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by: Cassie Koepp


Cassie Koepp
GPA 3.61

J. Siebenaller

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J. Siebenaller
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This 17 page Study Guide was uploaded by Cassie Koepp on Tuesday October 13, 2015. The Study Guide belongs to BIOL 1201 at Louisiana State University taught by J. Siebenaller in Fall. Since its upload, it has received 19 views. For similar materials see /class/222826/biol-1201-louisiana-state-university in Biological Sciences at Louisiana State University.

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Date Created: 10/13/15
EXAM 3 LEARNING OB ECTIVES CELL DIVISION 11 questions Centromeres Centromeres are a specialized region at which the two sister chromatids are attached There is one centromere per chromosome Kinetochores Kinetochores are a structure ofproteins and specific sections of chromosomal DNA at the centromere The kinetochore is the point of attachment for the microtubules of the spindle During prometaphase the microtubules ofa spindle invade the nuclear region and interact with the chromosomes Via the kinetochore Chromatids A chromosome consists oftwo sister chromatids that are identical copies ofthe DNA They are attached at a specialized region called the centromere Cell Cycle During the Cell Cycle the cell is in lnterphase about 90 ofthe time Then the cell goes through the Mitotic phase which consists of mitosis and cytokinesis separation ofcytoplasm Interphase Interphase is a part ofthe cell cycle in which the cell spends about 90 of its time There are three parts ofInterphaseG1Gap 1 S Phase and G2 Gap 2 During G1 there is an increase in the number oforganelles and a synthesis ofcell components During the S Phasethere is a synthesis or replication of DNA which doubles the genetic material During G2 the centrioles replicate in animal cells and the structure for cytokinesis is put in place Centrioles are found only in animals and they consist of9 sets oftriplet microtubules arranged in a ring They are found in the centrosome which is a region out ofwhich microtubules grow The centrioles help organize microtubule growth but centrioles aren39t necessary plants live without them Pumose ofthe Different Types of Cell Division The purpose of mitosis is to ensure that daughter cells have identical genetic complement of the mother cell These daughter cells have the Zn chromosome number diploid Meiosis is the fusion of gametes from parents to form a zygote This provides for a greater diversity of offspring than asexual reproduction Meiosis occurs in specialized tissues and produces cells with the 1n chromosome number haploid Mitosis Events in each hase hat are the number of chromatids DNA content number of chromosomes Mitosis consists of prophase prometaphase metaphase anaphase and telophase and develops daughter cells with a diploid chromosome number Zn The human diploid number is 46 and 2 of which are sex chromosomes Mitosis is asexual reproduction that results in identical offspring During Prophase the nucleoli disappear chromatin condenses become visible mitotic spindle forms from microtubules in cytoplasm and centrosomes move away from each other During Prometaphase the nuclear envelope fragments and microtubules of spindle invade the nuclear region and interact with the chromosomes via the kinetochore During Metaphase the centrosomes are at opposite poles and chromosomes are arranged at the mid plane of the spindle and the kinetochores of sister chromatids are attached to opposite poled During Anaphase the sister chromatids separate and move toward the poles During Telophase the nuclear envelope reforms the spindle breaks down the nucleoli reform and the chromatids become les densely coiled Cytokinesis is the division of the cytoplasm This mechanism differs between plant and animal cells because plants have a cell wall For animals a belt ofactin microfilaments forms a ring around the equator of the dividing cell Interacting with myosin the actin ring tightens forming the cleavage furrow and the two cells are then pinched apart In plants vesicles from Golgi form a cell plate at the equator of the dividing cell and then form a new cell wall Meiosis Events in each phase What are the number of chromatids DNA content number of chromosomes Meiosis is cell division for gamete production and it occurs in specialized tissues It produces cells with the 1n chromosome number Meiosis consists of two divisions Meiosis l separates homologous chromosomes and Meiosis ll separates sister chromatids Meiosis is sexual reproduction that fuses gametes from parents syngamy to produce a zygote Each parent contributes half the genetic material and there is an increase in the diversity of offspring