Tom Strachan bull Andrew Read

Human Molecular GeneticsFourth Edition

Genetics for Dummies 2018

Molecular Genetics I

Robert Kraaij PhDrkraaijerasmusmcnl

6th (2014)1st (1983) 3rd (1994) 4th (2002) 5th (2007)2nd (1989)

Molecular Biology of the Cell (MBoC)

To get you on the same pagehellip

Molecular Genetics I amp II

overview

bull The central dogma

ndash DNA - RNA - protein

bull Organization of the human genome

bull Genetic variation

bull Gene expression

Human Molecular GeneticsFourth Edition

The central dogma

DNA - RNA - protein

DNA and RNA structure

DNA and RNA structure

RNA

DNA

tri-phosphate

ribosemono-phosphate

base

deoxyribose

5rsquo3rsquo

DNA and RNA structure

5 different bases

purine pyrimidine purine

pyrimidine pyrimidine

DNA and RNA structure

rarr GC content is an important feature of DNA

DNA and RNA structure

DNA and RNA structure

5rsquo 3rsquo

1953 Double-Helix Model of DNA

James D Watson and Francis Crick

from wikipediaorg

6th (2014)1st (1983) 3rd (1994) 4th (2002) 5th (2007)2nd (1989)

Molecular Biology of the Cell (MBoC)

