Note for BIOL 152 with Professor Hagen at KU 3
Note for BIOL 152 with Professor Hagen at KU 3
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Date Created: 02/06/15
UPDATED actual Processes of Evolution January 26 Biology 152 Spring 2011 SE 3 th January 26 2011 Outline Evolution within populations Review of genetics Types of mutationeffects of mutation Point mutations Gene duplications Chromosome rearrangements Genome duplication Recall What is the definition of biological evolution UPDATED actual January 26 2011 Definition microevolution view Essential Terms to Know Locusloci Allele Homozygote I homozygous Heterozygote I heterozygous Genotype Phenotype Gene pool Frequency range from 0 100 OR 00 10 Relative Fitness or fitness review of terms Example cystic fibrosis disease caused by the CFTR gene locus plural loo is CFTR is located on chromosome 7 allele is over 900 known alleles can cause CF deltaF508 allele is most common of these UPDATED actual January 26 2011 Genotype 0 definition For diploid organisms the genotype has two alleles example AA or Aa or aa Gametes have just one allele A or a Phenotype 0 definition If a particular genetic variation has no effect on the phenotype then natural selection can t act on it Genotype Phenotype Allele interactions Dominance Aa phenotype AA phenotype a is Incomplete dominance Heterozygote is intermediate Aa phenotype is not same as aa orAA UPDATED actual January 26 2011 Genotype Phenotype Complications Interactions between different loci may affect phenotype epistasis coat color in mammals The environmental may affect phenotype different phenotypes from same genotype Heritable variation is the essential requirement for evolution Ultimate source is Without mutation there is no new variation Without variation there is no evolution are the fuel for evolution DNA Structure sugappnnsphm haKkbene v I A 1 quot HM T wt N N l H ninlne cytosine a Hydrogen band 5 3 in RNA T is replaced by U 2 Flume m ww wu UPDATED actual Information flow DNA L V mRNA 6 Protein Hng 5 3 mumwmww nun nammn mu m Review DNA to protein Example CAACGTCCGACAAGT J L 1 V7 7 V GUUGCAGGCUGUUCA i 739 IJ J L w v January 26 2011 Review mRNA translation RNA translated into protein Via ribosomes enzymes amp tRNAs Based on genetic code Codon triplet of bases specifies amino acid 64 codons to 20 amino acids Some code for same amino acid Often 3rd position degenerate 3 stop codons gt stop translation a n uuu Phenylalanine ucu uuc Phenylllanine ucc uuA Leucin UCA um lentin uca cw Leucine cu cuc Lelitine ccc CUA Lentin CA CUG Lauriquot CG Auu lsnleudne Acu A Au lmleudne Acc AuA kalenine AcA Am ShnlMeannlm AcG KiUU Valine 60 6 zinc Vallne Gcc GUA Valine GCA GUG Valine 666 7 l Cadon Aminaacid ram 5 1n vluuanrymlhuu Review mRNA genetic code Second Bus Thivd c A c has Senne UAU Tyrosine uou Cysteine ll Sarina e s c serine uAA stop m A Saline UAG Slop l ryp ophan o Pmline cAu Histidine GU Avginine II Praline A Hislidine G A e c Pmiine cAA Glulamine CGA Avgnine A Praline cAG Glutamine CGG Argillinz G Thraanine AAu Asparigine Acu Serine ll Tlnaanine AAc Asparagine MC 5 Thmunine AAA Lysine AGA A e A Tlnaanine AAG Lysine AGG Ag ne 6 Alanine GAu AspanicAcid GGU Glytin u Alanine GA AspavtkAcid 66C Glytine Alanine GM alulaniizAcid GGA Glycine A Alanine GAG GluumicAcid GGG Glyrine G G UPDATED actual January 26 2011 Point Mutations one base changes Point mutations in protein coding genes can have different effects Synonymous mutations Don t change the amino acid Nonsynonymous mutations Change the amino acid Example GAA 9 GQA Glutamic acid 9 valine Responsible for sickle cell hemoglobin Mutation to a stop codon Can cause premature termination of the protein Point mutations in protein coding genes can have different effects Mutation to a stop codon Can cause premature termination of the protein Frameshift mutation Insertion or deletion of a base Causes downstream codons to be misread UPDATED actual January 26 2011 frameshift mutation 3 ACAATGGTACGA 5 3 ACAGATGGTACG5 WW rquotr mm 3 ACAATGTGCCGA5 3 ACAATGTGACGA 5 1quotr vquotv mam rquotvquotF 623 X Mutation rates 0 Rate per base pair Human 10399 per base pair pergeneration HIV 10395 per base pair per day 0 Mutations in the whole genome Human about 320 new