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Structure of Genetic Material -DNA is compromised of nucleotides, each of which is made up of a sugar (deoxyribose), a phosphate group and a base -there are four bases; Adenine (A), Guanine (G), Cytosine (C) and Thymine (T) -Adenine pairs with Thymine -Cytosine pairs with Guanine -these are called base pairs -genetic mutations occur when the order of the base pairs are changed (e.g if A is paired with G instead of T) DNA Replication -when DNA is replicated, the double helix unwinds and each strand of DNA serves as a template for a new strand -a genome is a complete DNA sequence of an organism -semi-conservative; each new double helix contains one original and one new strand (diagram to the right) Chromosomes -the number of chromosomes in an organism does not count for the complexity of the organism itself -humans have 2 sets of 23 chromosomesone set from the father, one from the mother -a gene is a part of a chromosome that governs the expression of a trait and is passed on to offspring -these sets are homologous; they contain the same sequence of genes (traits). They also have the same length, location of centromere and stain banding pattern -genes consist of many alleles, the sequence of nucleotides on a DNA molecule -one of the pairs of the human chromosomes is called the sex chromosome -they determine the gender of the individual XYmale XXfemale -they are not numbered since they are not homologous -the rest of the human chromosomes are called autosomes (chromosomes that do not determine sex) and each one has a homologous pair The Karyotype -a karyotype refers to a persons particular set of chromosomes -to prepare a karyotype, a cell sample is collected and is stopped during metaphase in mitosis. The sample is then stained, thus, revealing a banding pattern on the chromosomes. The chromosomes are then sorted and paired up, autosomes are labeled 1 through 22 and the sex chromosomes are labeled X or Y -the autosomes are sorted by the longest to shortest1 being the longest, 22 being the shortest
Asexual Reproduction refers to reproduction that only includes one parent. The offspring of is genetically identical to the parent. -most bacteria produce asexually Sexual Reproduction involves two parents and produces an offspring that is genetically distinct. Haploid and Diploid Cells in Sexual Reproduction -sexual reproduction involves the fusion of a male and female reproductive cell -gametes are reproductive cells -a cell formed by the fusion of gametes, is called the zygote -when gametes fuse, the resulting zygote has the same number of chromosomes as the somatic cell for the organism -gametes have half the number of chromosomes as the parent cells -haploids are cells that contain half the number of chromosomes as the parent cell (same as gamete) -a diploid is a cell that contains pairs of homologous chromosomes (same as zygote) haploid: n diploid: 2n -a human gamete is n=23 -a human diploid (zygote) is n=46 Meiosis -also known as reduction division -the cellular process that produces cells containing half the number of chromosomes as the parent cell -creates gametes (egg and sperm) Two outcomes: Genetic Reductionproduces daughter cells with half the number of chromosomes as the parent cell Genetic Recombinationproducts of meiosis have different combinations of alleles. This gives rise to genetically different offspring that show some similarity to the parents. Increases genetic variation Interphase -similar to interphase in the cell cycle -includes the replication of chromosomes -chromosomes are made up of identical sister chromatids that are held together at the centromere Phases of Meiosis -four distinct phasesprophase, metaphase, anaphase, and telophase -meiosis goes through these phases twice -known as meiosis I and meiosis II Meiosis I Prophase I -each pair of homologous chromosomes line up side to side -alignment is called synapsis -non-sister chromatids exchange genes -nuclear membrane disappears Metaphase I -homologous chromosomes line up at equator of cell -spindle fibres attach to centromere of each chromosome Anaphase I -homologous chromosomes separate and move to opposite poles of the cell -chromosome number is reduced from 2n to n -the centromeres do not split since the sister chromatids are still held together Telophase I -homologous chromosomes begin to unfoil -spindle fibres disappear -cytokinesis takes place, nuclear membrane forms around each group of homologous chromosomes -each of these new cells is now a haploid Meiosis II -similar to mitosis -cell is a haploid instead of a diploid metaphase II: -haploid number of chromosomes line at the equator of the cell anaphase II: -sister chromatids are pulled apart at the centromere by the spindle fibres
telophase II: -nuclear membrane and nuclei reform, creates 4 haploid cells A Comparison between Mitosis and Meiosis -mitosis consists of only one set of division phases -produces two diploid daughter cells that are identical -meiosis has two sets of division -produces four haploid daughter cells that are not identical
MITOSIS
MEIOSIS
Gamete Formation in Animals -haploid gametes in humans are the egg and sperm -process of sperm production is called spermatogenesis (mitosis then meiosis) -the process of egg production is called oogenesis (mitosis before birth, meiosis when puberty starts for once a month) -both processes involve meiosis Spermatogenesis -in most males, meiosis takes place in the testes -process starts with a diploid cell called a spermatogonium -the spermatogonia reproduce by mitosis and the resulting cells undergo meiosis to form four haploid cells -following meiosis II, the cells undergo a final set of developmental stages and develop into mature sperm -nucleus and certain molecules are organized into a head region -midsection holds the mitochondria (energy resource for cell) -long, tail-like flagellum develops for locomotion