To get you on the same pagehellip

Molecular Genetics I amp II

overview

bull The central dogma

ndash DNA - RNA - protein

bull Organization of the human genome

bull Genetic variation

bull Gene expression

Human Molecular GeneticsFourth Edition

The central dogma

DNA - RNA - protein

DNA and RNA structure

DNA and RNA structure

RNA

DNA

tri-phosphate

ribosemono-phosphate

base

deoxyribose

5rsquo3rsquo

DNA and RNA structure

5 different bases

purine pyrimidine purine

pyrimidine pyrimidine

DNA and RNA structure

rarr GC content is an important feature of DNA

DNA and RNA structure

DNA and RNA structure

5rsquo 3rsquo

1953 Double-Helix Model of DNA

James D Watson and Francis Crick

from wikipediaorg

To get you on the same pagehellip

Molecular Genetics I amp II

overview

bull The central dogma

ndash DNA - RNA - protein

bull Organization of the human genome

bull Genetic variation

bull Gene expression

Human Molecular GeneticsFourth Edition

The central dogma

DNA - RNA - protein

DNA and RNA structure

DNA and RNA structure

RNA

DNA

tri-phosphate

ribosemono-phosphate

base

deoxyribose

5rsquo3rsquo

DNA and RNA structure

5 different bases

purine pyrimidine purine

pyrimidine pyrimidine

DNA and RNA structure

rarr GC content is an important feature of DNA

DNA and RNA structure

DNA and RNA structure

5rsquo 3rsquo

1953 Double-Helix Model of DNA

James D Watson and Francis Crick

from wikipediaorg

Molecular Genetics I amp II

overview

bull The central dogma

ndash DNA - RNA - protein

bull Organization of the human genome

bull Genetic variation

bull Gene expression

Human Molecular GeneticsFourth Edition

The central dogma

DNA - RNA - protein

DNA and RNA structure

DNA and RNA structure

RNA

DNA

tri-phosphate

ribosemono-phosphate

base

deoxyribose

5rsquo3rsquo

DNA and RNA structure

5 different bases

purine pyrimidine purine

pyrimidine pyrimidine

DNA and RNA structure

rarr GC content is an important feature of DNA

DNA and RNA structure

DNA and RNA structure

5rsquo 3rsquo

1953 Double-Helix Model of DNA

James D Watson and Francis Crick

from wikipediaorg

Human Molecular GeneticsFourth Edition

The central dogma

DNA - RNA - protein

DNA and RNA structure

DNA and RNA structure

RNA

DNA

tri-phosphate

ribosemono-phosphate

base

deoxyribose

5rsquo3rsquo

DNA and RNA structure

5 different bases

purine pyrimidine purine

pyrimidine pyrimidine

DNA and RNA structure

rarr GC content is an important feature of DNA

DNA and RNA structure

DNA and RNA structure

5rsquo 3rsquo

1953 Double-Helix Model of DNA

James D Watson and Francis Crick

from wikipediaorg

DNA and RNA structure

DNA and RNA structure

RNA

DNA

tri-phosphate

ribosemono-phosphate

base

deoxyribose

5rsquo3rsquo

DNA and RNA structure

5 different bases

purine pyrimidine purine

pyrimidine pyrimidine

DNA and RNA structure

rarr GC content is an important feature of DNA

DNA and RNA structure

DNA and RNA structure

5rsquo 3rsquo

1953 Double-Helix Model of DNA

James D Watson and Francis Crick

from wikipediaorg

DNA and RNA structure

RNA

DNA

tri-phosphate

ribosemono-phosphate

base

deoxyribose

5rsquo3rsquo

DNA and RNA structure

5 different bases

purine pyrimidine purine

pyrimidine pyrimidine

DNA and RNA structure

rarr GC content is an important feature of DNA

DNA and RNA structure

DNA and RNA structure

5rsquo 3rsquo

1953 Double-Helix Model of DNA

James D Watson and Francis Crick

from wikipediaorg

DNA and RNA structure

5 different bases

purine pyrimidine purine

pyrimidine pyrimidine

DNA and RNA structure

rarr GC content is an important feature of DNA

DNA and RNA structure

DNA and RNA structure

5rsquo 3rsquo

1953 Double-Helix Model of DNA

James D Watson and Francis Crick

from wikipediaorg

DNA and RNA structure

rarr GC content is an important feature of DNA

DNA and RNA structure

DNA and RNA structure

5rsquo 3rsquo

1953 Double-Helix Model of DNA

James D Watson and Francis Crick

from wikipediaorg

rarr GC content is an important feature of DNA

DNA and RNA structure

DNA and RNA structure

5rsquo 3rsquo

1953 Double-Helix Model of DNA

James D Watson and Francis Crick

from wikipediaorg

DNA and RNA structure

5rsquo 3rsquo

1953 Double-Helix Model of DNA

James D Watson and Francis Crick

from wikipediaorg

1953 Double-Helix Model of DNA

James D Watson and Francis Crick

from wikipediaorg

DNA and RNA structure

secondary structure of RNA

Replication

DNA-dependent DNA polymerase

5rsquo 3rsquo

3rsquo 5rsquo

3rsquo 5rsquo

5rsquo 3rsquo

5rsquo 3rsquo

Transcription

DNA-dependent RNA polymerase

5rsquo 3rsquo

3rsquo 5rsquo

Translation

tRNA

ribosome

Translation

Translation

Translation

codon usage bacteria and phages

codon optimization

expression of human

gene in bacteria

phage sequence is

optimized for host

bacterium

Protein structure

Protein structure

Protein structure

Protein structure

Protein structure

Protein structure

Protein structure

Protein structure

secondary

structures

Protein structure

secondary

structures

Protein structure

tertiary

structures

Protein structure

non-permanent bonds

Protein structure

disulfide bond

Protein structure

Example hemoglobin and carbon monoxide

Questions

bull DNA RNA and protein structure

bull Replication

bull Transcription

bull Translation

Human Molecular GeneticsFourth Edition

Organization of the Human Genome

Nuclear and mitochondrial genomes

Mitochondrial genome

Mitochondrial inheritance

bull inherited from the motherrsquos egg

bull thousands per cell (vary with energy need)

bull all identical (homoplasmy)

bull levels of mutant mtDNA (heteroplasmy)

Mitochondrial inheritance

Male counter part Y chromosomal inheritance

bull Father to son

bull SRY gene

ndash sex determining region

bull no recombination

bull haplogroups

Nuclear and mitochondrial genomes

Nuclear Genome

Organization of the genome

Pseudogenes

Oct-6 gt functional single exon gene

Adv Exp Med Biol 199946813-22

Transcriptional regulation of the POU gene Oct-6 in Schwann cells

Mandemakers W Zwart R Kraay R Grosveld G Jaegle AG Broos L Meijer D

Replication

DNA-dependent DNA polymerase

5rsquo 3rsquo

3rsquo 5rsquo

3rsquo 5rsquo

5rsquo 3rsquo

5rsquo 3rsquo

Transcription

DNA-dependent RNA polymerase

5rsquo 3rsquo

3rsquo 5rsquo

Translation

tRNA

ribosome

Translation

Translation

Translation

codon usage bacteria and phages

codon optimization

expression of human

gene in bacteria

phage sequence is

optimized for host

bacterium

Protein structure

Protein structure

Protein structure

Protein structure

Protein structure

Protein structure

Protein structure

Protein structure

secondary

structures

Protein structure

secondary

structures

Protein structure

tertiary

structures

Protein structure

non-permanent bonds

Protein structure

disulfide bond

Protein structure

Example hemoglobin and carbon monoxide

Questions

bull DNA RNA and protein structure

bull Replication

bull Transcription

bull Translation

Human Molecular GeneticsFourth Edition

Organization of the Human Genome

Nuclear and mitochondrial genomes

Mitochondrial genome

Mitochondrial inheritance

bull inherited from the motherrsquos egg

bull thousands per cell (vary with energy need)

bull all identical (homoplasmy)

bull levels of mutant mtDNA (heteroplasmy)

Mitochondrial inheritance

Male counter part Y chromosomal inheritance

bull Father to son

bull SRY gene

ndash sex determining region

bull no recombination

bull haplogroups

Nuclear and mitochondrial genomes

Nuclear Genome

Organization of the genome

Pseudogenes

Oct-6 gt functional single exon gene

Adv Exp Med Biol 199946813-22

Transcriptional regulation of the POU gene Oct-6 in Schwann cells

Mandemakers W Zwart R Kraay R Grosveld G Jaegle AG Broos L Meijer D

Transcription

DNA-dependent RNA polymerase

5rsquo 3rsquo

3rsquo 5rsquo

Translation

tRNA

ribosome

Translation

Translation

Translation

codon usage bacteria and phages

codon optimization

expression of human

gene in bacteria

phage sequence is

optimized for host

bacterium

Protein structure

Protein structure

Protein structure

Protein structure

Protein structure

Protein structure

Protein structure

Protein structure

secondary

structures

Protein structure

secondary

structures

Protein structure

tertiary

structures

Protein structure

non-permanent bonds

Protein structure

disulfide bond

Protein structure

Example hemoglobin and carbon monoxide

Questions

bull DNA RNA and protein structure

bull Replication

bull Transcription

bull Translation

Human Molecular GeneticsFourth Edition

Organization of the Human Genome

Nuclear and mitochondrial genomes

Mitochondrial genome

Mitochondrial inheritance

bull inherited from the motherrsquos egg

bull thousands per cell (vary with energy need)

bull all identical (homoplasmy)

bull levels of mutant mtDNA (heteroplasmy)