mutations per zygote 27 in expressed genes HIV about 50 of new viruses have a mutation Higher rates with mutationcausing agents examples UV light Xrays many chemicals 2n Mutations can affect larger regions of the genome Insertions or deletions can involve more than one base Huntington s Disease progressive brain disorder caused by mutation in H l39l39 gene H l39l39 has 3 bases CAG repeated CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG 1035 repeats 9 normal Extra CAG s added by mutation if gt40 repeats 9 always fatal dominant allele 21 UPDATED actual January 26 2011 Mutations can result from errors in meiosis Unequal crossingover during recombination 9 deletion or duplication of a chromosome region Chromosome Rearrangements Deletions Duplications lnversions order of genes reversed ABCDEADCBE Translocations Reciprocal Nonhomologous chromosomes exchange segments Fission and Fusion 23 Karyotype Kamotype description of set of chromosomes of an organism Number size shape internal arrangement N haploid number of chromosomes 2N diploid number t except gametes A b 1 39 39 R Q n n 24 UPDATED actual January 26 2011 Chromosome Rearrangements in Human Ancestry Hum39anch romosomle jisrhas a uniduezinv rsio39n39 H c G o E P I I Hhuman I l E I Cchmpanzee I I I I Ggorila q I I I I Oorangutan 339 E E E 18 J J Vums and o Prakash 1982Th2 Origin urMan AChmmusumal Plciunal Legacy Sclenc e2151525jg m Chromosome Rearrangements in Human Ancestry N 39U VHru39m39a39n chromosome a v 39 fusio39n39 f gchrom osom es Zp 8e 2qf otherapjes IIJIII II III a n I Il IIIIIII II D t ix 39139 I nil Ii ii in it I ll nl Ill I ll ivcentrpm erezofff heromgsomejps tj E i but centromer Asequences39remain39 139 i i i u E E E O orangutan a N 24 I i zq G gorilla gt N 24 C chimpanzee gt N 24 H55 0 Hhuman HN23 J J Vums and o Prakash 1982Th2 Origin urMan AChmmusumal Plciunal Legacy Sclenc e21515252E3El Chromosome Number Mutations Aneuploidy Cell with a chromosome numberthat is not exact multiple of haploid number caused by Nondisjunction in meiosis Often causes big problems Example 3 copies of human chromosome 21 More common in plants But still disruptive 27 UPDATED actual January 26 2011 Chromosome Number Mutations Polyploidy Cell with more than two of homologous chromosomes 3N 4N etc etc Formed in several ways unreduced gametes 2N instead of N 2N 2N 4N 28 Polyploidy Autopolyploid Formed from one species Allopolyploid H Formed from hybridization of two species 391 391 5070 of angiosperms are polyploids N 2 Hapopappus type of sunflower to 630 Ophioglossum type of fern Less common in animals But does occur Xenopus 2N to 12N Mutations and Genetic variation Mutation is ultimate source of variation Variation is increased by Eukaryotes can form gametes with different allele combos by Independent segregation amp crossingover zygotes from union of gametes with different genes E Can be large source of variation a N w w w w w w w w w w w as 30 1O UPDATED actual Variation and Recombination Increase in variation by sexual reproduction 1 heterozygous gene on 5 chromosome pairs each Independent segregation 32 allele combos Sexual reproduction can also reduce variation genotypes are reshuffled each generation Can lose good combinations 31 January 26 2011 Effects of Mutations Good bad and neutral effects Most nearly neutral some deleterious Easier to disrupt function of a gene a few beneficial Most mutations are pleiotropic affect gt 1 character many organisms have large amount of DNA with unknown function 32 Relative Fitness Definition 33 11 UPDATED actual Environment can affect fitness Example Sicklecell hemoglobin Single base pair mutation Sicklecell anemia GAA 9 GUA incompletely dominant sicklecell homozygotes have low survival heterozygotes have advantage surviving Where malaria is common January 26 2011 Adult Lactose Tolerance Advantageous where milk is available cultural environment Northern European adult lactase persistence caused by C 9 T change within a regulatory gene East Africans G 9 C change at another location within the same gene Change is dominant activates lactase gene transcription in adult 35 Genetics of Adult Lactose tolerance to be continued on January 28 Friday 35 12
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