Reading 21

Question 1

When researchers released the “human reference genome” they actually released a reference genome that covers (or, includes) >90% of the “human genome”. What factors can you think would possibly prevent their sequencing of 100% of the genome?

Answer 1

-junk DNA, human error, rearranging protein domains

Question 2

When the human reference genome was released, how many genes were predicted to be present in the genome?

Answer 2

-2-120,000

Question 3

What date was the reference genome released?

Answer 3

-December 2013

Question 4

What is a major mechanism that “human complexity” can be explained by a genome with such a scarcity of genes? More specifically, how have humans been “thrifty” with their genes, as the author suggests?

Answer 4

-produce 2 proteins per gene instead of just 1

Question 5

How many genes had the researchers identified in human DNA whose relatives were most closely
related to bacteria?

Answer 5

-200+

Question 6

What is the evidence that suggests those genes were acquired at a more recent evolutionary past?

Answer 6

-analogous genes are not found in invertebrates

Question 7

What is “junk DNA”?

Answer 7

-DNA that does not code for a protein

Question 8

At the time, what as stated as the Consortium’s ultimate goal in producing a completely “finished” genome?

Answer 8

-no gaps, 99.99% accuracy

Question 9

What year was the goal of a >99.99% finished genome? Do you think they accomplished this goal?

Answer 9

-by 2003

Question 10

Given what we have learned during this course concerning mutation mechanisms, genetic variation, chromosomal variation and mutation, and retroelements (and polymorphic ones), how do you think the “reference genome” content is when compared with other members of the population (you, me, your classmates, your neighbors, everyone else)?

Answer 10

-same except where specific traits are different

Question 11

What is the significant challenge of alternative splicing to the human gene number and structure?

Answer 11

-challenging to identity in the sequence

Question 12

What are some factors that Eric Lander suggests could have contributed to the extinction, or near-extinction, of LTR retroposons in the humans genome when compared to the mouse genome?

Answer 12

-rodent population is higher than humans, genetic drift, interbreeding

Question 13

What are the four “varieties” of repeat elements, or “junk DNA”?

Answer 13

-extinct, near extinct, SINE, LINE