Mitochondrial inheritance

Male counter part Y chromosomal inheritance

bull Father to son

bull SRY gene

ndash sex determining region

bull no recombination

bull haplogroups

Nuclear and mitochondrial genomes

Nuclear Genome

Organization of the genome

Pseudogenes

Oct-6 gt functional single exon gene

Adv Exp Med Biol 199946813-22

Transcriptional regulation of the POU gene Oct-6 in Schwann cells

Mandemakers W Zwart R Kraay R Grosveld G Jaegle AG Broos L Meijer D

Translation

tRNA

ribosome

Translation

Translation

Translation

codon usage bacteria and phages

codon optimization

expression of human

gene in bacteria

phage sequence is

optimized for host

bacterium

Protein structure

Protein structure

Protein structure

Protein structure

Protein structure

Protein structure

Protein structure

Protein structure

secondary

structures

Protein structure

secondary

structures

Protein structure

tertiary

structures

Protein structure

non-permanent bonds

Protein structure

disulfide bond

Protein structure

Example hemoglobin and carbon monoxide

Questions

bull DNA RNA and protein structure

bull Replication

bull Transcription

bull Translation

Human Molecular GeneticsFourth Edition

Organization of the Human Genome

Nuclear and mitochondrial genomes

Mitochondrial genome

Mitochondrial inheritance

bull inherited from the motherrsquos egg

bull thousands per cell (vary with energy need)

bull all identical (homoplasmy)

bull levels of mutant mtDNA (heteroplasmy)

Mitochondrial inheritance

Male counter part Y chromosomal inheritance

bull Father to son

bull SRY gene

ndash sex determining region

bull no recombination

bull haplogroups

Nuclear and mitochondrial genomes

Nuclear Genome

Organization of the genome

Pseudogenes

Oct-6 gt functional single exon gene

Adv Exp Med Biol 199946813-22

Transcriptional regulation of the POU gene Oct-6 in Schwann cells

Mandemakers W Zwart R Kraay R Grosveld G Jaegle AG Broos L Meijer D

Translation

Translation

Translation

codon usage bacteria and phages

codon optimization

expression of human

gene in bacteria

phage sequence is

optimized for host

bacterium

Protein structure

Protein structure

Protein structure

Protein structure

Protein structure

Protein structure

Protein structure

Protein structure

secondary

structures

Protein structure

secondary

structures

Protein structure

tertiary

structures

Protein structure

non-permanent bonds

Protein structure

disulfide bond

Protein structure

Example hemoglobin and carbon monoxide

Questions

bull DNA RNA and protein structure

bull Replication

bull Transcription

bull Translation

Human Molecular GeneticsFourth Edition

Organization of the Human Genome

Nuclear and mitochondrial genomes

Mitochondrial genome

Mitochondrial inheritance

bull inherited from the motherrsquos egg

bull thousands per cell (vary with energy need)

bull all identical (homoplasmy)

bull levels of mutant mtDNA (heteroplasmy)

Mitochondrial inheritance

Male counter part Y chromosomal inheritance

bull Father to son

bull SRY gene

ndash sex determining region

bull no recombination

bull haplogroups

Nuclear and mitochondrial genomes

Nuclear Genome

Organization of the genome

Pseudogenes

Oct-6 gt functional single exon gene

Adv Exp Med Biol 199946813-22

Transcriptional regulation of the POU gene Oct-6 in Schwann cells

Mandemakers W Zwart R Kraay R Grosveld G Jaegle AG Broos L Meijer D

Translation

Translation

codon usage bacteria and phages

codon optimization

expression of human

gene in bacteria

phage sequence is

optimized for host

bacterium

Protein structure

Protein structure

Protein structure

Protein structure

Protein structure

Protein structure

Protein structure

Protein structure

secondary

structures

Protein structure

secondary

structures

Protein structure

tertiary

structures

Protein structure

non-permanent bonds

Protein structure

disulfide bond

Protein structure

Example hemoglobin and carbon monoxide

Questions

bull DNA RNA and protein structure

bull Replication

bull Transcription

bull Translation

Human Molecular GeneticsFourth Edition

Organization of the Human Genome

Nuclear and mitochondrial genomes

Mitochondrial genome

Mitochondrial inheritance

bull inherited from the motherrsquos egg

bull thousands per cell (vary with energy need)

bull all identical (homoplasmy)

bull levels of mutant mtDNA (heteroplasmy)

