BIO152 Unit 2 PDF

355 #336 - Chapter 15 The Chromosomal Basis of Inheritence in the genetic material of DNA # DNA is the blue...

355 #336 - Chapter 15 The Chromosomal Basis of Inheritence in the genetic material of DNA # DNA is the blue print of life , codons that are part of the loci , help describe the Amino Acid neededto make a polypeptide chain. ↑ - Z ucleotides Gel c odons... Genes are chunks of DNA, that code for a molecule. These genes are responsible for inheritenc of Phenotyfie the traits DNA Template Strand 5 AUG GGC WAC CCGGUCUAA 3' RNA This sequence creates many molecule CAmino Acids - Protein That molecule is used towards a traiteyes color, hair , etc... ) Traits passed down to the offspring the form of gener - are in. They tell the body how when and what to make the proton - ,. Chromosomes are long strands of DNA , wraffed around histones , genes are found in chromosomes , in quantities of thousands.  Chromosome theory of Inheritence is the theory where a gene may differ at a specific loci to another loci in the chromosome. Chromosome 23 are sex determining chromosomes, and are unique to a y and xi C X Has about 13 the length - - 90proteinasprot in Females have a XX sex determining chromosom e. Dad - Males have a XY sex determining chromosome. mom  · Phenotype for a more common phenotype is reffered to as the wild type · Mutant Phenotype are known to be a change or a mutation of the wildtype allele. ---- - Chromosomal Basis of Sex Sex is binary · / & Male Female · The sex chromosomes are XandY , they pair to be either [ *Xmal,e If X sperm meets > chromosome (female) egg , The zygote - a a X chromosome will be XX , If Y chromosome sperm meets > XY (male) - X chromosome egg , The zygote a a will be , sex-determining ~ · A gene on the Y-chromosome called SRX-ofY 'Region If this present · gene is , the body will make testicles > If gene absent will make is , the body ovaries Sex linked genes X-linked contain genes unique to the X chromosome genes X-linked contain gener to the Y chromosome genes unique > Due to Y in the few disorders passed from chromosomes having less proteins gener , very are the father to the son.  Responsible forcreating ones - The development of the Female gonads called · requires a gene WNTY If Female male XY embryo has extra copies of WNTY develop > this gonads - an can in a. , Female ~ - Male Not all organisms follow the system (ex chicken has a System]) · X-Y. ZWand ZZ EZ-W Inheritence of X-linked Gene Dominant OR A trait disorder determined the X-chromosome · or by a gene on Recessive Short-recessive ex Phenotypes : ↳ Female x Short Normal Male XS XS Recessive XmYominant P-Gen - b / XS Y XS Y & I ↳ XS L Y L XXXX * Y Female ~ XS XY XSX* XY Short Male FiGen ↓ ↓ Both females will be tal sperm Both males are short X* Y FaGen- S · Females are : I short and I normal XSX XSY Eggs ↳ ⑨ Males are : Ishort and I normal XS XX X* Y  · For X-linked trait be a recessive to expressed (homozygous) (ex x9 * > - Females needs 2 copies of the allele. X > - Males need I copy of the allele Chemizygous) (ex. XFY) * Hemizygous is used for such cases , hemi means half, one copy of allele rather than two. - - - - - - Transmission of X-Linked Recessive traits · Colour Blindness (Mostly X-Linked · Duchenne muscular dytrophy · Hemophilia CX-linked recessive - - - - Q If with hemophilia marries who does not have hemophilia , what is the a man a women what is the probability of their boys having hemophilia ? Hemophilia Always homozygous (Mom) -(Dad) - = XByBXPY % Dad's XP is Xy B not passed F down (Son) % Son has a 0 % chance of having hemophilia but daughter will be 100 % carriers but will not have hemophilia * · Always assume homozygous if question don not state. * - X- Inactivation in Female mammals An X chromosome inactivated during early embryonic developement, as result females · is a don't create twice as much protein. to exist in an in active Function them No form - > - The inactive X will condense into a barr body If Female for heterozygous > will be mosaic for that character gene , she - a is a * Inactivation in tortoiseshell cat Inactivation of each chromosome happens randomly > - > - All Female mammals are mosaic amount Lethal - > If their X too much active they would have Protein their bodies - was in , # · Each chromosome (except Y) has thousands of gener. Gener proximal to each inherit together · other tend to these in a genetic cross, genes are known as linked genes. Ax ·...... Linked Not Linked Not Linked During Meiosis Prophase I · the loci , are swapping Closer gener chances of recombination · = Higher together Therefore traits at a due to being inherited together proportion them · , are higher ,.  