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5. Cellular Reproduction and Genetics

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5. Cellular Reproduction and Genetics BJ: Chapter 5 The Continuity of Life Part 1: Advanced Genetics pp 153 - 179 AP: Module #7: Mendelian Genetics pp 196 - 226 – PowerPoint PPT presentation

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Title: 5. Cellular Reproduction and Genetics


1
5. Cellular Reproduction and Genetics
  • BJ Chapter 5 The Continuity of Life Part 1
    Advanced Genetics pp 153 - 179
  • AP Module 7 Mendelian Genetics pp 196 - 226
  • Reading Assignments
  • Homework Assignment
  • Lecture Topics

2
5. Genetics BJ2 p 11
  • Mechanism of Heredity BJ2 p112
  • Genetics The study of heredity. Genetics (from
    Ancient Greek ?e?et???? genetikos, genitive and
    that from ???es?? genesis, origin), a
    discipline of biology, is the science of heredity
    and variation in living organisms. The fact that
    living things inherit traits from their parents
    has been used since prehistoric times to improve
    crop plants and animals through selective
    breeding. However, the modern science of
    genetics, which seeks to understand the process
    of inheritance, only began with the work of
    Gregor Mendel in the mid-nineteenth
    century.Although he did not know the physical
    basis for heredity, Mendel observed that
    organisms inherit traits via discrete units of
    inheritance, which are now called genes.
  • The oldest a science Leviticus 1919Selective
    Breeding.
  • Aristotle proposed the Particulate Theory theory
    that parts of the male and female join to
    reproduce.
  • Preformationists I. The belief that there were
    tiny completely formed organisms in sperm that
    just grew up when planted in an egg.
  • Gregor Mendel Performed experiments with garden
    peas, stated modern genetics.
  • Proposed that there were pairs of factors in
    organisms and one of each pair goes to the
    offspring

3
Genes
  • Genes correspond to regions within DNA, a
    molecule composed of a chain of four different
    types of nucleotidesthe sequence of these
    nucleotides is the genetic information organisms
    inherit. DNA naturally occurs in a double
    stranded form, with nucleotides on each strand
    complementary to each other. Each strand can act
    as a template for creating a new partner
    strandthis is the physical method for making
    copies of genes that can be inherited.
  • Genes are the section of DNA that produces a
    polypeptide chain of amino acids and causes
    trait.The DNA of one cell is roughly equal to
    1,000 600 page books.

4
Gene
5
Chromosomes
  • Chromosomes Proteins that protect the strands of
    DNA and help in replication or transcription of
    RNA. They appear as a fuzzy tangled mass in the
    nucleus called Chromatin material. Different
    species have different numbers of chromosomes. A
    chromosome is an organized structure of DNA and
    protein that is found in cells. It is a single
    piece of coiled DNA containing many genes,
    regulatory elements and other nucleotide
    sequences. Chromosomes also contain DNA-bound
    proteins, which serve to package the DNA and
    control its functions. The word chromosome comes
    from the Greek ???µa (chroma, color) and s?µa
    (soma, body) due to their property of being very
    strongly stained by particular dyes. Chromosomes
    vary widely between different organisms. The DNA
    molecule may be circular or linear, and can be
    composed of 10,000 to 1,000,000,000 nucleotides
    in a long chain. Typically eukaryotic cells
    (cells with nuclei) have large linear chromosomes
    and prokaryotic cells (cells without defined
    nuclei) have smaller circular chromosomes,
    although there are many exceptions to this rule.
    Furthermore, cells may contain more than one type
    of chromosome for example, mitochondria in most
    eukaryotes and chloroplasts in plants have their
    own small chromosomes.

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Relationship between chromosomes DNA and genes
  • Genes are relatively small sections of DNA which
    encode (provide a template for) proteins.
  • Chromosomes are molecules that consist of a very
    long strand of DNA coiled many times, and a few
    proteins called histones which hold the whole
    structure together.
  • To put things very simply, chromosomes are made
    up of genes and genes are made of DNA.
  • One could use the analogy genes-words,
    chromosomes-books, genome-collective volume

