Hoorcollege 1 - Overview and molecular biology recap 30-10
What is genomics?
- Study of entire genomes
- Many implications for life sciences and medicine
- Not limited to the human genome
What is medical genomics? → Aspects of genomics that have
powerful applications in medicine and health care
Human Genome Organization founded in 1988
A first complete draft of the human genome is published in 2001
SARS-CoV-2 → The first complete genome sequence of this
pathogen was published in January 2020
You have certain DNA sequences that are reserved between
species but also within species. There is also a large genetic
diversity within and between species.
Application of genomics in medicine
- Diagnostics of inherited diseases
- Genetic counselling
- Disease pathology research
- Disease treatment (pharmacology, gene therapy, stem cell therapy)
To find human disease genes you have specific
genetic markers and you have certain genes that
contribute to complex traits. Multiple genes may work
together to form complex traits.
What is a genome?
A genome contains all the biological information
needed to build and maintain a living example of that
organism
- We have approximately 20000 genes that
code for proteins that perform most life
functions
Human genome characteristics:
- 23 chromosome pairs: → 22 autosome pairs /
Two sex-linked chromosomes: X & Y
- 3.2 * 109 bp
- We have 4 bases in DNA the purines are A/G
and pyrimidines are C/T
,Nucleotide structure:
Nucleoside: Base and sugar
Nucleotide: Base, sugar and phosphate
group
The O-P-O is a phosphodiester bond (OH-P-OH)
The sugar and phosphate groups form the backbone of
DNA
T plakt aan A met 2 Hbruggen
C plakt aan G met 3 Hbruggen
Central dogma: DNA → transcriptie → RNA →
translatie → eiwit
Transcriptie gebeurt in de celkern daar maak je
mRNA dat wordt getransporteerd naar celplasma
voor translatie
,Gene organization:
Prokaryotes → bacteriën
Operons
Polycistronic mRNAs → encodes 2 or more proteins
Little RNA processing
DNA in cytoplasm → ze hebben geen celkern
No transcriptionfactors needed
One kind of RNA polymerase
Eukaryotes→ schimmels,planten, dieren,algen
Single genes
Monocistronic mRNAs
Heavy RNA processing
DNA in Nucleus
Need of multiple RNA polymerases 1/2/3
One gene can have many proteins and In
eukaryotes, alternative RNA splicing increases
protein complexity
Difference between DNA and RNA:
DNA = T // RNA = U
DNA is di // RNA is mono
We have 20 essential amino acids → they are used
for proteins
, Amino acid structure →
Amino acid polymerization
Bij polymerization komt er H2O vrij want de C van de carboxyl groep gaat plakken met de N
van de amino groep.
Translation is a two step decoding
process:
DNA makes RNA, RNA makes protein,
and proteins make us." - Francis Crick
Protein structure classes:
- Primary → chain of AA
- Secondary →chain changes shape due
to the formation of hydrogen bonds.
This can generate common structures
such as alpha-helices, beta sheets or
random coils
- Tertiary → chemical interactions
between amino acids stabilize the formation of a unique three-dimensional shape
- Quaternary→ of more than one amino acid chain, which are then called subunits.
Proteins are used for:
- Enzymes
- Structural components
- Transport molecules
- Signal transduction proteins
- Regulatory proteins
- Membrane transporters
- Hormones
- Antibodies
What is genomics?
- Study of entire genomes
- Many implications for life sciences and medicine
- Not limited to the human genome
What is medical genomics? → Aspects of genomics that have
powerful applications in medicine and health care
Human Genome Organization founded in 1988
A first complete draft of the human genome is published in 2001
SARS-CoV-2 → The first complete genome sequence of this
pathogen was published in January 2020
You have certain DNA sequences that are reserved between
species but also within species. There is also a large genetic
diversity within and between species.
Application of genomics in medicine
- Diagnostics of inherited diseases
- Genetic counselling
- Disease pathology research
- Disease treatment (pharmacology, gene therapy, stem cell therapy)
To find human disease genes you have specific
genetic markers and you have certain genes that
contribute to complex traits. Multiple genes may work
together to form complex traits.
What is a genome?
A genome contains all the biological information
needed to build and maintain a living example of that
organism
- We have approximately 20000 genes that
code for proteins that perform most life
functions
Human genome characteristics:
- 23 chromosome pairs: → 22 autosome pairs /
Two sex-linked chromosomes: X & Y
- 3.2 * 109 bp
- We have 4 bases in DNA the purines are A/G
and pyrimidines are C/T
,Nucleotide structure:
Nucleoside: Base and sugar
Nucleotide: Base, sugar and phosphate
group
The O-P-O is a phosphodiester bond (OH-P-OH)
The sugar and phosphate groups form the backbone of
DNA
T plakt aan A met 2 Hbruggen
C plakt aan G met 3 Hbruggen
Central dogma: DNA → transcriptie → RNA →
translatie → eiwit
Transcriptie gebeurt in de celkern daar maak je
mRNA dat wordt getransporteerd naar celplasma
voor translatie
,Gene organization:
Prokaryotes → bacteriën
Operons
Polycistronic mRNAs → encodes 2 or more proteins
Little RNA processing
DNA in cytoplasm → ze hebben geen celkern
No transcriptionfactors needed
One kind of RNA polymerase
Eukaryotes→ schimmels,planten, dieren,algen
Single genes
Monocistronic mRNAs
Heavy RNA processing
DNA in Nucleus
Need of multiple RNA polymerases 1/2/3
One gene can have many proteins and In
eukaryotes, alternative RNA splicing increases
protein complexity
Difference between DNA and RNA:
DNA = T // RNA = U
DNA is di // RNA is mono
We have 20 essential amino acids → they are used
for proteins
, Amino acid structure →
Amino acid polymerization
Bij polymerization komt er H2O vrij want de C van de carboxyl groep gaat plakken met de N
van de amino groep.
Translation is a two step decoding
process:
DNA makes RNA, RNA makes protein,
and proteins make us." - Francis Crick
Protein structure classes:
- Primary → chain of AA
- Secondary →chain changes shape due
to the formation of hydrogen bonds.
This can generate common structures
such as alpha-helices, beta sheets or
random coils
- Tertiary → chemical interactions
between amino acids stabilize the formation of a unique three-dimensional shape
- Quaternary→ of more than one amino acid chain, which are then called subunits.
Proteins are used for:
- Enzymes
- Structural components
- Transport molecules
- Signal transduction proteins
- Regulatory proteins
- Membrane transporters
- Hormones
- Antibodies