Genetic Recombination and linkage Offspring that inherit parents phenotype parental · a is known as type Offspring don't inherit that parental phenotype called recombitant types, recombitant · a are or , ex Linked and genes crossing over. - Round eyes : Dominant (E) Vertical : Recessive (O) eyes EETT Pett PGen No tooth - : Dominant (T) Round eyes No tooth Vortical Este & tooth : Recessive (t) Carrier ! get t EeTt F , Gen EEX 1 TT xEt vertical Round eyes 19 eyes & tooth No tooth (Homozygous) En Ee En Ee To EeTt EeTt EeTt EeTt Tt EOTt lett lett Bett Fz EeTt · Fett & eTt gett Eett Eett Eett EeTt Round Eyes Round eyes Tt ·Vortical e see vertical eyes · Phenotype Notooth & tooth , tooth 1 TE Fett lett lett Bett Ratio 1 · 2 · I · En X E El &9 && F Child , > - Only Normal eyer No tooth ~ ⑮ Tt EeTt FoTt peTt ge Tt Xeet It But... It will be a carrier Of vertical Tt EeTt EeTt eeTt eeTt eyes One tooth t Eett Fett gett sett It Fett Eett gett gett # Alteration of Chromosome numbers ! · Ideally , the spindler split chromosomes to the daughter alls without error Nondisjunction when the chromosome fails to > split abnormal Division - occur the Nondisjunction process cell to have the > in meiotic - a causes chromosomes evenly , in all of its gameter. Pair Missing ! 3 3 3 CExtra unaffected chromosome can happen in meiosis I ou -  one's will without - Aneuploidy- is result of nondisjunction futilization of sparm with an egg to form zygote - a a a a result, As the offspring will have abnormal I of chromosome · a an. - one somatic Monomic Happens when the sperm that only fertalizes - contains set of chromosome one an egg. · Causes a disease called the Turner's Syndrome , when one X chromosome is missing or partially missing - Three Frisomic Happens when the with forms > sperm 3 sets of chromosome zygote - a · Causes Down Syndrome where the , gameter have an extra X chromosome "somic" only applies for > # of chromosome particular chromosome - of a. ex set of chromosome Specific ~ A Karyotype is being analyzed , and chromosome #21 , has an extra or less chromosom e.  -many Polyploidy is where complete - a circumstance more than two chromosome set are Friploidy (3n) : is three complete sets of chromosome Tetraploidy (Yn) : are four complete sets of chromosome. · Polyploidy are much common in plants than in animals Polyploidy appear normal phenotypic appearance rather than aneuploidy · in ,. Because > less significant genetic - one extra chromosome or causes imbalances , compared relatively to of complete set of chromosome  Alteration of Chromosome Structure -Errors in meiosis can be caused by radiation or other factors. There 4 main types of chromosome alteration · are Deletion (F(G-FI -X · Occurs when a chromosome Fragment is lost , which causes a missing gene. The missing Fragment may attach to another chromatid g which · can cause a... 2) Duplication is type of mutation , DNA's segments duplicated · a in which chromosome is EFIGIN __ EFIG In 3) Inversion EFIGIN is where chromosome segment is reserved order T · a in > - ex. initially (B , < , D) - > (D , C B) , -(G/n  4) Translocation is the possibility for a chromosome's segment to join a non-homologous pair most common Reciprocal Translocation is caused by when both fragments of each pair one exchanged ↑ DEF/G/n pla ↑ R eFaIn #R - - - - - - - - - - Human Disorders Three 1) Down Syndrome CTrisomy 21 Occurs when the chromosome extra chromosome due to nondisjunction · set 21 has an. is genetic disorder · a Patients presented with mild or moderate · are intellectual disability , growth radiation , and unique facial features.  Aneuploidy of - _ Sex Chromosomes are caused by the nondisjunction of sex chromosomes Types : > - XXX Females are healthy , due to early stage X- inactivation. > XXY males (Klinefolter Syndrome) presence of trisomic chromosome in males - is the sex. x-inactivation helfs but resisting symptoms are small testicles which produce little to no sperm. Tall height , less muscle mass and enlarged breast tissue. > Monosomy X CTurner's Syndrome) produces XI Females which the body to have - causes , les protein production , short height and failure of ovaries developement. Question : For alteration in the sex chromosome , in which parent did the nondisjunction occur ? · XO - Both · XXX- Both - Both · XXY - Only Dad · XYy Danny's Pedigree I # > - Prevalent in males more (X-Linked > - Dominant (Does not skip a generation ) Hi ·* > - Females are mosaic 8 X-linked Dominant due to X-Inactivation # :  355 #336 - Chapter 16 The molecular Basis of Inheritence in the genetic material of DNA  DNA is the genetic material known polymer of nucleotides > to be - a Each DNA consists of 3 main components : · I 1) Sugar (deoxyribose) E Diameter = Zum > 2) Phosphate group 3) Nitrogeneous Bases I0. 