Hereditary qualities 320/EEB320/MCB320 S1 Address 1 August 23, 2004. Ted's Presentation Style Remarks Overheads - right-

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Book-Genetics: From Genes to Genomes. Hartwell et al (previous associate) second version (take ... Transmission Genetics versus Exploratory Genetics S4. Sample: Genes ...

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Hereditary qualities 320/EEB320/MCB320 S1 Lecture 1 August 23, 2004. Ted's Introduction Style Comments Overheads - right-hand screen Copies of figures utilized: Web page booklet at book shop NOT COMPLETE!! NOR SELF-EXPLANATORY Chalkboard - ~1/5 of the presentation Informal. Make inquiries. Stories Book - Genetics: From Genes to Genomes Hartwell et al (previous associate) 2nd version (take your risks and responsibility with first release) Problem Sets-Weekly-out Friday, due Friday By 11AM in box in front. Period. A debt of gratitude is in order for being on time. Exams : - 3 of them. Hone issues accessible (Ted)

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Today's Lecture: S2 Big Picture: Transmission hereditary qualities, Experimental hereditary qualities, Genomics Wed, Fri Review of essential atomic science Preview of Experimental Genetics Chapter 1. Pages 1-12 Homework PS1 Due August 31, Friday-10 focuses. Written ONLY. Portray ONE an intriguing thing in science that you've listened, or that you'd get a kick out of the chance to hear more about, or that motivates you, or that riddles you; or that panics you? What are your vocation goals? Name one thing you'd get a kick out of the chance to learn in hereditary qualities.

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Transmission versus Trial Genetics S3 Example: Genes required in eye advancement in flies Mutant fly without any eyes ! Ordinary fly with eyes ?? Wildtype-" Gene 1 +" Gene 1-(Gene 1 -/Gene 1 - ) Transmission Genetics Question: Where are the qualities? Fly cell - + - Gene 1 Fly cell + - + (2 sets of homologs appeared)

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Transmission Genetics versus Exploratory Genetics S4 Example: Genes required in eye advancement in flies Normal fly with eyes Mutant fly without any eyes Nothin " Wildtype-" Gene 1 +" Gene 1-(Gene 1 -/Gene 1 - ) Experimental Genetics Ultimate Goal: Define what qualities (proteins) do. Hereditary qualities Goal: Identify Genes Define request of capacity Define positive & negative controllers Example of Genetics Goal: Define A Pathway of Eye Development Signal Gene 1 + Gene 3 + Gene 2 + eyes And: Test particular biochemical models

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S5 Use of Model Organisms in Experimental Genetics Phage Diversity in size, in genomes… ..& in what they inform us regarding science. Flies Yeast Bacteria 10uM Mice

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S6 Genome Comparisons-"Synteny" of mammalian genomes Human-Ape correlations Humans/extraordinary gorillas Chr 1 Chr 2 Very comparative… "banding design" Human-Mouse Human chromosomes Wildly Sequence content Wildly blended! Mouse chromosomes

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S7 Genomics and Technology brings potential for finding: Example: BRCA1, bosom disease helplessness quality. Engineered DNA atoms and traps prompt to the succession of a quality… Brca1+/Brca1+/Brca1-DNA sequencing of human genome: Took quite a while and $millions In<10years, your genome sequenced in 1hr for $1000!!!! (says Lee Hood, Seattle, Wa) Implications for malady… "invaluable"

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Some essential sub-atomic science Example: eye qualities in flies S8 Normal fly with eyes Eye1* mutant no eyes Eye2* mutant different eyes! Hereditary qualities "make" mutants, recognizes qualities. A couple of fundamentals about qualities… . Sub-atomic science of a quality Genotype/phenotype/passive/prevailing Order of Function (bars and bolts)

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S9 Molecular science of a quality Eye1 + Diploid cell centromere telomere mRNA transcript E P ATG… … ..TGA Transcriptional administrative destinations Elements of run of the mill quality ORF-" O pen R eading F rame"- ORF 3 nucleotides code for amino corrosive. sense TTT, TAT, ATG, and so on (61) gibberish TGA. TAA, TAG "stop" codons (3) P - promoter, RNA polymerase restricting site E-"Enhancer" restricting site; helps RNA polymerase 5' and 3'untranslated areas of transcript (No introns here to improve the exchange)

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S10 Chapter 1: Genetics: The Study of Biological Information Key Points: Bioinformation is in DNA Biological capacity develops for the most part from proteins Complexity in natural frameworks All life is firmly related Modular development, quality families and fast advancement of GENOMES Model life forms permit us to make sense of "Life" Focus on human hereditary qualities

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S11 Bioinformation: Resides first in DNA chromosomes DNA ~10 base sets ~100 million base sets Base-matching Gene thickness DNA-A-T, C-G base blending: Gene thickness (>50% in microorganisms, ~3% in people… Chromosomes have fiercely unique sizes-~10 8 bp/chromosome in people ~4x10 6 bp/chromosome in microbes

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S12 Central Dogma

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S13 Bioinformation: work in proteins (generally) Numbers contention: 20 amino acids in proteins 4 bases in nucleic acids, (and other competitor atoms - starch?) Some enzymatic capacities in RNA… (life may have started with RNA, truth be told) Bioinformation : proteins-proteins, proteins-RNA, proteins-DNA

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S14 Complexity … . Why the investigation of science will proceed for a long time. 1. "Mind-boggling" scope of scale.. 2. All the more Practically: most proteins have more than one capacity with numerous capacities (cytochrome C in vitality and cell demise)

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S15 third Level of Complexity 1 protein impacts various buildings (An approach to comprehend why diverse alleles may have distinctive effects in various individuals) "If protein 1 is less dynamic, then protein 1 may shape less protein1-protein5 complex, which implies that protein-5 subordinate capacity is lessened, which implies that… ."

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All life is firmly related S16 Conservation of Cytochrome C between living beings.. Yeast PlantsWormsFlys Mice Human Pax6 controls eye improvement … in flies and people… !!!

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S17 Modular development and quality families permits for fast advancement of genomes What is a quality family: basically related proteins How they emerged amid development; quality duplication

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Gene Family: Immunoglobulin overlap S18 Proteins with comparable structures advanced from single quality… and now have diverse capacities

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S19 Model life forms and hereditary strategies permit us to make sense of "Life " (we trust) Wildtype mutant Model Organisms

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S20 Ultimate concentrate on human hereditary qualities (.. innovation gives an awesome help… )