Human genome project Flashcards
What is the Human Genome Project (HGP)?
The Human Genome Project is an international research initiative aimed at mapping and sequencing the entire human genome.
When was the Human Genome Project initiated?
The HGP was initiated in 1990 as a joint effort of the U.S. Department of Energy and the National Institutes of Health (NIH).
What significant milestone occurred in June 2000?
A working draft of the entire human genome was completed in June 2000.
When were analyses of the working draft published?
Analyses of the working draft were published in February 2001.
When was the sequencing of the human genome completed?
The sequencing was completed in April 2003, two years ahead of schedule.
Who were the key leaders of the HGP?
Craig Venter, known for creating artificial chromosomes and co-founding Celera Genomics, and Francis Collins, head of NIH.
What were the main goals of the Human Genome Project?
To determine the sequences of approximately 3 billion base pairs in human DNA and to identify around 30,000 genes.
How does genome sequencing help in gene discovery?
It helps identify new genes, study chromosome organization, and find gene regulatory sequences.
What bioinformatics challenges did the HGP address?
The project produced a completed human genome draft, initial analyses, sequencing strategies, and insights into GC content variation.
What is genome assembly?
Genome assembly involves piecing together sequence fragments into chromosomes using overlapping fragments to create contigs.
What is GC content variation?
GC content variation refers to differences in GC-rich regions across the genome, which correlate with gene density and expression characteristics.
What are CpG islands?
CpG islands are GC-rich regions where CG dinucleotides exceed 70% and are at least 200 base pairs long; they are often found in promoter regions.
What is notable about human gene structure compared to other organisms?
Human exons are generally shorter than those in worms and flies, while introns are typically longer.
How many chromosomes are in the human genome?
The human genome consists of 23 pairs of chromosomes: 1-22 are autosomes, and X and Y are sex chromosomes.
What characteristics remain unknown after the HGP?
Many functional implications of identified genes, complex traits influenced by multiple genes, and roles of non-coding regions in gene regulation remain unclear.