9
Chromosome Number
  • There is a precise number of chromosomes typical
    for a given species. In any given asexually
    reproducing species, the chromosome number is
    always the same. In sexually reproducing
    organisms, the number of chromosomes in the body
    (somatic) cells is diploid (2n a pair of each
    chromosome), twice the haploid (1n) number found
    in the sex cells, or gametes. The haploid number
    is produced during meiosis. An organism with any
    multiple of the diploid number of chromosomes is
    said to be polyploid.
  • Homologous chromosomes are chromosomes in a
    biological cell that pair (synapse) during
    meiosis. The pair are non-identical chromosomes
    that both contain information for the same
    biological features and contain the same genes at
    the same loci but possibly each have different
    alleles (that is, different genetic information)
    at those genes. For example, the two chromosomes
    may have genes encoding eye color, but one may
    code for brown eyes, the other for green.
  • Non-homologous chromosomes representing all the
    biological features of an organism form a set,
    and the number of sets in a cell is called
    ploidy. In diploid organisms (most plants and
    animals), each member of a pair of homologous
    chromosomes is inherited from a different parent.
    But polyploid organisms have more than two
    homologous chromosomes.
  • Homologous chromosomes are similar in length,
    except for sex chromosomes in several taxa, where
    the X chromosome is considerably larger than the
    Y chromosome. These chromosomes share only small
    regions of homology.
  • Humans have 22 pairs of homologous non-sex
    chromosomes (called autosomes). Each member of a
    pair is inherited from one of their two parents.
    In addition, female humans have a homologous pair
    of sex chromosomes (2 X's) males have an X and a
    Y chromosome.
  • Homologous chromosomes are two pairs of sister
    chromatids that have gone through the process of
    crossing over and meiosis. In this process the
    homologous chromosomes cross over (not the sister
    chromatids)each other and exchange genetic
    information. This causes each final cell of
    meiosis to have genetic information from both
    parents, a mechanism for genetic variation. The
    homologous chromosomes are similar in length.

10
Mitosis
  • When a cell divides into two identical cells.
    Mitosis is the process in which a eukaryotic cell
    separates the chromosomes in its cell nucleus
    into two identical sets in two daughter nuclei.
    It is generally followed immediately by
    cytokinesis, which divides the nuclei, cytoplasm,
    organelles and cell membrane into two daughter
    cells containing roughly equal shares of these
    cellular components. Mitosis and cytokinesis
    together define the mitotic (M) phase of the cell
    cycle - the division of the mother cell into two
    daughter cells, genetically identical to each
    other and to their parent cell. Mitosis divides
    the chromosomes in a cell nucleus.

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Mitosis
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Phases of Mitosis
  • Interphase The time between cell divisions.The
    mitotic phase is a relatively short period of the
    cell cycle. It alternates with the much longer
    interphase, where the cell prepares itself for
    cell division. Interphase is therefore not part
    of mitosis. Interphase is divided into three
    phases, G1 (first gap), S (synthesis), and G2
    (second gap). During all three phases, the cell
    grows by producing proteins and cytoplasmic
    organelles. However, chromosomes are replicated
    only during the S phase. Thus, a cell grows (G1),
    continues to grow as it duplicates its
    chromosomes (S), grows more and prepares for
    mitosis (G2), and finally divides (M) before
    restarting the cycle..
  • A centromere is a region of DNA typically found
    near the middle of a chromosome where two
    identical sister chromatids come in contact. It
    is involved in cell division as the point of
    mitotic spindle.
  • Sister chromatids are identical copies of a
    chromosome connected by a centromere. Compare
    sister chromatids to homologous chromosomes,
    which are the two different copies of the same
    chromosome that diploid organisms (like humans)
    inherit, one from each parent. In other words,
    sister chromatids contain the same genes and same
    alleles, and homologous chromosomes contain the
    same genes but two copies of alleles, each of
    which might or might not be the same as each
    other. A full set of sister chromatids is created
    during the S subphase of interphase, when all the
    DNA in a cell is replicated. Identical chromosome
    pairs are separated into two different cells
    during mitosis, or cellular division. There is
    evidence that, in some species, sister chromatids
    are the preferred template for DNA repair. They
    are very strong, found within the cell during
    meiosis.
  • Mother cell cell ready for mitosis.

14
Preprophase
  • Preprophase In plant cells only, prophase is
    preceded by a pre-prophase stage. In highly
    vacuolated plant cells, the nucleus has to
    migrate into the center of the cell before
    mitosis can begin. This is achieved through the
    formation of a phragmosome, a transverse sheet of
    cytoplasm that bisects the cell along the future
    plane of cell division. In addition to
    phragmosome formation, preprophase is
    characterized by the formation of a ring of
    microtubules and actin filaments (called
    preprophase band) underneath the plasma membrane
    around the equatorial plane of the future mitotic
    spindle. This band marks the position where the
    cell will eventually divide. The cells of higher
    plants (such as the flowering plants) lack
    centrioles with microtubules forming a spindle
    on the surface of the nucleus and then being
    organized into a spindle by the chromosomes
    themselves, after the nuclear membrane breaks
    down. The preprophase band disappears during
    nuclear envelope disassembly and spindle
    formation in prometaphase.

