UCLA HNRS 70A - HC70A-W11-2-10-11-Lecture5-6 (118 pages)

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HC70A-W11-2-10-11-Lecture5-6



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HC70A-W11-2-10-11-Lecture5-6

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Pages:
118
School:
University of California, Los Angeles
Course:
Hnrs 70a - Genetic Engineering in Medicine, Agriculture, and Law
Unformatted text preview:

HC70A SAS70A Winter 2011 Genetic Engineering in Medicine Agriculture and Law Professors Bob Goldberg John Harada Lectures 5 6 The Age of Genomics Your Personal Genome Tracing Your Ancestry Course Administratorp THEMES 1 Two Genomes in a Cell 2 What is the Mitochondrial Genome and How is it Inherited 3 What Are the Characteristics of the Human Genome 4 The Age of the Personal Genome Has Arrived 5 How Many Mammalian Genomes Have Been Sequenced and What Can We Learn From Comparative Genomics 6 How Does Genetic Variation Arise in the Human Genome 7 How to Use DNA Markers to Find Human Disease Gene Alleles 8 How to Detect DNA Sequence Variation SNPs and VNTRs 9 What Can SNPs Be Used For 10 Tracing Human Ancestry Using SNPs 11 Are Their Human Races 12 Knowledge or Certainty Human Cells Have Two Genomes One in the Nucleus and One in the Mitochondria Do Nuclear Mitochondrial Genes Have Different Inheritance Patterns The Nuclear and Mitochondrial Genomes in Size Shape Nuclear 3 2 Mb 25 000 Genes 24 Linear Pieces Mitochondrial 17 kb 30 Genes 1 Circle The Nucleus Is A Complex Organelle With 23 Pairs of Chromosomes Humans Packing Problem RNA Protein Transport The Human Genome End to End is 1 1 Meters in Length Note Chromosome Sizes Bands Markers The Human Karyotype 3 2 x 109 bp 3 2 Mb Note Chromosome Sizes Bands Markers The Mitochondrial Genome Mitochondria Power Human Cells and Contain a Circular Genome Makes ATP Energy That Powers All Cells Semi Autonomous Genome DNA Divides Transcription Translation Mitochondrial Proteins Mitochondrial DNA Diseases Affect 1 400 People MERRF A Mitochondrial Disease Example No Mitochondria In Sperm Heads Egg Mitochondrial Genes Are Inherited a Paternally b Maternally The Circular Mitochondrial Genome is Inherited Maternally Disease Genes Present on the Mitochondrial Genome Many Affect Muscles Because Mitochondria Produce Energy Needed For Muscle Activity How Are Mitochondrial Gene Defects Inherited No Mitochondria In Sperm Heads Egg Note Maternal Inheritance Disease Passed From Mother to All of Her Children and Not Passed on By Father Nature 461 September 17 2009 Mito and Tracker Future Mitochondrial Gene Replacement Therapy Mutant Mitochondria 1 2 Normal Mitochondria 3 Note The Zygote Contains THREE Genomes One from Mother One From Father and One From Donor Mitochondria How to Test Whether It Works Testing on Live Human Embryos When To Test Its Effectiveness Safety Long Term Potential Problems Research Protocols Oversight Informed Consent of Parents British Medical Journal January 8 2011 342 87 89 RFLPs Can Be Used to Identify Individuals Using Mitochondrial DNAs 100 of Children Have 8 6 kb DNA Fragment From Mother Note How Mitochondrial RFLP Markers Are Inherited Tracing Human Populations Using Mitochondrial DNA Polymorphisms Back to Eve Oldest Populations Contain the Most Diversity Time Detected By Using Specific Markers RFLPs or SNPS Old Variants Trace Ancient Lineage New Variants Mark New Populations SPECIFICALLY Lots of Old Variants Subset of Old Newest Variants Population New Variants Oldest Population Most Genetic Diversity Originated in the Founder Populations to Modern Humans 1 Most Variation 2 Migration of Subset of Population 3 Subset of Original Variability New Mutations Variability Younger Populations Less Genetic Variability Genetic Variation Proportional to Population Age Markers From Original Population New Markers For New Population The Nuclear Genome Dominant or Recessive Note Gene is Inherited in a Mendelian Pattern The Human Genome Was Sequenced Ten Years Ago The Human Genome Project Public Private Effort Using Different Strategies A Race 3 Billion Dollars Took 15 Years The Public Human Genome Project Cost 3 Billion Dollars Took 15 Years Today We Can Sequence an Individual s Genome in Two Hours For 700 The Human Genome Could Not Have Been Sequenced Without The Invention of Genetic Engineering Cohen Boyer Experiment That Invented Genetic Engineering Genes Need to Be Cloned Before They Can Be Sequenced The Age of Genomics is a Result of the Age of Genetic Engineering The Human Genome Only A Small Fraction of the Human Genome Encodes Proteins The Human Genome Has DNA Sequences Present Once As Well as Repeated Many Times Human Genes are Large but Contain Mostly Introns Characteristics of the Human Genome Duchenne Muscular Dystophy Smallest Gene is 252 bp Ecodes an Insulin like Growth factor Table 4 1 Molecular Biology of the Cell Garland Science 2008 The Human Genome Contains 25 000 Different Genes Use Bioinformatics To Identify Gene Functions Do Not Know Functions of Most Human Genes How Many Encoded Proteins Alternative Splicing Alternative Splicing One Gene Several mRNAs Proteins Gene Activity in Varity of Cells But 5 Different mRNAs Different mRNA Different Proteins Different Functions Implication Human Genome Has Only 25 000 Genes But Can Give Rise to Many More Proteins which Are Responsible For Producing the Phenotype Reason Why Human Genome Can Contain Same Number of Genes as Fly and Plant Genomes Implications for Genetic Engineering Use Specific cDNA How Many Human Disease Genes Have Been Identified There are 25 000 Genes in The Human Genome 1 2 700 Genes Correlate With a Disease Phenotype 2 The Molecular Basis of 90 of These Genetic Diseases Are Known e g Sickle Cell Anemia Hemophilia A Nature Education 1 1 2008 http www nature com scitable Examples of Human Disease Genes That Are Known Genetic Tests Exist For These Disease Genes The Human Genome Landscape 1 Mendelian Gene Transposons 2 Tandem Repeats VNTR Tandem Repeats or VNTRs are Useful for DNA Fingerprinting Studies e g DIS80 Locus For Class DNA Fingerprint on Chromosome 4 Core 16bp DNA Sequencing Throughput Has Exploded Cost of Sequencing is Going Down Precipitously Sequencing the Old Fashioned Way 2 Sequence One DNA Fragment at a Time 1 Clone DNA Fragments and or Genome 500 bp lane Radioactivity Autoradiograms 24 Hrs Manual Chemicals Maxam Gilbert 1975 New Sequencing Technologies Have Lead To An Explosion of Whole Genome Sequencing 2 9 11 1581 9640 http www genomesonline org cgi bin GOLD bin gold cgi 11 221 NextGen Sequencing Has Lead To An Explosion of Whole Genome Sequencing No Cloning Random Shearing of DNA Attachment to Microbeads One DNA Sequence per Microbead PCR Amplification Sequencing By DNA Synthesis Fluorescent Nucleotides Sequence Millions of Unique DNA Fragments at Same Time Massively Parallel DNA Sequencing Sequence By DNA Synthesis One Nucleotide at a Time


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