because there can be different combinations of chromosomes The stages of Meiosis are Prophase l Metaphase l Anaphase l Telophase l Prophase ll Metaphase ll Anaphase II and Telophase 11 As in Mitosis there is also an lnterphase During S phase the DNA is replicates giving rise to chromosomes consisting of 2 sister chromatids During Prophase I there is spindle formation breakdown of nuclear envelope disappearance of nucleoli and condensation ofchromosomes Homologous chromosome pairs lie next to one another Crossing over of chromatids betweenpairs chiasma formation occurs Chiasma Formation can result in a physical exchange ofgenetic material between homologs so recombinant chromosomes result and increase gamete diversity During Metaphase I chromosome pairs align on equator of spindle and kinetochores ofsister chromatids are attached to fibers going to the same pole During Anaphase I Homologous pairs of chromosomes separate and the sister chromatids remain together During Telophase 1 depending on the species a nuclear membrane may reform or cytokinesis may occur Meiosis Ii is cell division like mitosis but it starts with the haploid chromosome complement The sister chromatids are separated Hnmnlnguus pair m chremomme In diploid payemcall Chramnsomes mum Homologous nair o venllcaled chvomasnmes Slslerf l I W momma Dlplmd ccllwllh epllnamd Amman Haplaid calls with vepllcalad hvnmnsumes V 0 5mm cnmmauus J sepnrue L omologous chromosamu scpnml i l m alz chrnmusumes an awnw h WwamIr h y quota mum m WELL r l MC I mm 1 mm 53 lt gt m mm To form gametes in human males there is spermatogenesis in diploid reproductive tissues The primary spermatocyte undergoes Meiosis I The secondary spermatocyte undergoes Meiosis II The resulting spermatids mature into spermatozoa In females at about 3 months old oogonia give rise to primary oocytes stopped in prophase until ovulation Polar body formation gives rise to a large egg Mitochondria are inherited from the mother Mendelian Segregation Gregor Mendel developed the Law ofSegregation This law stated that the 2 members ofa gene pair segregate from each other into the gametes Each gamete carries one member ofthe gene pair Mendelian segregation occurs during Anaphase I A30 and Rh BLOOD GROUPS 8 questions Know the Genetics Inheritance There are multiple possible alleles for blood type IA 13 i 10 the phenotypes are A B AB and 0 IA is codominant with IE and dominant to i or 10 IB is also dominant to 10 PHENOTYPE GENOTYPE A 1A1A or 1A1 B IBIB or lBi AB IAIB 0 ii What makes these groups different is a polysaccharide on the surface of the red blood cells called an antigen An antigen is a foreign molecule that elicits an immune response Antibodies are protective proteins targeted against foreign nonself materials by binding to an antigen Red Blood Cell antigens type A has the A antigen and the A polysaccharide etc Type O has no antigen that39s why it is recessive The Rh factor is an antigen on the surface of red blood cells D is dominant while d is recessive Genotype Phenotype DD or Dd Rh dd Rh39 lack the Rh antigen The Rh and ABC genes assort independently This means that they will be transmitted independently to the gametes and that they are on different chromosomes Be able to do Problems on Paternity exclusion Could a man39s ABO genotype have produced gametes which would result in the child39s phenotype A man of blood type A has phenotype A and an ambiguous genotype lAu Either IAIA or lAi homozygous or heterozygous are possibilities We have no way of knowing lfa man is blood type B we know that the genotype must be IAIB because the phenotype is AB lfa man is blood type 0 then the phenotype is O and the genotype is certainly ii With a child of blood type A you don39t know if the genotype is heterozygous or homozygous At least one parent must contribute an IA and the other parent may have contributed an 1A or an i If a child is blood type B one parent must have contributed an IA and one must have contributed an 13 A child with blood type 0 must have had parents who both contributed an i Now lets look at paternity exclusion regarding Rh genetics Could an Rh man be the father of an Rh child Yes because he could be heterozygous Dd Transfusions What are the appropriate donors for transfusions SEX LINKAGE 13 questions Inheritance of xlinked and vlinked traits I from lecture eg color Lquot hairv ear rims There is a difference between autosomal and sexlinked genes Sex linked genes are carried on the sex chromosomes only The sex linked traits or Xlinked traits are located on the X chromosome The alleles occur on one of the sex chromosomes In humans for the most part we are concerned with Xlinked chromosomes A mother determines whether a son displays an Xlinked trait For example colorblindness is due to a