The Genome & Epigenome

Question 1

When was the sequencing of the human genome first published? Draft form

Answer 1

2001

Question 2

When was the detailed version of the human genome sequencing published?

Answer 2

2003

Question 3

How many DNA base pairs does the human genome contain?

Answer 3

3.2 billion

Question 4

How many genes within the genome encode proteins?

Answer 4

20 000 (1.5%)

Question 5

What are the functions of proteins within the body?

Answer 5

Enzymes, structural components, signaling molecules

Question 6

What do the non-coding regions of the genome provide?

Answer 6

“Architectural planning” ie gene expression

Question 7

What are the major classes of functional non-protein-coding sequences found in the human genome?

Answer 7

1. Promoter and enhancer regions (provide binding sites for transcription factors)
2. Binding sites for factors that organise and maintain higher order chromatin structures
3. Noncoding regulatory RNAs (regulate gene expression)
4. Mobile genetic elements
5. Structural regions of DNA (telomeres/centromeres)

Question 8

True or false - many of the polymorphisms associated with diseases are located in non-protein-coding regions of the genome?

Answer 8

True

Question 9

What is an SNP?

Answer 9

Single-nucleotide Polymorphism - variants at single nucleotide positions - almost always biallelic