z=-3 2x-y+z=7 -x+3y-z=6
Sidiki Reply
can you teacch how to solve that🙏
Mark
Solve for the first variable in one of the equations, then substitute the result into the other equation. Point For: (6111,4111,−411)(6111,4111,-411) Equation Form: x=6111,y=4111,z=−411x=6111,y=4111,z=-411
Brenna
(61/11,41/11,−4/11)
Brenna
x=61/11 y=41/11 z=−4/11 x=61/11 y=41/11 z=-4/11
Brenna
Need help solving this problem (2/7)^-2
Simone Reply
x+2y-z=7
Sidiki
what is the coefficient of -4×
Mehri Reply
-1
Shedrak
A soccer field is a rectangle 130 meters wide and 110 meters long. The coach asks players to run from one corner to the other corner diagonally across. What is that distance, to the nearest tenths place.
Kimberly Reply
Jeannette has $5 and $10 bills in her wallet. The number of fives is three more than six times the number of tens. Let t represent the number of tens. Write an expression for the number of fives.
August Reply
What is the expressiin for seven less than four times the number of nickels
Leonardo Reply
How do i figure this problem out.
how do you translate this in Algebraic Expressions
linda Reply
why surface tension is zero at critical temperature
Shanjida
I think if critical temperature denote high temperature then a liquid stats boils that time the water stats to evaporate so some moles of h2o to up and due to high temp the bonding break they have low density so it can be a reason
s.
Need to simplify the expresin. 3/7 (x+y)-1/7 (x-1)=
Crystal Reply
. After 3 months on a diet, Lisa had lost 12% of her original weight. She lost 21 pounds. What was Lisa's original weight?
Chris Reply
what does post-translational control refer to?
Teresa Reply
Bioremediation includes
Rachel Reply

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Source:  OpenStax, Ucd bis2a intro to biology v1.2. OpenStax CNX. Sep 22, 2015 Download for free at https://legacy.cnx.org/content/col11890/1.1
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