recessive allele on the X chromosome X linked Hairy pinnae ears are linked to the sex chromosome and are a Ylinked trait and they are always passed from father to son There are many more genes and traits associated with the chromosome than there are with the Y chromosome With Xlinked traits males are primarily affected because females can be heterozygous and mask the recessive traits Differences between X and Y chromosomes Sex Determination and Inheritance Barr Bodies Inactivated X Chromosomes Heterochromatin The father determines the sex of the child XX is a homogametic sex while XY is a heterogametic sex There must be dosage compensation because females have two X chromosomes while males only have one Therefore there is an inactivation of one X chromosome chosen at random This results in Barr Body which includes heterochromatin tightly coiled inactive DNA So the cells of women are mosaic for genes on the X chromosome Karyotypes A Karyotype is the visualization of the complete set of chromosomes It is a method of organizing and visualizing the chromosomes ofa cell size number and type Karyotypes are best viewed at metaphase of mitosis Calico and Tortoiseshell fur color patterns Calico and tortoiseshell cats are examples ofX chromosome inactivation MENDELIAN INHERITANCE 3 questions Generations P F1 and F2 The P Stage is the Parental stage with F1 stands for Filial One and F2 stands for Filial Two F1 is the generation that consists ofoffspring ofparental generation hybrids F2 is the generation that consists ofthe crosses between F1 hybrid individuals T9 t f d f39 39t39 and be able to perform testcrosses How do you know whether an individual is homozygous dominant orheterozygous You know the phenotype A but not the genotype A The genotype could be either AA or Aa To figure it out you cross the unknown individual with a homozygous recessive individual Testcross outcomes differ depending on whether you use a homozygous dominant unknown or a heterozygous one Ifyou use a homozygous dominant unknown all offspring will display the dominant trait Ifyou use a heterozygous unknown halfthe offspring display the dominant trait and halfthe offspring display the recessive trait nnminant 0 J inr nmnlete r lnminanr e A dominant allele is an allele that is fully expressed in the phenotype ofa heterozygote Only a single copy is required to express the trait A recessive allele in a heterozygous individual is the allele that is completely masked in phenotype Recessive alleles aren t expressed because they code for an inactive of defective enzyme Codominance occurs when heterozygous individuals express traits from both alleles lncomplete dominance is when heterozygous individuals are intermediate between the dominant and recessive traits For example there could be three phenotypes red ower white owerpink ower Phenotype Genotype Purple PF 1 homozygous Purple PP heterozygous 2 Purple PP heterozygous 01 1 homozygous Ratio 121 V Gameres39btul quot Sperm mj fw v2 1 W H 4 Eggs U 1 CWquot quotgiltquot 3 1 53 UL Dihvbrid Crosses f39 4 J assortment and linkagel Dihybrid crosses involve two genes that have an independent assortment or linkage This is Mendel39s Second Law Law ofIndependent Assortment Dihybrid crosses are linked genes They are physically located on the same chromosome and are linked The alleles linked on the chromosome will be transmitted into the same gamete There is a different expectation for the phenotypes of offspring Multiple genes contribute to a trait skineye color PEDIGREES 2 questions Identi T eoflnheritance Know the Characteristics ofTransmission ofDifferent T es of Traits Autosomal dominant autosomal recessive and seXlinked recessive Autosomal Recessives occur when the trait is not on a seX chromosome and it is recessive Generations are often skipped and there is almost always equal distribution among sexes If both parents are affected all children should be affected Autosomal Dominants occur for traits with dominant alleles on nonseX chromosomes Generations are not skipped There is almost equal distribution of the trait among males and females SeX linked or Xlinked recessives mostly affect males Affected males have carrier mothers These carrier mothers often have affected brothers fathers or maternal uncles Approximately half ofthese sons will be affected HUMAN GENETICS 11 questions Autosomal vs Sex Linked Autosomal traits occur on the nonsex chromosomes Sexlinked traits occur on sex chromosomes With Sexlinked traits as humans we mostly concern ourselves with x linked chromosomes Sickle Cell Sickle cell anemia is a homozygous recessive autosomal trait It is pleiotropic which means that there are multiple phenotypic effects due to a single allele The sickle cell trait occurs in individuals heterozygous for the allele