Mitochondrial inheritance

Male counter part Y chromosomal inheritance

bull Father to son

bull SRY gene

ndash sex determining region

bull no recombination

bull haplogroups

Nuclear and mitochondrial genomes

Nuclear Genome

Organization of the genome

Pseudogenes

Oct-6 gt functional single exon gene

Adv Exp Med Biol 199946813-22

Transcriptional regulation of the POU gene Oct-6 in Schwann cells

Mandemakers W Zwart R Kraay R Grosveld G Jaegle AG Broos L Meijer D

Translation

codon usage bacteria and phages

codon optimization

expression of human

gene in bacteria

phage sequence is

optimized for host

bacterium

Protein structure

Protein structure

Protein structure

Protein structure

Protein structure

Protein structure

Protein structure

Protein structure

secondary

structures

Protein structure

secondary

structures

Protein structure

tertiary

structures

Protein structure

non-permanent bonds

Protein structure

disulfide bond

Protein structure

Example hemoglobin and carbon monoxide

Questions

bull DNA RNA and protein structure

bull Replication

bull Transcription

bull Translation

Human Molecular GeneticsFourth Edition

Organization of the Human Genome

Nuclear and mitochondrial genomes

Mitochondrial genome

Mitochondrial inheritance

bull inherited from the motherrsquos egg

bull thousands per cell (vary with energy need)

bull all identical (homoplasmy)

bull levels of mutant mtDNA (heteroplasmy)

Mitochondrial inheritance

Male counter part Y chromosomal inheritance

bull Father to son

bull SRY gene

ndash sex determining region

bull no recombination

bull haplogroups

Nuclear and mitochondrial genomes

Nuclear Genome

Organization of the genome

Pseudogenes

Oct-6 gt functional single exon gene

Adv Exp Med Biol 199946813-22

Transcriptional regulation of the POU gene Oct-6 in Schwann cells

Mandemakers W Zwart R Kraay R Grosveld G Jaegle AG Broos L Meijer D

Protein structure

Protein structure

Protein structure

Protein structure

Protein structure

Protein structure

Protein structure

Protein structure

secondary

structures

Protein structure

secondary

structures

Protein structure

tertiary

structures

Protein structure

non-permanent bonds

Protein structure

disulfide bond

Protein structure

Example hemoglobin and carbon monoxide

Questions

bull DNA RNA and protein structure

bull Replication

bull Transcription

bull Translation

Human Molecular GeneticsFourth Edition

Organization of the Human Genome

Nuclear and mitochondrial genomes

Mitochondrial genome

Mitochondrial inheritance

bull inherited from the motherrsquos egg

bull thousands per cell (vary with energy need)

bull all identical (homoplasmy)

bull levels of mutant mtDNA (heteroplasmy)

Mitochondrial inheritance

Male counter part Y chromosomal inheritance

bull Father to son

bull SRY gene

ndash sex determining region

bull no recombination

bull haplogroups

Nuclear and mitochondrial genomes

Nuclear Genome

Organization of the genome

Pseudogenes

Oct-6 gt functional single exon gene

Adv Exp Med Biol 199946813-22

Transcriptional regulation of the POU gene Oct-6 in Schwann cells

Mandemakers W Zwart R Kraay R Grosveld G Jaegle AG Broos L Meijer D

Protein structure

Protein structure

Protein structure

Protein structure

Protein structure

Protein structure

Protein structure

secondary

structures

Protein structure

secondary

structures

Protein structure

tertiary

structures

Protein structure

non-permanent bonds

Protein structure

disulfide bond

Protein structure

Example hemoglobin and carbon monoxide

Questions

bull DNA RNA and protein structure

bull Replication

bull Transcription

bull Translation

Human Molecular GeneticsFourth Edition

Organization of the Human Genome

Nuclear and mitochondrial genomes

Mitochondrial genome

Mitochondrial inheritance

bull inherited from the motherrsquos egg

bull thousands per cell (vary with energy need)

bull all identical (homoplasmy)

bull levels of mutant mtDNA (heteroplasmy)

Mitochondrial inheritance

Male counter part Y chromosomal inheritance

bull Father to son

bull SRY gene

ndash sex determining region

bull no recombination

bull haplogroups

Nuclear and mitochondrial genomes

Nuclear Genome

Organization of the genome

Pseudogenes

Oct-6 gt functional single exon gene

Adv Exp Med Biol 199946813-22

Transcriptional regulation of the POU gene Oct-6 in Schwann cells

Mandemakers W Zwart R Kraay R Grosveld G Jaegle AG Broos L Meijer D

Protein structure

Protein structure

Protein structure

Protein structure

Protein structure

Protein structure

secondary

structures

Protein structure

secondary

structures

Protein structure

tertiary

structures

Protein structure

non-permanent bonds

Protein structure

disulfide bond

Protein structure

Example hemoglobin and carbon monoxide

Questions

bull DNA RNA and protein structure

bull Replication

bull Transcription

bull Translation

Human Molecular GeneticsFourth Edition

Organization of the Human Genome

Nuclear and mitochondrial genomes

Mitochondrial genome

Mitochondrial inheritance

bull inherited from the motherrsquos egg

bull thousands per cell (vary with energy need)

bull all identical (homoplasmy)

bull levels of mutant mtDNA (heteroplasmy)

