Human genome

Question 1

Human Genome Project

Answer 1

Oct 1st 1990 - Apr 2003
15 years
3 billion dollars
Almost 3 billion base pairs (92%)
20-25K genes

Question 2

Whole-genome shotgun sequencing

Answer 2

1. Breaking down the genome into fragments
2. Amplify (clone) the DNA (recombinant DNA)
3. Read the DNA
4. Software reconstructs the sequence

Question 3

Telomere-to-Telomere consortium

Answer 3

2022
3.05 billion base pairs (remaining 8%)

Question 4

Open Reading Frame (ORF)

Answer 4

Stretch of nucleotides with no stop codon, if long probably is a gene

Question 5

Comparative genomics

Answer 5

Search for homolog genes and sequences to infer on evolution and gene conservation

Question 6

Human genome: conserved proportions

Answer 6

5% conserved across mammalians (so important):
- 1.2% coding DNA (20-25K genes)
- 3.5% regulation, condensarion, …

Question 7

ENCODE consortium

Answer 7

75% transcribed in at least one type of studied cells
45% derived from transposons, poorly conserved repeats
Ch1 has the most genes, ChY the least

Question 8

Individual variability

Answer 8

0.01%, due to SNPs and copy number variations (CNVs)

Question 9

Constitutive heterochromatin

Answer 9

6.7% made of highly repeated sequences (interspersed or tandem):
- Centromeric: satellite DNA
- Telomeric: minisatellite DNA (TTAGGG)
- Microsatellites (STRPs)