Exam 18: Genomics: Genetics From a Whole-Genome Perspective

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How and why is the two-hybrid system used to find where two proteins interact? Use a real example.

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Two-hybrid screening is used to detect protein-protein or protein-DNA interactions by testing for physical binding.You will look for the activation of a reporter gene when a transcription factor binds to an upstream activating sequence.In a two-hybrid screen,the transcription factor is broken into two fragments: the binding domain (BD),which binds to the UAS,and the activation domain (AD),which activates transcription of the reporter gene.For instance,the yeast two-hybrid screen uses a protein that is translationally fused to a GalL4 BD and another protein to a Gal4 AD.If the proteins interact,the two Gal4 elements are brought together and transcription occurs.

The karyotypes of several primate species,such as chimpanzee and gorilla,show two nearly telocentric chromosomes as opposed to the single large metacentric chromosome 2 in humans.Does this demonstrate chromosome breakage or fusion at the time of lineage divergence?

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fusion

In 2000,when then President Clinton along with Francis Collins of the Human Genome Project and Craig Venter of Celera announced the completion of a "draft" of the human genome,the event did not,in fact,represent true completion because most of what type of sequences were not included?

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repetitive

Mammalian genomes all have a number of genes for globin polypeptides.Several of these genes are functional,but several are never expressed.What are the nonfunctional ones known as?

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Which of the following would likely exclude a sequence from being considered as an active gene?

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Species whose ancestors might once have been free living may now be present as parasites.Would their genomes now tend to be larger,smaller,or approximately the same in size and complexity?

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The splicing regulatory protein (SR)identifies exons to be included in mRNA.How might SR proteins regulate alternative splicing?

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In a simple bioinformatics exercise,students are asked to locate the beginning of an ORF among the six possible reading frames for a hypothetical DNA molecule.The first step in their process should involve looking for what sequence?

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In the 2009 article "Genomic Footprints of a Cryptic Plastic Endosymbiosis in Diatoms" (Science 324: 1724-26),Moustafa et al.described their search for possible gene transfer from organelles to the nucleus in diatom genomes.They assumed that diatomic plastids came from red algae.However,they found that most were from green algae.Which is most likely?

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Although whole-genome duplications that result in polyploidy are fairly common in plant species,which of the following are common in other eukaryotes?

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Very many related genes can be recognized by conserved protein domains.To what gene structures do these domains correlate?

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An Alu sequence is a kind of retrotransposon,and approximately 1.4 million of them are found in the human genome.As they move about in the genome,they generate mutation by what mechanism?

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Suppose that you have been able to partially sequence a significant number of cDNA clones from an as yet unsequenced insect genome.These clones are useful as what sequences that can help annotation?

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You are interested in sequencing the gene for Tangier disease (OMIM 205404).The disorder is rare,so it is feasible to obtain only very few samples.The approximate chromosomal location of the gene is known.How would you set about deciding on a model organism to use to study this disease,and what would you do once you had decided? (An outline of your procedure after the organism is chosen will be sufficient).

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Conserved noncoding sequences (CNGs)are usually sequences involved in what kinds of functions?

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A significant polymorphic inversion on chromosome 17,the MAPT inversion,is identified by marker SNPs that can now be used to screen large numbers in a population.The inverted region is large and extends for approximately 900 kb.The two haplotypes (one inverted and one not)are each associated with increased risk of a number of neurological conditions.How can the inverted region be used to find the most recent common ancestor of the inversion?

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A researcher has produced groups of contigs that are linked via paired end sequences,although these include some sequence gaps.What are these groups called?

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Genes can be assigned,relatively speaking,to the categories "essential" and "nonessential." In the identification of essential genes,a transposon can be inserted into a gene to inactivate it.The gene would then be identified as essential if the inactivation results in what?

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Suppose a geneticist sequences a specific gene region in two species,A and B,previously known to be closely related.He specifically wants to see which of the two species is closer to an ancestral species.The sequence comparison showed that this region in species B has an extra intron,unlike other near relatives,but that otherwise A and B are virtually the same for this region.Based on this data alone,he could reason that which species was more likely ancestral?

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An inherited human disorder,familial dysautonomia,results from a nucleotide mutation in the gene IKAP that is expressed in the nervous system.The decreased IKAP protein leads to abnormal development,and the resulting disease is usually fatal by age 30.The nucleotide change alters splicing.If this change affects only the nervous system and not the immune system,in which the gene is also expressed,what feature must be found in this gene?

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