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1 Cell Division and Genetic Material

Geneticsstudy of how genetic information is passed from one generation to the next -understanding genetics begins with understanding cellular processes -cell theory was developed in the mid 1800s, it states that: all living organisms are composed of one or more cells cells are the smallest units of living organisms new cells come only from pre-existing ones through cell division -since all new cells are a product of pre-existing ones; the daughter cells follow the traits passed down from the parent cells -these traits are passed down through deoxyribonucleic acid (DNA) The Cell Cycle Somatic cellsa plant or animal cell found in the body of an organism -all cells reproduce through controlled growth and division in a process called the cell cycle -when one cell completes the cycle, it becomes two cells -specific checkpoints in the cell cycle monitor growth to ensure the cycle continues when it should and stops when it should -regulation is the key to prevent uncontrolled and rapid growth, such as cancerous growth -the duration of cell cycles can range, depending on the type of cell; can be from a few minutes to over a year Stages of the Cell Cycle Three main stages: 1. Interphaselongest stage of the cell cycle -consists of the G1 phase, the S phase and the G2 phase 2. Mitosis (division) 3. Cytokinesis (division of cytoplasm) Interphase -cells grow and make copies of its genetic information -divided into three parts: 1. G1 phaserapid growth and cell activity (major period of growth) 2. S phasegenetic information is being replicated 3. G2 phasecell prepares for division Mitosis -separates the cells replicated genetic material -it involves: -chromosomesstructure in nucleus that contains DNA -sister chromatidsone of two chromosomes that are genetically identical and are held together by centromere -centromerethe region where two sister chromatids are held in a chromosome -spindle fibrea microtubule structure that facilitates the movement of chromosomes within a cell -centrosomehelps form spindle fibres Cytokenisis -in animal cells, an indentation forms in the cell membrane along the equator. This indentation deepens as the cytoplasm divides equally and the cell pinches off into two sells. This is accomplished by means of microfilaments constricting. -in plant cells, the rigid cell wall does not pinch inward. Instead, a new structure called a cell plate forms between the daughter nuclei. A cell wall forms on each side of the cell plate. -prokaryotic cells complete cell division with binary fission since they lack a nucleus. DNA is pulled apart and the cell separates into two prokaryotic cells. asexual sexual one parent union of two nuclei (parent cells) no special reproductive cells/organs uses specialized cells (egg and sperm) new individual is a separated part from parent organism

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

4.2 Sexual Reproduction

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



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)

4.3 Reproductive Strategies and Technologies

-todays technologies allow us to genetically manipulate organisms with traits that we desire Reproductive Strategies in Agriculture -origins of genetics lie in the earliest practices of agriculture -traditional agriculture involves selective breeding, the process of breeding plants and animals for desirable traits -is often imprecise since it combines many genes (and traits) at a time -today, many reproductive technologies contribute to successful selective breeding -artificial insemination is the process where an artificial transfer of semen into a females reproductive tract occurs -allows animal breeders to choose desirable traits for the male parent -semen used for this process is usually collected and stored -semen from high-quality males with desirable traits are more widely available through breeders and online -embryo transfer is the process that involves fertilizing an egg artificially and then transferring it into a recipient female -embryos can be easily shipped, eliminating the need to physically ship an animal around -animals born and raised in their natural environment tend to thrive better than those that are imported Reproductive Technologies for Humans -there are many technologies available for females who are not able to conceive a child -these technologies and techniques are referred to as Assisted Reproductive Technologies (ART) -artificial insemination has also been used in humans -the sperm is collected and concentrated before being introduced into the womans vagina -in vitro fertilization (IVF) is a technique that offers a solution for women with blocked Fallopian tubes -immature eggs are retrieved from a woman -then, the eggs are fertilized with sperm in a laboratory -after fertilization, the embryo is placed in the uterus -babies conceived by this method are called test-tube babies since fertilization takes place in a laboratory setting Preimplantation Genetic Diagnosis -IVF is commonly used in cases where patients with a history of genetic disorders since they can diagnose whether the embryo will have a genetic disorder before it is implanted in the uterus -genetic testing done before the embryo is implanted is called preimplantation genetic diagnosis (PGD) -once IVF takes place, the zygotes divide over two days, then one cell is analyzed for a genetic disorder -parents of sick children use PGD to create a genetic match in another sibling -as a genetic match, the newborn sibling is able to donate the umbilical cord blood, which contains stem cells that are used to treat a number of diseases Cloning: Reproduction of Exact Copies -cloning is the process that produces identical copies of genes, cells or organisms -depending on whats being copied (a gene, cell or organism), the term cloning can mean different things Gene Cloning -involves manipulating DNA to produce multiple copies of a gene or another segment of DNA in foreign cells -cloned DNA can be used for mass production of the protein that the gene codes for, which has many commercial and medicinal applications -before gene cloning, pure insulin was used from animal sources to treat diabetes, which made it very expensive to produce -since the 1980s, human insulin has been produced in bacteria through cloning of the insulin gene

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