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Genomics and Inheritance What is DNA? What is DNA Day? What is DNA Day? April 1953 Drs. James Watson and Francis Crick determined the structure of DNA (double helix) What is DNA Day? April 1953 April 2003 Drs. James Watson and Francis Crick determined the structure of DNA (double helix) Human Genome Project determined the entire DNA sequence of a human (3 billion letters) A Genome is an entire set of an organism’s DNA • 23 pairs of chromosomes J Craig Venter Institute The Human Genome A Genome is an entire set of an organism’s DNA • 23 pairs of chromosomes Mother Father • One from your mother, one from your father J Craig Venter Institute The Human Genome A Genome is an entire set of an organism’s DNA Cell J Craig Venter Institute The Human Genome DNA holds instructions for the cell DeoxyriboNucleic Acid (DNA) contains all the information necessary to make a complete organism DNA is composed of a combination of 4 nucleotides DNA holds instructions for the cell DeoxyriboNucleic Acid (DNA) contains all the information necessary to make a complete organism DNA is composed of a combination of 4 nucleotides A Adenine DNA holds instructions for the cell DeoxyriboNucleic Acid (DNA) contains all the information necessary to make a complete organism DNA is composed of a combination of 4 nucleotides A T Adenine Thymine DNA holds instructions for the cell DeoxyriboNucleic Acid (DNA) contains all the information necessary to make a complete organism DNA is composed of a combination of 4 nucleotides A T C Adenine Thymine Cytosine DNA holds instructions for the cell DeoxyriboNucleic Acid (DNA) contains all the information necessary to make a complete organism DNA is composed of a combination of 4 nucleotides A T C G Adenine Thymine Cytosine Guanine DNA holds instructions for the cell DeoxyriboNucleic Acid (DNA) contains all the information necessary to make a complete organism A pairs with T Adenine Thymine C pairs with G Cytosine Guanine DNA holds instructions for the cell DeoxyriboNucleic Acid (DNA) contains all the information necessary to make a complete organism A pairs with T Adenine Thymine C pairs with G Cytosine Guanine Which is how DNA forms a double helix. Base Pair The genome is like a cookbook for the cell A T C G Nucleotides Letters The genome is like a cookbook for the cell A T C G Nucleotides Letters Gene Recipe A sequence of nucleotides composes a gene. The genome is like a cookbook for the cell A T C G Nucleotides Letters Gene Recipe A sequence of nucleotides composes a gene. Gene Genome Cell Billions of nucleotides are packaged into chromosomes. Cookbook Nucleotide Sequence Refresher: What are each of these? Refresher: What are each of these? Cell Genes Chromosome Genome Nucleotides DNA No two genomes are the same Individuals differ at about .1% of their nucleotides. Variant Variant - A position in the genome where individuals have different nucleotides Broad Institute No two genomes are the same Individuals differ at about .1% of their nucleotides. .1% Variant - A position in the genome where individuals have different nucleotides 3 million variants 3 billion nucleotides No two genomes are the same Individuals differ at about .1% of their nucleotides. Variant - A position in the genome where individuals have different nucleotides .1% 3 million variants 3 billion nucleotides A G C T A G C T 1 2 …………………………….. A G C T 3 million 4 choices at 3 million places 43million unique genomes Actually, some genomes are the same Identical twins have the same genome. Actually, some genomes are the same A fertilized egg splits into two identical zygotes early on. The zygotes develop into individuals with identical genomes. Actually, some genomes are the same Clones have the same genome. Actually, some genomes are the same To clone an animal you need a body cell and an egg cell. Body cell Egg cell bbc.co.uk Actually, some genomes are the same Replace the genome of the egg cell with that of the cell to be cloned. Body cell Extract genome Replace egg cell’s genome Egg cell bbc.co.uk Remove genome Actually, some genomes are the same Place the dividing egg cell into the uterus of a foster mother. Body cell Place egg into foster mother Extract genome Replace egg cell’s genome Clone of sheep A Egg cell bbc.co.uk Remove genome Your list of variants is your genotype Example chromosome Variants . G T T .