15
Prophase
  • Normally, the genetic material in the nucleus is
    in a loosely bundled coil called chromatin. At
    the onset of prophase, chromatin condenses
    together into a highly ordered structure called a
    chromosome. Since the genetic material has
    already been duplicated earlier in S phase, the
    replicated chromosomes have two sister
    chromatids, bound together at the centromere by
    the cohesion complex. Chromosomes are visible at
    high magnification through a light microscope.
  • Close to the nucleus are structures called
    centrosomes, which are made of a pair of
    centrioles. The centrosome is the coordinating
    center for the cell's microtubules. A cell
    inherits a single centrosome at cell division,
    which replicates before a new mitosis begins,
    giving a pair of centrosomes. The two centrosomes
    nucleate microtubules (which may be thought of as
    cellular ropes or poles) to form the spindle by
    polymerizing soluble tubulin. Molecular motor
    proteins then push the centrosomes along these
    microtubules to opposite side of the cell.
    Although centrosomes help organize microtubule
    assembly, they are not essential for the
    formation of the spindle, since they are absent
    from plants, and centrosomes are not always used
    in meiosis.

16
Prometaphase
  • The nuclear envelope disassembles and
    microtubules invade the nuclear space. This is
    called open mitosis, and it occurs in most
    multicellular organisms. Fungi and some protists,
    such as algae or trichomonads, undergo a
    variation called closed mitosis where the spindle
    forms inside the nucleus or its microtubules are
    able to penetrate an intact nuclear envelope.
    Each chromosome forms two kinetochores at the
    centromere, one attached at each chromatid. A
    kinetochore is a complex protein structure that
    is analogous to a ring for the microtubule hook
    it is the point where microtubules attach
    themselves to the chromosome.Although the
    kinetochore structure and function are not fully
    understood, it is known that it contains some
    form of molecular motor. When a microtubule
    connects with the kinetochore, the motor
    activates, using energy from ATP to "crawl" up
    the tube toward the originating centrosome. This
    motor activity, coupled with polymerisation and
    depolymerisation of microtubules, provides the
    pulling force necessary to later separate the
    chromosome's two chromatids. When the spindle
    grows to sufficient length, kinetochore
    microtubules begin searching for kinetochores to
    attach to. A number of nonkinetochore
    microtubules find and interact with corresponding
    nonkinetochore microtubules from the opposite
    centrosome to form the mitotic spindle.
    Prometaphase is sometimes considered part of
    prophase.

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Metaphase
  • A cell in late metaphase. All chromosomes (blue)
    but one have arrived at the metaphase plate. As
    microtubules find and attach to kinetochores in
    prometaphase, the centromeres of the chromosomes
    convene along the metaphase plate or equatorial
    plane, an imaginary line that is equidistant from
    the two centrosome poles.15 This even alignment
    is due to the counterbalance of the pulling
    powers generated by the opposing kinetochores,
    analogous to a tug-of-war between people of equal
    strength. In certain types of cells, chromosomes
    do not line up at the metaphase plate and instead
    move back and forth between the poles randomly,
    only roughly lining up along the midline.
    Metaphase comes from the Greek µeta meaning
    "after." Because proper chromosome separation
    requires that every kinetochore be attached to a
    bundle of microtubules (spindle fibres), it is
    thought that unattached kinetochores generate a
    signal to prevent premature progression to
    anaphase without all chromosomes being aligned.
    The signal creates the mitotic spindle checkpoint.