34nm The Bases are : to Break Easier Ademine Thymine ↑ 3) Guanine Cytosine Hydrogen Bond · The I'carbon connects to the Baser 5' end carbon The connects to the Phosphate · > Phosphate links the molecules , ultimately the backbone of the DNA - sugar serving or Phosphodiester bond present between the hydroxyl groups the 3 of > - is on the adjacent nucleotide.  · In each DNA , the adenine equals the percentage of Thymine , same applies to and cytosine guanine Chargaff" Rule I DNA base ratio will vary across species 2) The base pairs are roughly equal Aurines have a double ring structure. Pyrimidines are single ring structures and uracil · Rosalind Franklin and Maurice Wilkins used a technique called the X-Ray crystallography to study the molecular structure of DNA & There are 2 species of Bacteria both , have a genome of 6 mil Base. Paris A has and AT Pairs 1) Species Y million GC Paise , I million. 2 Species Bhar Umillion AT Paire and 2 million GC Pairs. , Which species can survive in a higher temperature ? Why ? Ans : Species A because of the hydrogen bond advantage in GC paise. - - NA Sequences > - Genetic information is carried in a sequence of nucleotides - The one side of DNA runs from 5 to 3 and to match this sequence the Prime 51- antiparrell has to travel 31 to eX. - 5 ATGCATGTCAG 3 # DNA Replication Each strand of the DNA complementry, they each stone the information to - are as construct one another. - DNA replicated during the S Phase of Interphase · is Proteins (enzymes) involved in DNA Replication ~ isTopoisomerase : works to prevent the DNA to tightly being coiled and releases tension It does this by cutting buildup. and rejoining the strand. - - - - - - Helicase licase: for unwinds - is responsible the DNA and breaks the (Y-shape) Hydrogen Bond , it starts to spin the strand really fast as it uninds. It results in the formation of a fort pication - - - - - - - - - - - Single Strand Binding Protein (SSBP) : prevents the Hydrogen Bonds to form again I between the base pain. · icase · SBP 4) Primace works to create primer by making small RNA is enzyme that peice of : an a a and initiates a starting position for the DNA Polymerase. The Primace user uracil instead of Thymine in the creation of the primer , which will be removed later. Primase user the RNA nucleotides , due to its speed efficiency , and so it can also be differentiable from the original DNA strand. - - - - - - - - 5) DNA Polymerase : enzyme responsible for the creation of the DNA strand. It places opposing but matching base pairs to create a replica of the strand The. DNA Polymeras ONLY works continuously in the 5' to 3 direction. ------ - 6) Okazaki Fragments : This is an incomplete strand of DNA , which is created by DNA polymerase #I. order whenthey --- found---- were 7) DNA Polymerase I: is responsible for theRNA removing Primer , it worst one it remove the entire strand and replace with compatible DNA Strand.  Since both DNA Strands anti-parallel they each the opposing direction · are run , is Leading Strands as the name applier , this strand is synthesized continuously in the same direction as the replication fork This is due to. DNA Polymerase #, moving in the 5 to 3 direction. 2) Lagging Strand : Due to the lagging strand travelling the 3' to 5 direction it can get complicated for the DNA Polymerase #I. As a result , Primase has to place multiple frimers for DNA Polymerase # to bestow upon. Then it creates okazaki fragments. - - - - - DNA the 8) Ligase enzyme seals the fragments both strands to form strand : Okazaki in a continuous. Clays Foundations) Wi t h Fragments) wind (Gluer (Foundation) Tension (Maker DNA Strand) our Losing star as 5 3 31 S' ? 