An individual with Prader-Willi syndrome caused by a deletion (15q11) produced an offspring with Angelman syndrome. Explain the underlying cause of each syndrome in these individuals. Give the sex of the parent with Prader-Willi syndrome syndrome and of the offspring with Angelman syndrome. Most cases of Prader-Willi syndrome (75%) are the result of a deletion, however in 25% of individuals with the syndrome there is no deletion present. Speculate as to the possible cause of Prader-Willi syndrome in the absence of a deletion.
An individual with Prader-Willi syndrome caused by a deletion (15q11) produced an offspring with Angelman syndrome. Explain the underlying cause of each syndrome in these individuals. Give the sex of the parent with Prader-Willi syndrome syndrome and of the offspring with Angelman syndrome. Most cases of Prader-Willi syndrome (75%) are the result of a deletion, however in 25% of individuals with the syndrome there is no deletion present. Speculate as to the possible cause of Prader-Willi syndrome in the absence of a deletion.
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Read the following New York Times article and then answer the questions below and then answer the questions New Clues to Sex Anomalies in How Y Chromosomes Are Copied
http://www.nytimes.com/2009/09/15/science/15chrom.html?scp=1&sq=sex%20anomalies&st=cse
This activity contains 5 questions.
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You must make 2 reflective, thoughtful, deep, constructive critiques of your class mates posts. as part of a threaded discussion following their initial post. The critiques must not about you, but about science!
Here's the first peson. Needs to reply for some of her answers as it says above.
1. When discarding bad genes, the Y chromosomes recombines with itself.
2. The centromere functions to hold a pair of copied chromosomes together.
3. A person with Turnerâs syndrome is born with a single X chromosome.
4. The male-determining gene on the Y chromosome is located close to the end of the left arm.
5. An individual can have some cells with no Y chromosomes and other cells with double Y chromosomes, due to the differing variants present in regards to the genotypes of the cells in a single individual. When the Y chromosome is compared to other chromosomes such as the X chromosome, mutations and deviation in the distance of the centromere are much more prevalent due to the Y chromosome lacking a backup system to promote repairs.1 (Links to an external site.) Even if a mutation caused a condition such as the XYY syndrome where two Y chromosomes are present, that mutation and genotype would not be present in every single cell of the individual.2 (Links to an external site.) The presence of different genotypes offers an tentative explanation to as why a single individual can have some cells with no Y chromosomes while also housing other cells with double Y chromosomes.
Source 1 http://www.nytimes.com/2009/09/15/science/15chrom.html
Source 2 https://www.healthline.com/health/xyy-syndrome
Here's the second person. Needs to do the same as it says above.
1. Itself
2. Centromere
3. A single X chromosome
4. Close to the end of the left arm
5. Briefly explain how an individual can have some cells with no Y chromosome and other cells with a double-Y chromosome.
In some cases, the Y chromosome reaches over to a neighboring counterpart and the two chromosomes fuse. This results in the loss of part of the chromosome. Jacobâs Syndrome is sometimes also called XYY syndrome because the person has two Y chromosomes. Although a person can survive with this genetic mutation, some physical traits may be observed such as taller than average height, weak muscle development or late speech development.
Source 1 https://www.healthline.com/health/xyy-syndrome
Source 2 http://www.isna.org/faq/y_chromosome
Based on your success with âfakeproteinâ kidney disease, you start looking at other illnesses linked to the FP gene. It turns out that while there are no other human diseases known to be linked to it, there is a disease called Krazy Koala Syndrome and the KKS gene turns out to be very similar to FP in humans. The afflicted Koalaâs jump out of trees and attack the much larger animals for no reason, dying very young. When the brains of these Koala;s are evaluated, the have the spongiform character of Mad Cow Disease brains. This is typically caused by aggregates of the protein forming. Like before, there are normal KKS/FP proteins in other tissues. The KKS pre-mRNA looks like this:
Ca2+ bind dimerization Protease
| Exon | Intron | Exon | Intron | Exon |
The dark blocks are exons and the light blocks are introns. In normal Koalaâs, you find only the full length protein (all 3 exons) in most cells, but in neurons you only find the 1st and 2nd exons. In KKS Koalaâs you find a mix of the two proteins in neurons, but only the full length everywhere else.
A. There are two possible ways that alternative splicing can result in the formation of these two isoforms. What are they? What does each predict about the mutation that might be responsible for the phenotype?
B. Give an example of an experiment to test for one of these explanations. Describe what result would support the hypothesis.