Lecture 5: The Human Genome Project and How we got here (watch lecture)

Question 1

When did we enter the genomic era?

Answer 1

In 1995

Question 2

Who created the first ever genome sequence of any organism?

Answer 2

J. Craig Venter

Question 3

What did J. Craig Venter sequence the genome of?

Answer 3

The prokaryote Haemophilus influenza Rd

Question 4

When was the human genome project proposed?

Answer 4

In 1986, although it didn’t start till 1990.

Question 5

When was the genome of the first archaea sequenced?

Answer 5

In 1996

Question 6

When was the genome of the fruit fly first sequenced?

Answer 6

In 1999

Question 7

When was the first draft of the human genome almost complete?

Answer 7

In 2001

Question 8

When did the human genome project formally end?

Answer 8

In 2003

Question 9

When was the genome of the chimanzee sequenced?

Answer 9

In 2005

Question 10

What is our closest living ancestor?

Answer 10

Chimpanzees

Question 11

When was the genome of Neanderthals sequenced?

Answer 11

In 2010

Question 12

What did the 1000 genomes project do?

Answer 12

It mapped all known genes involved in human variation

Question 13

What did the 100,000 genomes project do?

Answer 13

It mapped the genomes of people with genetic disease and of people who were more susceptible to genetic disease.

Question 14

When was the genetic test on breast cancer developed?

Answer 14

In 2019

Question 15

What is 8% of our genome?

Answer 15

heterochromatin

Question 16

What does heterochromatin include?

Answer 16

• Centromeres
• Telomeres
• X and Y chromosomes

Question 17

When was the telomere-to-telomere project completed?

Answer 17

In 2022

Question 18

When was the origins of the japanese people published? (3 evolutionary origins)

Answer 18

In 2024

Question 19

What were the goals of the human genome project?

Answer 19

1) Identify all of the genes in human DNA

2) Determine the sequences of the DNA base pairs that make up the human genome

3) Store this information in databases

4) Improve tools for data analysis

5) Transfer related technologies to the private sector

6) Address the ethical, legal, and social issues that may arise from the project.

Question 20

How many genes did the human genome project say that humans have?

Answer 20

22,000, which is much lower than expected (100,000).

Question 21

What % of our genome codes for proteins?

Answer 21

Only 1.5 %

Question 22

How big is the human haploid genome?

Answer 22

3.2 X 10 ^9 bp (3,200,000,000 )

Question 23

Has the human genome project allowed us to understand our evolutionary history?

Answer 23

Yes

Question 24

What’s one difference between the chromosomes of humans and chimpanzees?

Answer 24

At the 2nd point of chromosomes, there’s 2 chromosomes in chimps and one chromosome in humans. (fusion event/breakage event)

Question 25

2010 evolutionary history

Answer 25

research

Question 26

What are the benefits of the human genome project?

Answer 26

• Allows us to understand our evolutionary history.
• Allows us to make use of personalised medicine.
• Improved genetic screening i.e for breast cancer.

-

Question 27

What does a faulty version of the BRCA1 gene increase the chances of breast cancer in women by?

Answer 27

A faulty version of the BRCA1 gene increases the chances of breast cancer in women from 12.5% to 60-90%.

Question 28

What does a faulty version of the BRCA1 gene increase the chances of ovarian cancer in women by?

Answer 28

A faulty version of the BRCA1 gene increases the chances of ovarian cancer in women from 1.9% to 11-40%.

Question 29

What are the ethical/legal issues with the knowledge of people’s genomes?

Answer 29

• Will genetic information be used fairly?
• Could an employer refuse to hire someone because of a health concern indicated by that person’s genome?
• Could health insurance companies refuse to provide insurance to some people?
• Psychological impact: imagine you have a genotype associated with a short life – do you want to know?
• Stigmatisation: do you want your neighbour to know?

Question 30

Who came up with the Central Dogma of molecular biology? (‘Once information has got into a protein it can’t get out again’.)

Answer 30

Francis Crick in 1958

Question 31

DNA -> RNA -> Protein

Question 32

Describe the modern version of the central dogma

Answer 32

• DNA replication
• Transcription of DNA to RNA
• Information translated into a protein

Question 33

Who is known as the founder of genetics?

Answer 33

Gregor Mendel

Question 34

What is the scientific name for pea plants?

Answer 34

Pisum sativum

Question 35

Why did Mendel work with pea plants?

Answer 35

• They’re cheap
• They produce large numbers of offspring
• They have a relatively short generation time
• They can unergo both self-fertilisation and cross fertilisation.

Question 36

How do you cross-pollinate a pea plant?

Answer 36

• Transfer the pollen from one plant on a brush and rub it on the stigma of another plant.
• Remove the anthers from the target plant.
• Pure-breeding lines with contrasting features were available.
• Only simple tools are needed

Question 37

How do you self-pollinate a pea plant?

Answer 37

• Use a brush to transfer pollen from the anthers to the stigma of the same flower.

Question 38

What does a monohybrid cross mean?

Answer 38

a breeding experiment that involves two organisms with different variations of a single genetic trait

Question 39

Describe Mendel’s experiment

Answer 39

• He crossed a pure breeding green plant with a pure breeding yellow plant.
• In the next generation, all the peas were yellow. Mendel then called the yellow pea colour a dominant trait.
• Mendel then crossed the F1 yellow pea plant with a pure green plant, and the offspring was a mixture of green and yellow peas in a one to one ratio.
• Mendel called the green peas a recessive trait.
• Mendel then crossed an F1 yellow with and F1 yellow and got a 3:1 ratio of yellow to green.

Question 40

What was the first law of inheritance/ the law of segregation?

Answer 40

• Each individual has factors for each trait, one from each parent.
• If the factors are identical, the individual is homozygous for the trait.
• If the factors are different, the individual is heterozygous.

-

Question 41

Is Mendel’s law of independent assortment/law of inheritance true?

Answer 41

No, only in special circumstances

Question 42

What did Sutton conclude?

Answer 42

• That sex was determined via chromosome-based inheritance.
• That Mendel’s ‘factors’ were carried on chromosomes.

Question 43

How did T.H Morgan make his career?

Answer 43

By studying fruit flies

Question 44

What is the scientific name for fruit flies?

Answer 44

Drosophila melanogaster

Question 45

What’s the difference between male and female fruit flies?

Answer 45

Males have black bottoms, females are striped and slightly bigger.

Question 46

What did Morgan notice about fruit flies in 1910?

Answer 46

Wild-type fruit flies have red eyes but some of his mutant flies had white eyes. So he decided to find out why these white eyes are inherited.

Question 47

Describe Morgan’s crosses

Answer 47

• He took a female with red eyes and crossed it with a male with white eyes. This gave all red-eyed offspring.
• He then crossed a female with white eyes with a male with red eyes. The result was females with red eyes and males with white eyes. Very unexpected, non-reciprocal.
• Decided that sex and eye colour were inherited together, and that the gene for eye colour was on the X chromosome, but not the Y chromosome