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Describe what happens when a nonsense mutation is introduced into the gene encoding transposase within a transposon

Transposons,  also known as  jumping genes,  are segments of DNA that can move from one position in the genome to another. This movement depends on a special enzyme called  transposase,  which is produced by a gene located inside the transposon itself. The transposase enzyme performs important functions like cutting the transposon from one place and helping it to insert into another. For the transposon to move, the transposase must be produced correctly and completely. When a  nonsense mutation  occurs in the transposase gene, it replaces a codon that normally codes for an amino acid with a  stop codon.  This causes the ribosome to stop protein synthesis early, resulting in a shortened and usually non-functional transposase enzyme. This leads to several important changes inside the cell. These changes are mainly: 1. Early Termination of Transposase Production The nonsense mutation introduces a premature stop codon in the transposase gene. Thi...

How does DNA polymerase attempt to correct mismatches during DNA replication?

DNA polymerase  is the enzyme that makes a new DNA strand by reading the  existing  strand as a template. It adds nucleotides  one by one  to form a complementary strand. But sometimes, it inserts the wrong nucleotide that does not correctly match the template base. This causes a mismatch in the DNA sequence, which can lead to mutations if not fixed. To prevent such errors, DNA polymerase has a special ability called  proofreading,  which acts as the  first line of defense  during replication. This proofreading helps detect and correct mismatches immediately. The process happens in several steps: 1. Mismatch Detection As the polymerase adds each nucleotide, it checks whether the newly added base forms a proper base pair with the template base. The correct base pairing forms a regular and stable structure, but a mismatch creates a bulge or irregular shape. This structural distortion is immediately detected by DNA polymerase. 2. Pause in Replic...

What is depurination and deamination? Describe the repair systems that operate after depurination and deamination

Depurination  and  deamination  are two types of  spontaneous mutations  that occur naturally within the DNA of cells. These are not caused by external agents but happen due to chemical instability in DNA under normal cellular conditions. Both processes can lead to mutations if not repaired in time, but cells have efficient repair mechanisms, especially the  Base Excision Repair (BER)  pathway, that work to correct these damages and maintain the genetic integrity of the organism. Depurination Depurination refers to the loss of a  purine base,  which is either adenine or guanine, from the DNA. This occurs when the N-glycosidic bond between the purine base and the deoxyribose sugar breaks due to hydrolysis. As a result, the base is removed but the sugar-phosphate backbone of the DNA remains intact. The site from where the purine base is lost is called an  apurinic site (AP site). If this AP site is not repaired before DNA replication, the ...

How does radiation therapy work?

Radiation therapy is a treatment method that works by using  ionizing radiation to damage or destroy unwanted cells in the body.  This therapy is most commonly used to control or eliminate abnormal cell growth. The core idea behind radiation therapy is to deliver energy into the tissues in such a way that it damages the DNA inside the cells. Once the DNA is damaged beyond repair, the cells lose their ability to divide and eventually die. The working of radiation therapy is not based on general heating or burning of tissue. Instead, it is based on precise physical and biological effects caused by high-energy radiation. The therapy uses highly focused radiation so that diseased or fast-dividing cells are affected more than normal cells. To clearly understand how radiation therapy works, we need to study it in six main steps or components, which are: Type of radiation used (ionizing radiation) Mechanism of DNA damage (direct and indirect) Cellular response to DNA damage Radiation...

Why are autosomal monosomies not recovered in live-born individuals?

In normal human cells, there are 46 chromosomes, arranged in 23 pairs. Out of these, 22 pairs are autosomes (non-sex chromosomes) and 1 pair is sex chromosomes (XX in females and XY in males). A monosomy means that  one chromosome from a pair is missing,  so only one copy is present instead of two. When this happens to a sex chromosome, sometimes the individual can survive (like in Turner syndrome where one X chromosome is missing). But when this happens to an  autosome, it is called autosomal monosomy  and this condition is almost  always fatal.  Such embryos usually do not survive and result in early miscarriage, which is why autosomal monosomies are not seen in live-born individuals. There are the following main reasons why autosomal monosomies are not recovered in live births: 1. Severe gene dosage imbalance Each autosome contains many essential genes. Normally, both copies of each gene help maintain a balance in the amount of proteins and enzymes made ...

Why does the probability of a non-disjunction ton increase increase in women with age?

Non-disjunction is a type of chromosomal segregation error that occurs during cell division, particularly  meiosis,  when homologous chromosomes or sister chromatids fail to separate properly. This leads to gametes with abnormal numbers of chromosomes. In humans, non-disjunction during female meiosis is the main cause of  aneuploidy,  including conditions like Down syndrome (Trisomy 21), Turner syndrome (Monosomy X), and Klinefelter syndrome (XXY). Many studies have shown that the risk of non-disjunction increases with maternal age, especially after the  age of 35.  This is considered one of the most important biological factors in age-related decline in female fertility and increase in chromosomal abnormalities in offspring. There are four major reasons that explain why this risk increases with age in women: Prolonged meiotic arrest of oocytes Age-related loss of cohesion proteins Weakening of the spindle assembly checkpoint Age-related cellular and enviro...

What is the principle of spectral karyotyping?

The principle of spectral karyotyping (SKY) is based on  fluorescence in situ hybridization (FISH)  using  chromosome-specific DNA probes,  each labeled with a unique combination of fluorochromes. Although  only five different  fluorescent dyes are used, they are mixed in specific ratios so that each chromosome gets a unique combination of colors. This creates a specific spectral signature for every chromosome. These labeled probes are hybridized to metaphase chromosomes fixed on a glass slide. After hybridization, a fluorescence microscope with a spectral imaging system is used to detect the signals. The spectral imaging system captures the wavelength emission pattern from each chromosome. Then, spectral unmixing algorithms are applied through a computer system to separate and identify the unique color of each chromosome. In short, principle of spectral karyotyping works on the idea that: Each chromosome is labeled with a unique color code using combinatio...

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