Mutations in genes that code for some hemidesmosome proteins can produce a simil
ID: 219382 • Letter: M
Question
Mutations in genes that code for some hemidesmosome proteins can produce a similar phenotype
in patients as mutations in genes that code for desmosome proteins. Why is this and what could the
phenotype be? 2 points
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2. DNAse-I hypersensitive sites are found in the regulatory region of active genes but are absent from
regions that are transcriptionally inactive. The accessibility of the DNA to DNAse-I determines the
amount of cleavage. Answer the following questions. (1 point each, 3 points total)
A. Would treatment of cells with histone deacetylases increase or decrease the number of
DNAse-I hypersensitivity sites?
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B. Would treatment of cells with DNA methyltransferase increase or decrease the number of
DNAse-I hypersensitivity sites?
__________________
C. Would treatment of cells with histone acetyltransferase increase or decrease the number of
DNAse-I hypersensitivity sites?
__________________
3. Researchers mixed two plates of cells, one being ovarian follicle granulosa cells and the second
cardiac muscle cells (which contract in response to norepinephrine). They noticed that the cardiac
cells responded to follicle stimulating hormone (FSH) by contracting, even though in unmixed plates
of cardiac muscle cells, there was no response. Answer the following 3 questions. (3 points)
A. What does FSH signaling produce to which cardiac cells may react? (1 pt)
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B. How would this compound be transferred to the cardiac cells? (1 pt)
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C. How could you test your answer experimentally in ‘b’? one sentence (1 point)
Explanation / Answer
BSD (blistering skin disorder results) results from mutation in genes that make cell to cell or cell to extracellular matrix complex. This disorder occurs due to dominant mutation in keratin 5 or keratin 14 genes. Desmosomes or hemidesmosomes help in the formation of complex using these genes. So, mutations in genes that code for some hemidesmosome proteins can produce a similar phenotype in patients as mutations in genes that code for desmosome proteins.
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