EBK CONCEPTS OF GENETICS
EBK CONCEPTS OF GENETICS
12th Edition
ISBN: 9780134818979
Author: Killian
Publisher: YUZU
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Chapter 8, Problem 1PDQ

HOW DO WE KNOW? In this chapter, we have focused on chromosomal mutations resulting from a change in number or arrangement of chromosomes. In our discussions, we found many opportunities to consider the methods and reasoning by which much of this information was acquired. From the explanations given in the chapter, what answers would you propose to the following fundamental questions?

  1. (a) How do we know that the extra chromosome causing Down syndrome is usually maternal in origin?
  2. (b) How do we know that human aneuploidy for each of the 22 autosomes occurs at conception, even though most often human aneuploids do not survive embryonic or fetal development and thus are never observed at birth?
  3. (c) How do we know that specific mutant phenotypes are due to changes in chromosome number or structure?
  4. (d) How do we know that the mutant Bar-eye phenotype in Drosophila is due to a duplicated gene region rather than to a change in the nucleotide sequence of a gene?
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"One of the symmetry breaking events in mouse gastrulation requires the amplification of Nodal on the side of the embryo opposite to the Anterior Visceral Endoderm (AVE). Describe one way by which Nodal gets amplified in this region." My understanding of this is that there are a few ways nodal is amplified though I'm not sure if this is specifically occurs on the opposite side of the AVE.  1. pronodal cleaved by protease -> active nodal 2. Nodal -> BMP4 -> Wnt-> nodal 3. Nodal-> Nodal, Fox1 binding site  4. BMP4 on outside-> nodal  Are all of these occuring opposite to AVE?

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EBK CONCEPTS OF GENETICS

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Mitochondrial mutations; Author: Useful Genetics;https://www.youtube.com/watch?v=GvgXe-3RJeU;License: CC-BY