Mitochondrial inheritance

Male counter part Y chromosomal inheritance

bull Father to son

bull SRY gene

ndash sex determining region

bull no recombination

bull haplogroups

Nuclear and mitochondrial genomes

Nuclear Genome

Organization of the genome

Pseudogenes

Oct-6 gt functional single exon gene

Adv Exp Med Biol 199946813-22

Transcriptional regulation of the POU gene Oct-6 in Schwann cells

Mandemakers W Zwart R Kraay R Grosveld G Jaegle AG Broos L Meijer D

Protein structure

Protein structure

Protein structure

Protein structure

Protein structure

secondary

structures

Protein structure

secondary

structures

Protein structure

tertiary

structures

Protein structure

non-permanent bonds

Protein structure

disulfide bond

Protein structure

Example hemoglobin and carbon monoxide

Questions

bull DNA RNA and protein structure

bull Replication

bull Transcription

bull Translation

Human Molecular GeneticsFourth Edition

Organization of the Human Genome

Nuclear and mitochondrial genomes

Mitochondrial genome

Mitochondrial inheritance

bull inherited from the motherrsquos egg

bull thousands per cell (vary with energy need)

bull all identical (homoplasmy)

bull levels of mutant mtDNA (heteroplasmy)

Mitochondrial inheritance

Male counter part Y chromosomal inheritance

bull Father to son

bull SRY gene

ndash sex determining region

bull no recombination

bull haplogroups

Nuclear and mitochondrial genomes

Nuclear Genome

Organization of the genome

Pseudogenes

Oct-6 gt functional single exon gene

Adv Exp Med Biol 199946813-22

Transcriptional regulation of the POU gene Oct-6 in Schwann cells

Mandemakers W Zwart R Kraay R Grosveld G Jaegle AG Broos L Meijer D

Protein structure

Protein structure

Protein structure

Protein structure

secondary

structures

Protein structure

secondary

structures

Protein structure

tertiary

structures

Protein structure

non-permanent bonds

Protein structure

disulfide bond

Protein structure

Example hemoglobin and carbon monoxide

Questions

bull DNA RNA and protein structure

bull Replication

bull Transcription

bull Translation

Human Molecular GeneticsFourth Edition

Organization of the Human Genome

Nuclear and mitochondrial genomes

Mitochondrial genome

Mitochondrial inheritance

bull inherited from the motherrsquos egg

bull thousands per cell (vary with energy need)

bull all identical (homoplasmy)

bull levels of mutant mtDNA (heteroplasmy)

Mitochondrial inheritance

Male counter part Y chromosomal inheritance

bull Father to son

bull SRY gene

ndash sex determining region

bull no recombination

bull haplogroups

Nuclear and mitochondrial genomes

Nuclear Genome

Organization of the genome

Pseudogenes

Oct-6 gt functional single exon gene

Adv Exp Med Biol 199946813-22

Transcriptional regulation of the POU gene Oct-6 in Schwann cells

Mandemakers W Zwart R Kraay R Grosveld G Jaegle AG Broos L Meijer D

Protein structure

Protein structure

Protein structure

secondary

structures

Protein structure

secondary

structures

Protein structure

tertiary

structures

Protein structure

non-permanent bonds

Protein structure

disulfide bond

Protein structure

Example hemoglobin and carbon monoxide

Questions

bull DNA RNA and protein structure

bull Replication

bull Transcription

bull Translation

Human Molecular GeneticsFourth Edition

Organization of the Human Genome

Nuclear and mitochondrial genomes

Mitochondrial genome

Mitochondrial inheritance

bull inherited from the motherrsquos egg

bull thousands per cell (vary with energy need)

bull all identical (homoplasmy)

bull levels of mutant mtDNA (heteroplasmy)

Mitochondrial inheritance

Male counter part Y chromosomal inheritance

bull Father to son

bull SRY gene

ndash sex determining region

bull no recombination

bull haplogroups

Nuclear and mitochondrial genomes

Nuclear Genome

Organization of the genome

Pseudogenes

Oct-6 gt functional single exon gene

Adv Exp Med Biol 199946813-22

Transcriptional regulation of the POU gene Oct-6 in Schwann cells

Mandemakers W Zwart R Kraay R Grosveld G Jaegle AG Broos L Meijer D

Protein structure

Protein structure

secondary

structures

Protein structure

secondary

structures

Protein structure

tertiary

structures

Protein structure

non-permanent bonds

Protein structure

disulfide bond

Protein structure

Example hemoglobin and carbon monoxide

Questions

bull DNA RNA and protein structure

bull Replication

bull Transcription

bull Translation

Human Molecular GeneticsFourth Edition

Organization of the Human Genome

Nuclear and mitochondrial genomes

Mitochondrial genome

Mitochondrial inheritance

bull inherited from the motherrsquos egg

bull thousands per cell (vary with energy need)

bull all identical (homoplasmy)

bull levels of mutant mtDNA (heteroplasmy)