3 Leading Strand (prevents rebondings)  Proofreading and Repairing DNA DNA Polymerase works to proofread the DNA , replacing any incorrect nucleotides ·. · A mismatch is T may when be binded with G , or A with C. · In mismatch repairs repair , enzymes take the strand out and insert a newly compatible. one This strand is joined by ligase of enzymes Nuclease (Group. -  Significance of Altered DNA Nucleotides · Error Rate after proofreadings are low but never , zero · These changes can be fermenant which could result in generational inheritence. These fermenant changes DNA called mutations ! · in are , · Our a longer period of time , there changes will rack up and create a new species. - Replicating the ends of DNA molecules for Not issue prokaryotes their chromosome Ccircular) has end - an as no. , In eukaryotics Telomeres the caps of the chromosome structure with each replication · , are , they get smaller. When they get too short they can NO LONGER DIVIDE , as a result the cells stop divicing or die. This is partially the reason we age. · This happens on lagging strand , when the RNA frimers are removed , The DNA Polymerase Send where it Without I has no can attach to. an attaching point , these unsynthesized ends are called overhangs which can contribute , to the existence of tolome over time.  · Telomerase is an enzyme which bind to the 3 overhang. > - Telomnase has 2 part · RNA part · Protein part RNA blueprint it translates to > is like which nucleotides to place - a as. , the nucleotides Protein part places > -. * * If it placed RNA nucleotides , the exonucleare would remove them again overhang while - The Primer is set and by telomerase DNA Polymerase HI finishes the , DNA Ligase glues the fragments. If there is telomerase cell would longer in they live · more a ,. Cancer Cells high levels of uncontrolled > have telomerase their division - , as is. Because the shortening of telomerase also acts safety mechanism, it · as a as makes them "mortal" #3 LINA Packaging- DNA packaged to form structure · is a. DNA is packaged around Proteins. · In Prokaryotic · The DNA is packaged in a supercoil shape , and it is densly packaged · The dense are of a bacterium , is known as a cleoid There is only ne chromosome in Prokaryotics ·. ↳ haploid - - - - - - - - - - In Eukaryotes Telomeres ↳ Chromatin refers to the mixture of DNA and · F -entromers its associated proteins , it is the basic structure of a chromosoma. · DNA is 2 nm in diameter  Histones · are proteins that is responsible for the packaging of DNA during the interphase. ~ Lys or Arg 1 · More than a fifth of the histone amino acids are positively charged allowing , for a strong bind. - - _ open chromatin - Aucleosomes and Euchromatin · are loosely arranged structures of a chromatin , they have a "Bead" like structure. · The string holding them is called linker DNA · Each bead has histones their tail extends outwards to , support the wrapped DNA. - - - - - - - Heterochromatin · In this configuration , the DNA is more densely arranged · Achieved in the interphase of Meiosis and Mitosis · In a Heterochromatid the DNA is unavaviable for replication , due to its , uninteruptive structure. Condensation of the chromosomes · Before mitosis , da replication occurs in synthem of interphone , where the 46 chromosomes are split into 92 chromatids and replicated to turn them into 92 chromo. In Prophase , the chromosomes not organized and loosely arranged They · are. go through the process to condense themselves for a better structure. / Shorter  387 #357 - Chapter 17 Gene expression : From a gene to a Protein # Chapter 17/ Genes to Proteins · Specific DNA sequences lead to the production of specific Proteins · Proteins are the link between Phenotype and genotype. Lone expression where DNA direct the is the process synthesis of Proteins. has 2 stage : 1) Transcription : is a process where a DNA sequence is used as a templeate strand to make amR. This happens during GI/S phone of Interphase Translation : the ribosomes 2) occurs in on the rough endoplasmic reticulum CRER) it, is the from where mRNA's information is extracted to bind specific Amino Acids based on its codons to synthesizeprotein. s - - - - - - · Not all Proteins in the body are enzymes Basic Principle F Transcription and Translation · The monomers of Proteins are Amino Acids which , are sequenced in a linear specific sequence. Transcription Translation · is the Synthesis in the synthesis of of RNA using the a polypeptide chain of DNA information using the mRNA · The final RNA made· The ribosomal RNA called CrRNA) translates the messages RNA is (mRNA) mRNA. &cra a ua It carries the information "Based · on the codons , the from DNA to synthesize transport