EBK GENETICS: FROM GENES TO GENOMES
6th Edition
ISBN: 9781260041255
Author: HARTWELL
Publisher: MCGRAW HILL BOOK COMPANY
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Chapter 12, Problem 33P
Cornelia de Lange syndrome (CdLS) is a rare human disease caused by a dominant loss-of-function mutation in any one of at least five different genes, all of which encode components or regulators of the cohesin protein complex. People with CdLS have a wide range of morphological abnormalities, growth retardation, and mental impairment. Analysis of CdLS patients shows that in addition to chromosomal mis-segregation during cell division, their abnormal
a. | In different families, CdLS can show an autosomal dominant or X-linked dominant inheritance pattern. How is this possible? |
b. | Explain how a loss-of-function allele in a gene encoding a cohesin protein could be dominant to its wild-type counterpart. |
c. | CdLS is usually caused by new mutation in one parent’s gamete. Why? |
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Cornelia de Lange syndrome (CdLS) is a rare humandisease caused by a dominant loss-of-function mutation in any one of at least five different genes, all ofwhich encode components or regulators of the cohesin protein complex. People with CdLS have a widerange of morphological abnormalities, growth retardation, and mental impairment. Analysis of CdLS patients shows that in addition to chromosomalmis-segregation during cell division, their abnormalphenotype is likely due to widespread mis-regulationof gene expression during development. Cohesin mayplay a role in organizing chromatin loops necessaryfor proper regulation of transcription. (You will learnmore about this topic in Chapter 17.)a. In different families, CdLS can show an autosomaldominant or X-linked dominant inheritance pattern. How is this possible?b. Explain how a loss-of-function allele in a gene encoding a cohesin protein could be dominant to itswild-type counterpart.c. CdLS is usually caused by new mutation in oneparent’s…
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Chapter 12 Solutions
EBK GENETICS: FROM GENES TO GENOMES
Ch. 12 - For each of the terms in the left column, choose...Ch. 12 - Many proteins other than histones are found...Ch. 12 - What difference exists between the compaction of...Ch. 12 - What is the role of the core histones in...Ch. 12 - a. About how many molecules of histone H2A would...Ch. 12 - The enzyme micrococcal nuclease can cleave...Ch. 12 - a. What letters are used to represent the short...Ch. 12 - About 2000 G bands are visible in a...Ch. 12 - Suppose you performed a fluorescence in situ...Ch. 12 - Which of the following would be suggested by a...
Ch. 12 - For each of the following pairs of chromatin...Ch. 12 - a. Drosophila b. Humans Give examples of...Ch. 12 - One histone modification that is seen consistently...Ch. 12 - Recently, scientists constructed a transgene that...Ch. 12 - Drosophila geneticists have isolated many...Ch. 12 - On the following figures, genes A and B are on the...Ch. 12 - Prob. 17PCh. 12 - The first page of this chapter displays photos of...Ch. 12 - The human genome contains about 3 billion base...Ch. 12 - The mitotic cell divisions in the early embryo of...Ch. 12 - In an experiment published in the journal Cell in...Ch. 12 - a. What DNA sequences are found at the telomeres...Ch. 12 - Prob. 23PCh. 12 - a. In a fluorescent in situ hybridization FISH...Ch. 12 - If you are comparing the two telomeres in each...Ch. 12 - a. What DNA sequences are commonly found at human...Ch. 12 - On the graphs presented in Problem 21, no data is...Ch. 12 - Prob. 29PCh. 12 - Prob. 30PCh. 12 - In the 1920s, Barbara McClintock, later a Nobel...Ch. 12 - Give at least one example of a chromosomal...Ch. 12 - Cornelia de Lange syndrome CdLS is a rare human...Ch. 12 - a. Give at least three examples of types of...Ch. 12 - A number of yeast-derived elements were added to...Ch. 12 - Prob. 36PCh. 12 - The completely synthetic yeast chromosome Syn III...
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