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Anaphase
  • When every kinetochore is attached to a cluster
    of microtubules and the chromosomes have lined up
    along the metaphase plate, the cell proceeds to
    anaphase (from the Greek a?a meaning up,
    against, back, or re-). Two events then
    occur First, the proteins that bind sister
    chromatids together are cleaved, allowing them to
    separate. These sister chromatids, which have now
    become distinct sister chromosomes, are pulled
    apart by shortening kinetochore microtubules and
    move toward the respective centrosomes to which
    they are attached. Next, the nonkinetochore
    microtubules elongate, pushing the centrosomes
    (and the set of chromosomes to which they are
    attached) apart to opposite ends of the cell. The
    force that causes the centrosomes to move towards
    the ends of the cell is still unknown, although
    there is a theory that suggests that the rapid
    assembly and breakdown of microtubules may cause
    this movement.
  • These two stages are sometimes called early and
    late anaphase. Early anaphase is usually defined
    as the separation of the sister chromatids, while
    late anaphase is the elongation of the
    microtubules and the microtubules being pulled
    farther apart. At the end of anaphase, the cell
    has succeeded in separating identical copies of
    the genetic material into two distinct
    populations.
  • Daughter Chromosome Chromosome resulting from
    the separation of sister chromatids.

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Telophase
  • (from the Greek te??? meaning "end") is a
    reversal of prophase and prometaphase events. It
    "cleans up" the after effects of mitosis. At
    telophase, the nonkinetochore microtubules
    continue to lengthen, elongating the cell even
    more. Corresponding sister chromosomes attach at
    opposite ends of the cell. A new nuclear
    envelope, using fragments of the parent cell's
    nuclear membrane, forms around each set of
    separated sister chromosomes. Both sets of
    chromosomes, now surrounded by new nuclei, unfold
    back into chromatin. Mitosis is complete, but
    cell division is not yet complete.

20
Cytokinesis
  • is often mistakenly thought to be the final part
    of telophase however, cytokinesis is a separate
    process that begins at the same time as
    telophase. Cytokinesis is technically not even a
    phase of mitosis, but rather a separate process,
    necessary for completing cell division. In animal
    cells, a cleavage furrow (pinch) containing a
    contractile ring develops where the metaphase
    plate used to be, pinching off the separated
    nuclei. In both animal and plant cells, cell
    division is also driven by vesicles derived from
    the Golgi apparatus, which move along
    microtubules to the middle of the cell. In plants
    this structure coalesces into a cell plate at the
    center of the phragmoplast and develops into a
    cell wall, separating the two nuclei. The
    phragmoplast is a microtubule structure typical
    for higher plants, whereas some green algae use a
    phycoplast microtubule array during cytokinesis.
    Each daughter cell has a complete copy of the
    genome of its parent cell. The end of cytokinesis
    marks the end of the M-phase.
  • Daughter cellsThe cells that result from the
    reproductive division of one cell during mitosis
    or meiosis.

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Variation on Mitosis See Figure 5A3 BJ2 page 115
  • Animal cell invaginate plant cells do not.
  • Invagination means to fold or pinch-in inward or
    to sheath.
  • Plant cells form division plat.
  • Some unicellular organism- all phases occur
    within the nuclear membrane.
  • Variation in time form 10 min to 3 hours
  • Continuous - such as skin
  • Limited - divides for a certain period of time
    then stops - such as nerve cells

22
Meiosis
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Plant Meiosis
25
Uses of Mitosis
  • Growth, repair and replacemen of cells in
    multicell organisms
  • Asexual reproduction
  • Fragmentation
  • Budding
  • Spore

26
Clone and Cloning
  • Cloning in biology is the process of producing
    populations of genetically-identical individuals
    that occurs in nature when organisms such as
    bacteria, insects or plants reproduce asexually.
    Organism cloning refers to the procedure of
    creating a new multicellular organism,
    genetically identical to another. Cloning in
    biotechnology refers to processes used to create
    copies of DNA fragments (molecular cloning),
    cells (cell cloning), or organisms.
  • Natural Clones Identical twins are natural
    clones. Organism cloning is an natural an asexual
    method of reproduction, where fertilization or
    inter-gamete contact does not take place. Asexual
    reproduction is a naturally occurring phenomenon
    in many species, including most plants and some
    insects.
  • Artificial Clones Artificial cloning is
    controversial subject. Artificial clones for
    simple organisms such as sponges and jelly fish
    from embryo cells starting in 1894. Some simple s
    but adult mammals weren't cloned until 1996. Farm
    animals have been cloned by the hundreds
    recently, and companies want to use them in food
    production. Mammal cloning milestones
  • 1996 Dolly the sheep (made public in 1997)
  • 1998 Mice, cattle
  • 1999 Goats
  • 2000 Pigs cloned using mice, clones of clones
    are produced
  • 2002 Rabbits, cats
  • 2003 Horses, rats
  • 2005 Dog
  • Human Clones Natural human clones exist as
    identical twins. In 2004 adult human cells were
    cloned to create embryos, which are destroyed to
    extract cells for research. This is very
    controversial as many Christians view that every
    embryo is fully human.