Mitochondrial inheritance

Male counter part Y chromosomal inheritance

bull Father to son

bull SRY gene

ndash sex determining region

bull no recombination

bull haplogroups

Nuclear and mitochondrial genomes

Nuclear Genome

Organization of the genome

Pseudogenes

Oct-6 gt functional single exon gene

Adv Exp Med Biol 199946813-22

Transcriptional regulation of the POU gene Oct-6 in Schwann cells

Mandemakers W Zwart R Kraay R Grosveld G Jaegle AG Broos L Meijer D

Protein structure

secondary

structures

Protein structure

secondary

structures

Protein structure

tertiary

structures

Protein structure

non-permanent bonds

Protein structure

disulfide bond

Protein structure

Example hemoglobin and carbon monoxide

Questions

bull DNA RNA and protein structure

bull Replication

bull Transcription

bull Translation

Human Molecular GeneticsFourth Edition

Organization of the Human Genome

Nuclear and mitochondrial genomes

Mitochondrial genome

Mitochondrial inheritance

bull inherited from the motherrsquos egg

bull thousands per cell (vary with energy need)

bull all identical (homoplasmy)

bull levels of mutant mtDNA (heteroplasmy)

Mitochondrial inheritance

Male counter part Y chromosomal inheritance

bull Father to son

bull SRY gene

ndash sex determining region

bull no recombination

bull haplogroups

Nuclear and mitochondrial genomes

Nuclear Genome

Organization of the genome

Pseudogenes

Oct-6 gt functional single exon gene

Adv Exp Med Biol 199946813-22

Transcriptional regulation of the POU gene Oct-6 in Schwann cells

Mandemakers W Zwart R Kraay R Grosveld G Jaegle AG Broos L Meijer D

Protein structure

secondary

structures

Protein structure

tertiary

structures

Protein structure

non-permanent bonds

Protein structure

disulfide bond

Protein structure

Example hemoglobin and carbon monoxide

Questions

bull DNA RNA and protein structure

bull Replication

bull Transcription

bull Translation

Human Molecular GeneticsFourth Edition

Organization of the Human Genome

Nuclear and mitochondrial genomes

Mitochondrial genome

Mitochondrial inheritance

bull inherited from the motherrsquos egg

bull thousands per cell (vary with energy need)

bull all identical (homoplasmy)

bull levels of mutant mtDNA (heteroplasmy)

Mitochondrial inheritance

Male counter part Y chromosomal inheritance

bull Father to son

bull SRY gene

ndash sex determining region

bull no recombination

bull haplogroups

Nuclear and mitochondrial genomes

Nuclear Genome

Organization of the genome

Pseudogenes

Oct-6 gt functional single exon gene

Adv Exp Med Biol 199946813-22

Transcriptional regulation of the POU gene Oct-6 in Schwann cells

Mandemakers W Zwart R Kraay R Grosveld G Jaegle AG Broos L Meijer D

Protein structure

tertiary

structures

Protein structure

non-permanent bonds

Protein structure

disulfide bond

Protein structure

Example hemoglobin and carbon monoxide

Questions

bull DNA RNA and protein structure

bull Replication

bull Transcription

bull Translation

Human Molecular GeneticsFourth Edition

Organization of the Human Genome

Nuclear and mitochondrial genomes

Mitochondrial genome

Mitochondrial inheritance

bull inherited from the motherrsquos egg

bull thousands per cell (vary with energy need)

bull all identical (homoplasmy)

bull levels of mutant mtDNA (heteroplasmy)

Mitochondrial inheritance

Male counter part Y chromosomal inheritance

bull Father to son

bull SRY gene

ndash sex determining region

bull no recombination

bull haplogroups

Nuclear and mitochondrial genomes

Nuclear Genome

Organization of the genome

Pseudogenes

Oct-6 gt functional single exon gene

Adv Exp Med Biol 199946813-22

Transcriptional regulation of the POU gene Oct-6 in Schwann cells

Mandemakers W Zwart R Kraay R Grosveld G Jaegle AG Broos L Meijer D

Protein structure

non-permanent bonds

Protein structure

disulfide bond

Protein structure

Example hemoglobin and carbon monoxide

Questions

bull DNA RNA and protein structure

bull Replication

bull Transcription

bull Translation

Human Molecular GeneticsFourth Edition

Organization of the Human Genome

Nuclear and mitochondrial genomes

Mitochondrial genome

Mitochondrial inheritance

bull inherited from the motherrsquos egg

bull thousands per cell (vary with energy need)

bull all identical (homoplasmy)

bull levels of mutant mtDNA (heteroplasmy)

Mitochondrial inheritance

Male counter part Y chromosomal inheritance

bull Father to son

bull SRY gene

ndash sex determining region

bull no recombination

bull haplogroups

Nuclear and mitochondrial genomes

Nuclear Genome

Organization of the genome

Pseudogenes

Oct-6 gt functional single exon gene

Adv Exp Med Biol 199946813-22

Transcriptional regulation of the POU gene Oct-6 in Schwann cells

Mandemakers W Zwart R Kraay R Grosveld G Jaegle AG Broos L Meijer D

Protein structure

disulfide bond

Protein structure

Example hemoglobin and carbon monoxide

Questions

bull DNA RNA and protein structure

bull Replication

bull Transcription

bull Translation

Human Molecular GeneticsFourth Edition

Organization of the Human Genome

Nuclear and mitochondrial genomes

Mitochondrial genome

Mitochondrial inheritance

bull inherited from the motherrsquos egg

bull thousands per cell (vary with energy need)

bull all identical (homoplasmy)

bull levels of mutant mtDNA (heteroplasmy)