RNACARNA) gets a protein the Amino Acids. Happens in the nucleus Occurs the ribosomes · - in Gene expression all Prokaryotic eukaryotic cells · occurs in and. This genetic flow DNA TRANSCRIPTION > RNA -> Proteins of information is TRANSLATION M called the Central Dogma ↳ Pre-mRNA RNAS mRNA. Processing  Gene Expression happens at the same place and the same time for Prokaryotics While, transcription only happens in the nucleus of theeukaryotic cells Translation. happens in the ribosomes of the eukaryotic alls. - Codons : Triplets of nucleotides -sequence is the flow of information needed to identify the specific amino acids needed to produce a polypeptide chain. The 3 to 5' strand of a DNA used templeate strand because mRNA · is as a , functions only from I' to 3 , further more DNA is antiparallel. -intermediate template strand · Thymine is substituted with uracil in the structure of NA -Base Pairs ⑨ 3CS' DNA will provide an mRNA of S mRNA SGG · There are 20 Amino Acids ,300 nucleotide mRNA will code a 100 Amino Acid chaim.  Codon Table Figure #17 6. intended for the of · is only use translating mRNA Codons to specific Amino Acids. ex UUG translates toLeucine · There are 3 codons that terminate the elongation of the Polypeptide chain. and UGA > They are : UAA , UAG A start codons initiates the start of polypeptide chain · a new , --------- A Translate the sequence into the chain of Amino Acids. 5 - AGA GAA CCG CGA-3 -Aug-Glu Pro-Arg-3)  # 17 2. Transcription : a closer look RNA Polymerase is the enzyme that takes the duty of transcription. stops = 1) Pries the DNA Strand G2) Joins nucleotides to the templeate strand S 3) A mRNA is formed · RNA Polymerase only functions in the 5 to 3 direction. · RNA Polymerase are able to start without a RNA Primace , and don't require a Primer. The Big Three Steps 1) Initiation : A Promotor is a region to where RNA Polymerase binds to initiate the process of Transcription , at the template strand after the DNA strands have been unwinded. 2) Elongation : RNA Polymerase mover downstream while connecting RNA bases to the template strand. 3) Termination : Soon enough , the RNA transcription is released when Pro-mRNA is formed. Polymerase detaches from the strand. RNA Polymerase stops when it reaches the terminators a sequence of DNA nucleotides thatmaketheindoa gene------------- - - - - - RNA Polymerase 2 & Promotor Terminator (TAT) Transcription unit  Synthesis of an RNA Transcript · Before a promoter , a TATA box is present where it guides the transcription factors to place themselves before RNA Polymerase takes place. When RNA Polymerase II takes flace the transcription · on Factor , it forms a Transcription Initiation complex. The RNA the DNA to initiate Polymerase It unwinds · transcription. - - - - - - - Elongation · RNA Polymerase II moves along the DNA by untwisting and exposing approx. 20-30 nucleotide The adds nucleotide to the 3' end enzyme ·. · The chain feel away from the template strand The DNA double-helix. reforms · · Transcription occurs at a rate of 40 nucleotides for second.  Termination In Bacteria it happens through termination RNA sequence causing RNA Polymerase It - , a to , detach from the DNA and release transcription. This mRNA go to translation without being modified. > - RNA Polymerase in eukaryotics stops when it transcribes a sequence called the Kolydenylation signal (AAUAAA) in the pro-mRNA ↳ Poly-A Tail Once the sequence is transcribed , Proteins cut the Polyadenylation tail From RNA Polymerase · · Polymerase continues the transcription for another mRNA. > A 5 Cap is added in the form guanine (G) nucleotides - > - 3 Poly-A Tail i added by an enzyme spamming Adenine (A) nucleotides. Final Product of before RNA Processing Transcription. untranslated Regiona a polypeptide  #2. RNA Processing - Enzymes in the eukaryotic nucleus modify fore-mRNA ·. Alteration > - The S head and 3 Tail faciliate the transport of the mRNA by protecting it from degration by the ~ hydrolytic enzymes. & exonucleases - Job is to remove nucleotides They help ribosomes attach to the 5' end > -. - - - - - - - - - - - RNA splicing don't code for protein That a - > - is a process where junk DNA nucleotides are removed , these are called introns - & Expressed Regions Intervening sequence - - Fons are Protein coding nucleotides that are conserved. - - - - - - - ** DNA molecule in 27 000 , nucleotides long , the RNA needs 1200 nucleotide that code for 300 AA. Exons - = 27 , 000 - To 2580