Oogenesis -in most females, meiosis takes place in the ovaries -starts with a diploid cell called an oogonium -before birth, the oogonia reproduce by mitosis and begin meiosis but stop at prophase I -meiosis I will begin again for one cell a month at the beginning of puberty -involves an unequal division of cytoplasm, cell that receives more cytoplasm continues to meiosis I and II to form an egg -the cell contains a large quantity of nutrients that will support the zygote after fertilization -the smaller cell, polar body, will degenerate -final stages of meiosis II are not completed unless fertilization by a sperm occurs -when meiosis II is complete, a mature egg and another polar body are produced -the haploid egg fuses with the haploid sperm to create a diploid zygote
Importance of Meiosis for Genetic Variation -the outcome of meiosis is the formation of genetically distinct haploid gametes -during meiosis, genetic variation is ensured in two ways: by the creation of gametes that carry different combinations of maternal and paternal chromosomes (independent assortment) by the exchange of genetic material between maternal and paternal chromosomes (crossing over) Independent Assortment -gametes are created that carry different combinations of maternal and paternal chromosomes -occurs during metaphase I, when each homologous chromosome is randomly oriented towards one of the poles -this can produce millions of different combinations Crossing Over -genetic material between maternal and paternal chromosomes is exchanged -occurs during prophase I -non-sister chromatids exchange genetic material Errors during Meiosis -two types of chromosomal errors that can occur during meiosis: changes in the chromosome structure and changes to chromosome number Errors Caused by Changes in Chromosome Number -during crossing over, chemical bonds that hold DNA together are broken and reformed -sometimes chromosomes do not reform correctly -errors include: deletionpiece of chromosome is deleted (Cri Du Chat) duplicationa section of a chromosome spears two or more times in a row (Charcot-Marie-Tooth disease) inversiona section of a chromosome is inverted (FG Syndrome) a segment becomes attached to a different chromosome (Chronic Myelogenous Leukemia) Errors Caused by Changes in Chromosome Structure -sometimes homologous pairs or sister chromatids do not separate as they should in meiosis -this is called a non-disjunctioncan occur either in anaphase I or II -in anaphase I, the homologous pairs do not separate -in anaphase II, the sister chromatids do not separate -a monosomy is the loss of a chromosome as a result of non-disjunction (one) -a trisomy is the gain of an extra chromosome as a result of non-disjunction (three)
The process of gene cloning: 1. The DNA segment mean to be cloned is isolated. A vector (carriers of DNA into foreign cells), usually plasmids (circular pieces of DNA that remain distinct from the bacterial chromosome) is chosen. 2. The chromosomal DNA is inserted into the vector. Reagents are used to cut DNA and aid different pieces to join together. The product is a recombinant DNA, a molecule of DNA that contains genetic materials from different sources 3. Bacteria cells have to be treated so they can take in the DNA. The process of taking up the recombinant DNA is called transformation. Once it is taken, many copies of the DNA will be made by the host cell. Therapeutic Cloning and Reproductive Cloning -therapeutic cloning involves producing genetically identical cells that are used to treat various diseases -includes using cloned cells to grow tissues and organs -reproductive cloning also involves the production of cell clones, but with the aim of producing a genetically identical organism -use a process called somatic cell nuclear transfer (SCNT) to generate the cloned cell -in this technique, the nucleus of an egg cell is taken and replaced with a nucleus of a somatic cell of a donor -both are very controversial since there are many ethical questions concerning how they are used Reproductive Cloning in Animals -reproductive cloning in animals is not very successful, rates are from 0.5 to 6 percent -also, cloned offspring usually have a high mortality rate, as well as high incidences of disease and premature aging -aim of animal cloning is to repopulate an endangered species Therapeutic Cloning and Stem Cells -stem cells are unspecialized cells that can develop into any one of the somatic cells, in the right conditions -embryos are the main source of stem cells, and this causes a lot of controversy Other sources of stem cells include: embryonic stem cells: obtained from embryos adult stem cells: somatic cells that retained their ability to differentiate into other cell types induced pluripotent stem cells: specialized adult stem cells that have returned to a stem cell-like state -the focus of stem cell research is learning how to program stem cells to become a certain cell type -scientists have succeeded in growing blood vessels, heart valves, skin, and a urinary bladder in the lab -stem cell research holds great promises for regenerative medicine -since stem cells are formed from a patients own somatic cells, they are unlikely to be rejected by the immune system Transgenic Organisms -inserting foreign DNA into plants and animals to produce transgenic organisms is a common practice -these organisms genetic material includes DNA from a different species -they are also known as genetically modified organisms (GMOs) -many plants have been modified to increase their resistance to herbicides, pests and viruses -transgenic plants can also be used for medical purposes -many animals such as mice, fruit flies and roundworms are used to study diseases and develop ways to treat them -transgenic animals may also be able to serve as organ donors for humans -this has very limited success due to tissue rejection -also, the issue of transferring diseases from animals to humans arises Many risks come with the use of transgenic organisms, including: environmental threats: use of stronger herbicides, the creation of superweeds and superbugs health effects: the long-term effect of consuming transgenic products is unknown social/economic issues: the amount of money spent on research would be greater than the benefit, the ethics of using other species solely for human benefit