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Tom Strachan • Andrew Read Human Molecular Genetics Fourth Edition Genetics for Dummies 2016 Molecular Genetics I Robert Kraaij, PhD [email protected]

Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD [email protected] . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

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Page 1: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

Tom Strachan • Andrew Read

Human Molecular Genetics Fourth Edition

Genetics for Dummies 2016

Molecular Genetics I

Robert Kraaij, PhD [email protected]

Page 2: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology
Page 3: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology
Page 4: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

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

Molecular Biology of the Cell (MBoC)

Page 5: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

To get you on the same page…

Page 6: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

Human Molecular Genetics Fourth Edition

The central dogma:

DNA - RNA - protein

Page 7: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

DNA and RNA structure

Page 8: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

DNA and RNA structure

RNA

DNA

tri-phosphate

ribose mono-phosphate

base

deoxyribose

Page 9: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

DNA and RNA structure

5 different bases

Page 10: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

DNA and RNA structure

Page 11: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

GC content is an important feature of DNA

DNA and RNA structure

Page 12: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

DNA and RNA structure

5’ 3’

Page 14: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

DNA and RNA structure

secondary structure of RNA

Page 15: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

Replication

DNA-dependent DNA polymerase

Page 16: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

Transcription

DNA-dependent RNA polymerase

Page 17: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

Translation

tRNA

ribosome

Page 18: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

Translation

Page 19: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

Translation

Page 20: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

Protein structure

Page 21: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

Protein structure

Page 22: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

Protein structure

Page 23: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

Protein structure

Page 24: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

Protein structure

Page 25: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

Protein structure

Page 26: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

Protein structure

Page 27: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

Protein structure

secondary

structures

Page 28: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

Protein structure

secondary

structures

Page 29: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

Protein structure

tertiary

structures

Page 30: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

Protein structure

non-permanent bonds

Page 31: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

Protein structure

disulfide bond

Page 32: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

Protein structure

Page 33: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

Hemoglobin and carbon monoxide

o

Page 34: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

Questions

• DNA, RNA and protein structure

• Replication

• Transcription

• Translation

Page 35: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

Human Molecular Genetics Fourth Edition

Gene expression

Page 36: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

promoter polyadenylation

signal

cap site

poly A tail

Page 37: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

5’ UTR 3’ UTR start codon stop codon

Page 38: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology
Page 39: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

Post translational modifications

Page 40: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

Questions

• Gene expression

Page 41: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

Human Molecular Genetics Fourth Edition

Copyright © Garland Science 2011

Genetic variation

Page 42: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

Chromosomes

Page 43: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

Mitosis

Page 44: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

Meiosis

Page 45: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

Meiosis

Page 46: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology
Page 47: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

Single Nucleotide Variation (SNV)

Page 48: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

Questions

• Genetic variations

Page 49: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

Human Molecular Genetics Fourth Edition

Mendelian vs Complex Genetics

Page 50: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

Mendelian vs Complex Disease

Page 51: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

Mendelian Disease

Page 52: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

Complex Disease

Page 53: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology
Page 54: Tom Strachan • Andrew Read · Molecular Genetics I Robert Kraaij, PhD r.kraaij@erasmusmc.nl . 1st (1983) 2nd (1989) 3rd (1994) 4th (2002) 5th (2007) 6th (2014) Molecular Biology

Questions

• Mendelian genetics

• Complex genetics