….. … A C A Maternal Your list of variants is your genotype Example chromosome Variants T T C . . G T T A G … .….. A A … .….. A C Maternal Variants Paternal Your list of variants is your genotype Example chromosome Variants T T C . . G T T A G … .….. A A … .….. A C Maternal Variants Paternal Genotype G T T A C A M T T C A A G P Genotype – The variant nucleotides on both maternal and paternal chromosomes. Your genotype is unique. Genomic variants result in unique individuals Big genomic variations allow for many different forms of life Variations in the DNA of different individuals can cause changes in physical appearance or can even cause disease. Variants can result in disease The A variant at position 5,248,232 on chromosome 11 causes Sickle Cell Anemia. …GAG… …CTC… Variants can result in disease The A variant at position 5,248,232 on chromosome 11 causes Sickle Cell Anemia. …GAG… …CTC… …GTG… …CAC… Variant Variants can result in disease University of Michigan The A variant at position 5,248,232 on chromosome 11 causes Sickle Cell Anemia. …GAG… …CTC… …GTG… …CAC… Variant Normal Disease Normal red blood cell Sickle-shaped diseased red blood cell Variants can result in disease Genotypes observed A A A T T T Variants can result in disease Genotypes observed A A A T T T Normal Mostly Normal Sickle Cell Anemia micro-scopic.tumblr.com microscopyu.com http://legacy.owensboro.kctcs.edu/ Variant correlated to disease Sickle Cell count A A micro-scopic.tumblr.com A T T T microscopyu.com Genotype http://legacy.owensboro.kctcs.edu/ Variant correlated to disease Sickle Cell count A A A T T T Genotype Variant correlated to disease Sickle Cell count steep slope = correlation A A A T T T Genotype Variant not correlated to disease The Sickle Cell A/T variant is the only variant correlated to the disease. Any other variant is not be correlated. For example: C/A variant Chr11:119,553,795 Variant not correlated to disease The Sickle Cell A/T variant is the only variant correlated to the disease. Any other variant is not be correlated. For example: C/A variant Chr11:119,553,795 Sickle Cell count C C C A A A Genotype Variant not correlated to disease The Sickle Cell A/T variant is the only variant correlated to the disease. Any other variant will not be correlated. For example: C/A variant Chr11:119,553,795 Sickle Cell count no slope = no correlation C C C A A A Genotype Genome Wide Association Studies find variants correlated to disease Disease Correlated AA AT TT Genotype Disease Not Correlated CC CA AA Genotype Genome Wide Association Studies find variants correlated to disease 1. Pick a disease to test 2. Find individuals with and without the disease Disease No Disease Genome Wide Association Studies find variants correlated to disease 3. Get genotypes of the individuals 4. Test variants for their correlation to disease Disease Disease or AA AT TT Genotype CC CA AA Genotype Please PAUSE and take a moment to complete the activity Every cell in your body has the same genome, except… If you are a mosaic or a chimera, some cells in your body carry a different genome. Every cell in your body has the same genome, except… If you are a mosaic or a chimera, some cells in your body carry a different genome. © Garland Science About the Scientist: • What do I study? • Why do I love science? • Questions? Join us for the 1st annual NC DNA Day science festival to learn more about the biological and biomedical research going on in the state! May 18, 2013 UNC Student Union Great Hall 10am-12pm Register to attend The classroom with the most attendees will win a pizza party! Science Art Contest Create a painting, drawing or 3D model that embodies biomedical sciences. Prizes will be awarded! See website for more info. ncdnaday.org/festival Run to Support Science Outreach and Education in NC 9:00 AM | Saturday, May 18th 2013 Run Through UNC Chapel Hill Campus ncdnaday.org/5K