Lab: Human Genome Project

What is a genome?

A genome is the complete genetic material of an organism

What percentage of the human genome is identical across all humans?

~99.6% of the human genome is identical across all humans.

What was the goal of the Human Genome Project (HGP)?

To map the entire human genome

When was the Human Genome Project launched?

The HGP was launched in 1990.

Which organizations led the Human Genome Project?

The National Institutes of Health (NIH) and the U.S. Department of Energy led the HGP.

When was the first human genome draft sequence published?

The first human genome draft sequence was published in 2003.

What were some of the key organisms used as models in the HGP?

Haemophilus influenzae

What percentage of genes do humans share with Mus musculus (mouse)?

Humans share 92% of their genes with Mus musculus.

What is the 'shotgun' approach in DNA sequencing?

It involves randomly breaking up DNA sequences into small fragments and then assembling them to determine the sequence.

What were the two main phases of the HGP?

The Shotgun Phase and the Finishing Phase.

What was the predicted error rate in the final human genome sequence?

The predicted error rate was 1 event per 100

What technological advancements did the HGP lead to?

The HGP led to advancements like the Encyclopedia of DNA Elements (ENCODE) and improved genetic sequencing technology.

What is talazoparib and what does it treat?

Talazoparib is a cancer medicine that treats patients with mutated BRCA DNA repair genes by targeting and leading mutated cells to death.

What were the main challenges faced by the HGP?

Challenges included technological limitations

How many protein-encoding genes were estimated after the HGP?

Between 20

What are some future directions in genetics as proposed by the HGP?

Future directions include predicting protein structures

What was the budget of the HGP?

The HGP had a budget of three billion US dollars in the early 1990s.

What is ENCODE?

ENCODE (Encyclopedia of DNA Elements) is a project identifying functional elements in the human genome.

What economic impact did the HGP have?

The HGP boosted international biotechnology collaborations and spurred development of new genomic technologies.

How did the HGP impact cancer research?

The HGP provided a DNA blueprint

What is the hierarchical shotgun method?

It involves systematic mapping of overlapping clones to human chromosomes

What are sequence-tagged sites?

These are short DNA sequences used as landmarks in DNA mapping.

What is fluorescence in situ hybridization (FISH)?

FISH is a technique used to map DNA sequences to specific locations on chromosomes.

What is a DNA clone in the context of the HGP?

A DNA clone is a segment of DNA isolated and amplified for sequencing.

What are BACs in DNA sequencing?

BACs (Bacterial Artificial Chromosomes) are vectors used to propagate large DNA segments in bacteria for sequencing.

How were overlapping clones identified?

Overlapping clones were identified by comparing "fingerprints" and using techniques like FISH.

What are contigs in DNA sequencing?

Contigs are overlapping DNA fragments that represent a continuous DNA region.

What challenges did the HGP face with DNA gaps?

The finishing phase reduced DNA gaps

What ethical issues were considered by the HGP?

The HGP addressed the ethical

How has the HGP influenced biotechnology?

It paved the way for genome analysis technologies and increased understanding of human genetic diversity.

How many DNA base pairs does the human genome contain?

The human genome contains about 3 billion DNA base pairs.

What is the Human Genome Project?

An international research project launched in 1990 to map and sequence the complete human genome.

Who was the first director of the Human Genome Project?

James Watson.

What was the initial estimated number of genes in the human genome?

50

Which two organizations spearheaded the Human Genome Project?

The National Institutes of Health (NIH) and the U.S. Department of Energy.

In what year did human DNA sequencing officially begin?

1996.

What major discoveries were made in 1997 during the HGP?

Genes linked to breast cancer

What was the first animal to have its genome sequenced?

The roundworm

What significant genetic breakthrough occurred in 1999?

The sequencing of a complete human chromosome.

Which human chromosome's genetic code was unraveled in 2000?

Chromosome 21.

What significant genetic diseases are linked to chromosome 21?

Down syndrome

When was the first comprehensive human genome analysis published?

February 2001.

What unexpected finding was revealed about the number of human genes?

The estimate was revised down to 30

What is the Genetics and Rare Diseases Information Center?

A center launched in 2002 to provide free

When was the Human Genome Project completed?

2003.

What project began in 2008 to further study human genetic variation?

The 1000 Genomes Project.

What are the three main fields on which the HGP is based?

Classical genetics

What primary goal did the HGP aim to achieve?

To decode the entire human genome.

What are some secondary goals of the HGP?

Advancing DNA sequencing technology

What is the 'Shotgun Phase' in the HGP?

A phase that involved dividing human chromosomes into smaller DNA segments

What is a DNA clone?

A segment of DNA isolated and amplified for sequencing.

What method was used to map DNA fragments in the HGP?

Fluorescence in situ hybridization (FISH).

What are sequence-tagged sites (STSs)?

Known DNA fragment sequences used as markers on chromosomes.

What are contigs?

Contigs are multiple overlapping BAC library clones that form a continuous DNA sequence.

What is the purpose of the 'Finishing Phase'?

To resolve gaps and ambiguous areas in DNA sequences

How many nucleotide bases are there in the human genome?

2.85 billion nucleotide bases.

What was the predicted error rate in the final HGP sequence?

1 event per 100

What technological advances did the HGP inspire?

Faster

What is ENCODE?

The Encyclopedia of DNA Elements

How has cancer research benefited from the HGP?

It allows comparison of normal and cancerous DNA

What is talazoparib?

A cancer drug targeting BRCA mutation in DNA repair genes to treat cancer.

What was the HGP's budget in the early 1990s?

Three billion dollars.

Which model organisms were studied in the HGP?

Yeast

Why were model organisms significant in the HGP?

Their genomes helped develop technologies for sequencing the human genome.

What were some major challenges of the HGP?

Technological limitations

What are some limitations of interpreting the human genome?

Genomes don’t act as a master plan; cellular processes and environmental interactions influence gene expression.

What future questions are posed by the HGP?

Predicting protein structures

What are some ethical concerns related to the HGP?

Privacy of genetic information

What are the applications of the HGP in medical research?

Gene-based diagnosis

What impact did the HGP have on biotechnology?

It enhanced collaborations