Mitochondrial inheritance

Male counter part Y chromosomal inheritance

bull Father to son

bull SRY gene

ndash sex determining region

bull no recombination

bull haplogroups

Nuclear and mitochondrial genomes

Nuclear Genome

Organization of the genome

Pseudogenes

Oct-6 gt functional single exon gene

Adv Exp Med Biol 199946813-22

Transcriptional regulation of the POU gene Oct-6 in Schwann cells

Mandemakers W Zwart R Kraay R Grosveld G Jaegle AG Broos L Meijer D

Protein structure

Example hemoglobin and carbon monoxide

Questions

bull DNA RNA and protein structure

bull Replication

bull Transcription

bull Translation

Human Molecular GeneticsFourth Edition

Organization of the Human Genome

Nuclear and mitochondrial genomes

Mitochondrial genome

Mitochondrial inheritance

bull inherited from the motherrsquos egg

bull thousands per cell (vary with energy need)

bull all identical (homoplasmy)

bull levels of mutant mtDNA (heteroplasmy)

Mitochondrial inheritance

Male counter part Y chromosomal inheritance

bull Father to son

bull SRY gene

ndash sex determining region

bull no recombination

bull haplogroups

Nuclear and mitochondrial genomes

Nuclear Genome

Organization of the genome

Pseudogenes

Oct-6 gt functional single exon gene

Adv Exp Med Biol 199946813-22

Transcriptional regulation of the POU gene Oct-6 in Schwann cells

Mandemakers W Zwart R Kraay R Grosveld G Jaegle AG Broos L Meijer D

Example hemoglobin and carbon monoxide

Questions

bull DNA RNA and protein structure

bull Replication

bull Transcription

bull Translation

Human Molecular GeneticsFourth Edition

Organization of the Human Genome

Nuclear and mitochondrial genomes

Mitochondrial genome

Mitochondrial inheritance

bull inherited from the motherrsquos egg

bull thousands per cell (vary with energy need)

bull all identical (homoplasmy)

bull levels of mutant mtDNA (heteroplasmy)

Mitochondrial inheritance

Male counter part Y chromosomal inheritance

bull Father to son

bull SRY gene

ndash sex determining region

bull no recombination

bull haplogroups

Nuclear and mitochondrial genomes

Nuclear Genome

Organization of the genome

Pseudogenes

Oct-6 gt functional single exon gene

Adv Exp Med Biol 199946813-22

Transcriptional regulation of the POU gene Oct-6 in Schwann cells

Mandemakers W Zwart R Kraay R Grosveld G Jaegle AG Broos L Meijer D

Questions

bull DNA RNA and protein structure

bull Replication

bull Transcription

bull Translation

Human Molecular GeneticsFourth Edition

Organization of the Human Genome

Nuclear and mitochondrial genomes

Mitochondrial genome

Mitochondrial inheritance

bull inherited from the motherrsquos egg

bull thousands per cell (vary with energy need)

bull all identical (homoplasmy)

bull levels of mutant mtDNA (heteroplasmy)

Mitochondrial inheritance

Male counter part Y chromosomal inheritance

bull Father to son

bull SRY gene

ndash sex determining region

bull no recombination

bull haplogroups

Nuclear and mitochondrial genomes

Nuclear Genome

Organization of the genome

Pseudogenes

Oct-6 gt functional single exon gene

Adv Exp Med Biol 199946813-22

Transcriptional regulation of the POU gene Oct-6 in Schwann cells

Mandemakers W Zwart R Kraay R Grosveld G Jaegle AG Broos L Meijer D

Human Molecular GeneticsFourth Edition

Organization of the Human Genome

Nuclear and mitochondrial genomes

Mitochondrial genome

Mitochondrial inheritance

bull inherited from the motherrsquos egg

bull thousands per cell (vary with energy need)

bull all identical (homoplasmy)

bull levels of mutant mtDNA (heteroplasmy)

Mitochondrial inheritance

Male counter part Y chromosomal inheritance

bull Father to son

bull SRY gene

ndash sex determining region

bull no recombination

bull haplogroups

Nuclear and mitochondrial genomes

Nuclear Genome

Organization of the genome

Pseudogenes

Oct-6 gt functional single exon gene

Adv Exp Med Biol 199946813-22

Transcriptional regulation of the POU gene Oct-6 in Schwann cells

Mandemakers W Zwart R Kraay R Grosveld G Jaegle AG Broos L Meijer D

Nuclear and mitochondrial genomes

Mitochondrial genome

Mitochondrial inheritance

bull inherited from the motherrsquos egg

bull thousands per cell (vary with energy need)

bull all identical (homoplasmy)

bull levels of mutant mtDNA (heteroplasmy)