They can also display exertional sickling which means they will have symptoms during intense exercise People with sickle cell anemia are homozygous for the allele and lose up to 10 oftheir RBC39s at a premature age daily Sickle cell anemia can be treated with blood transfusions and hydroxyurea therapy This activates the gene for fetal hemoglobin The sickle cell allele is maintained in populations especially Africa and the Mediterranean Sea area because those heterozygous for the allele are resistant to malaria Phenylketonuria PKU This is another problem caused by autosomal traits It occurs in those homozygous for the recessive allele It is a defect in metabolism ofthe amino acid phenylalanine It can be diagnosed by testing newborns As treatment you must keep phenylalanine out of the diet in order to avoid mental retardation Screening New Born Babies There are routing tests performed for 30 genetic diseases that are recommended by the federal government and the March ofDimes There are tests available for about 50 diseases Today every newborn is tested for PKU and hypothyroidism which can both cause mental retardation and some are tested for sickle cell disease Screening for rare metabolic disease saves money because it prevents hospitalization and longterm disability In Louisiana tests are given for 31 disorders and it only costs about 30 to have all ofthese done There is a new test available for immune deficiencies that will cost about 5 and it will save a lot of money for the future Chromosomal Abnormalities In plants chromosomal abnormalities can be tolerated For example wheat is a hexaploid 6n and bananas are triploid 3n Because of the uneven chromosome number bananas can only reproduce by mitosis therefore each banana plant is simply a clone ofthe others In animals and humans chromosome abnormalities are usually lethal because animals are sensitive to gene dosage Viable defects often involve the seX chromosomes because there is dosage compensation due to the X chromosome inactivation These abnormalities result from errors in meiosis called nondisjunction Pol loid eu loid This chromosome abnormality occurs when there are multiples of the complete haploid set of chromosomes Aneuploidy This chromosome abnormality occurs when there are changes in the number of chromosomes extra or missing It does not involve the complete chromosome set Down Syndrome Down syndrome occurs when a human has a trisomic chromosome 21 This means that there are three copies of chromosome 21 Mothers that are over 35 are much more likely to have a child with Down syndrome A translocation can result in the equivalent of trisomy in younger women Turner Females Turner females X0 are monosomic and they are missing an X They are the only known viable case of monosomy in humans because of the X chromosome inactivation They have 45 chromosomes instead of46 Kleinfelter Males Kleinfelter males XXY have multiple X chromosomes They often manifest feminine traits like hip and breast development even though their phenotype is male Their testes also remain in their abdomen rather than descending into the scrotum XYY The XYY occurs when there is a male with an eXtra Y chromosome Some call this the criminal chromosome These people are also usually a lot taller than the average man XXX This is just a female with an eXtra X These people are usually normal because ofX chromosome inactivation already occurs Maternal Inheritance Males inherit their X chromosomes and their mitochondria from their mothers This is called extrachromosomal inheritance DNA SYNTHESIS 7 questions Enzymes involved in DNA Replication Table 161 Protein Function Helicase Unwinds parental double helix at replication forks Single strand Binds to and stabilizes single stranded DNA binding until it can be used as a template protein Topoisomerase Relieves overwinding strain ahead of replica tion forks by breaking swiveling and rejoining DNA strands Primase Synthesizes an RNA primer at 5 end of leading strand and of each Okazaki fragment o agging strand DNA pol 11 Using parental DNA as a template synthesizes new DNA strand by covalently adding nu cleotides to the 3 end of a pre existing DNA strand or RNA primer DNA pol I Removes RNA nucleotides of primer from 5 end and replaces them with DNA nucleotides DNA ligase Joins 3 end of DNA that replaces primer to rest of leading strand and joins Okazaki fragments of lagging strand Cnnyngmrw 2m Pearsun Santanav in manean as Psamn acmmm Cummugs Leading and lagging strands Okazaki fragments Telomeres and telomerase Base airin New strand 39 d 5 Phosphage Base Templa e strand triphosphate 5 end H OH 3 9quot ltH 7 i on EC Pyrcphosphate 339 end 0 Nucleoside 2 i See the worksheet Molecular Genetics on Moodle


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