Mitochondrial inheritance

Male counter part Y chromosomal inheritance

bull Father to son

bull SRY gene

ndash sex determining region

bull no recombination

bull haplogroups

Nuclear and mitochondrial genomes

Nuclear Genome

Organization of the genome

Pseudogenes

Oct-6 gt functional single exon gene

Adv Exp Med Biol 199946813-22

Transcriptional regulation of the POU gene Oct-6 in Schwann cells

Mandemakers W Zwart R Kraay R Grosveld G Jaegle AG Broos L Meijer D

Mitochondrial genome

Mitochondrial inheritance

bull inherited from the motherrsquos egg

bull thousands per cell (vary with energy need)

bull all identical (homoplasmy)

bull levels of mutant mtDNA (heteroplasmy)

Mitochondrial inheritance

Male counter part Y chromosomal inheritance

bull Father to son

bull SRY gene

ndash sex determining region

bull no recombination

bull haplogroups

Nuclear and mitochondrial genomes

Nuclear Genome

Organization of the genome

Pseudogenes

Oct-6 gt functional single exon gene

Adv Exp Med Biol 199946813-22

Transcriptional regulation of the POU gene Oct-6 in Schwann cells

Mandemakers W Zwart R Kraay R Grosveld G Jaegle AG Broos L Meijer D

Mitochondrial inheritance

bull inherited from the motherrsquos egg

bull thousands per cell (vary with energy need)

bull all identical (homoplasmy)

bull levels of mutant mtDNA (heteroplasmy)

Mitochondrial inheritance

Male counter part Y chromosomal inheritance

bull Father to son

bull SRY gene

ndash sex determining region

bull no recombination

bull haplogroups

Nuclear and mitochondrial genomes

Nuclear Genome

Organization of the genome

Pseudogenes

Oct-6 gt functional single exon gene

Adv Exp Med Biol 199946813-22

Transcriptional regulation of the POU gene Oct-6 in Schwann cells

Mandemakers W Zwart R Kraay R Grosveld G Jaegle AG Broos L Meijer D

Mitochondrial inheritance

Male counter part Y chromosomal inheritance

bull Father to son

bull SRY gene

ndash sex determining region

bull no recombination

bull haplogroups

Nuclear and mitochondrial genomes

Nuclear Genome

Organization of the genome

Pseudogenes

Oct-6 gt functional single exon gene

Adv Exp Med Biol 199946813-22

Transcriptional regulation of the POU gene Oct-6 in Schwann cells

Mandemakers W Zwart R Kraay R Grosveld G Jaegle AG Broos L Meijer D

Male counter part Y chromosomal inheritance

bull Father to son

bull SRY gene

ndash sex determining region

bull no recombination

bull haplogroups

Nuclear and mitochondrial genomes

Nuclear Genome

Organization of the genome

Pseudogenes

Oct-6 gt functional single exon gene

Adv Exp Med Biol 199946813-22

Transcriptional regulation of the POU gene Oct-6 in Schwann cells

Mandemakers W Zwart R Kraay R Grosveld G Jaegle AG Broos L Meijer D

Nuclear and mitochondrial genomes

Nuclear Genome

Organization of the genome

Pseudogenes

Oct-6 gt functional single exon gene

Adv Exp Med Biol 199946813-22

Transcriptional regulation of the POU gene Oct-6 in Schwann cells

Mandemakers W Zwart R Kraay R Grosveld G Jaegle AG Broos L Meijer D

Nuclear Genome

Organization of the genome

Pseudogenes

Oct-6 gt functional single exon gene

Adv Exp Med Biol 199946813-22

Transcriptional regulation of the POU gene Oct-6 in Schwann cells

Mandemakers W Zwart R Kraay R Grosveld G Jaegle AG Broos L Meijer D

Organization of the genome

Pseudogenes

Oct-6 gt functional single exon gene

Adv Exp Med Biol 199946813-22

Transcriptional regulation of the POU gene Oct-6 in Schwann cells

Mandemakers W Zwart R Kraay R Grosveld G Jaegle AG Broos L Meijer D

Pseudogenes

Oct-6 gt functional single exon gene

Adv Exp Med Biol 199946813-22

Transcriptional regulation of the POU gene Oct-6 in Schwann cells

Mandemakers W Zwart R Kraay R Grosveld G Jaegle AG Broos L Meijer D

Oct-6 gt functional single exon gene

Adv Exp Med Biol 199946813-22

Transcriptional regulation of the POU gene Oct-6 in Schwann cells

Mandemakers W Zwart R Kraay R Grosveld G Jaegle AG Broos L Meijer D

Normal Genes

Normal Genes

Repetitive DNA

Repetitive DNA

as genome-wide markers

Transposons

Questions

bull Mitochondrial genome

bull Nuclear genome

Normal Genes

Repetitive DNA

Repetitive DNA

as genome-wide markers

Transposons

Questions

bull Mitochondrial genome

bull Nuclear genome

Repetitive DNA

Repetitive DNA

as genome-wide markers

Transposons

Questions

bull Mitochondrial genome

bull Nuclear genome

Repetitive DNA

as genome-wide markers

Transposons

Questions

bull Mitochondrial genome

bull Nuclear genome

Transposons

Questions

bull Mitochondrial genome

bull Nuclear genome

Questions

bull Mitochondrial genome

bull Nuclear genome