27
Meiosis
  • (See figure 5A-7 Meiosis in Animal Cells)
  • In biology, meiosis (pronounced /ma?'o?s?s/) is a
    process of reductional division in which the
    number of chromosomes per cell is halved. In
    animals, meiosis always results in the formation
    of gametes, while in other organisms it can give
    rise to spores. As with mitosis, before meiosis
    begins, the DNA in the original cell is
    replicated during S-phase of the cell cycle. Two
    cell divisions separate the replicated
    chromosomes into four haploid gametes or spores.

28
  • Meiosis is essential for sexual reproduction and
    therefore occurs in all eukaryotes (including
    single-celled organisms) that reproduce sexually.
    A few eukaryotes, notably the Bdelloid rotifers,
    have lost the ability to carry out meiosis and
    have acquired the ability to reproduce by
    parthenogenesis. Meiosis does not occur in
    archaea or bacteria, which reproduce via asexual
    processes such as binary fission.
  • During meiosis, the genome of a diploid germ
    cell, which is composed of long segments of DNA
    packaged into chromosomes, undergoes DNA
    replication followed by two rounds of division,
    resulting in four haploid cells. Each of these
    cells contain one complete set of chromosomes, or
    half of the genetic content of the original cell.
    If meiosis produces gametes, these cells must
    fuse during fertilization to create a new diploid
    cell, or zygote before any new growth can occur.
    Thus, the division mechanism of meiosis is a
    reciprocal process to the joining of two genomes
    that occurs at fertilization. Because the
    chromosomes of each parent undergo homologous
    recombination during meiosis, each gamete, and
    thus each zygote, will have a unique genetic
    blueprint encoded in its DNA. Together, meiosis
    and fertilization constitute sexuality in the
    eukaryotes, and generate genetically distinct
    individuals in populations.

29
  • In all plants, and in many protists, meiosis
    results in the formation of haploid cells that
    can divide vegetatively without undergoing
    fertilization, referred to as spores. In these
    groups, gametes are produced by mitosis.
  • Meiosis uses many of the same biochemical
    mechanisms employed during mitosis to accomplish
    the redistribution of chromosomes. There are
    several features unique to meiosis, most
    importantly the pairing and recombination between
    homologous chromosomes.
  • Meiosis comes from the root -meio, meaning less.

30
  • Because meiosis is a "one-way" process, it cannot
    be said to engage in a cell cycle as mitosis
    does. However, the preparatory steps that lead up
    to meiosis are identical in pattern and name to
    the interphase of the mitotic cell cycle.

31
  • Interphase is divided into three phases
  • Growth 1 (G1) phase This is a very active
    period, where the cell synthesizes its vast array
    of proteins, including the enzymes and structural
    proteins it will need for growth. In G1 stage
    each of the chromosomes consists of a single
    (very long) molecule of DNA. In humans, at this
    point cells are 46 chromosomes, 2N, identical to
    somatic cells.
  • Synthesis (S) phase The genetic material is
    replicated each of its chromosomes duplicates,
    producing 46 chromosomes each made up of two
    sister chromatids. The cell is still considered
    diploid because it still contains the same number
    of centromeres. The identical sister chromatids
    have not yet condensed into the densely packaged
    chromosomes visible with the light microscope.
    This will take place during prophase I in
    meiosis.
  • Growth 2 (G2) phase G2 phase is absent in
    Meiosis

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  • Interphase is followed by meiosis I and then
    meiosis II. Meiosis I consists of separating the
    pairs of homologous chromosome, each made up of
    two sister chromatids, into two cells. One entire
    haploid content of chromosomes is contained in
    each of the resulting daughter cells the first
    meiotic division therefore reduces the ploidy of
    the original cell by a factor of 2.

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  • Meiosis II consists of decoupling each
    chromosome's sister strands (chromatids), and
    segregating the individual chromatids into
    haploid daughter cells. The two cells resulting
    from meiosis I divide during meiosis II, creating
    4 haploid daughter cells. Meiosis I and II are
    each divided into prophase, metaphase, anaphase,
    and telophase stages, similar in purpose to their
    analogous subphases in the mitotic cell cycle.
    Therefore, meiosis includes the stages of meiosis
    I (prophase I, metaphase I, anaphase I, telophase
    I), and meiosis II (prophase II, metaphase II,
    anaphase II, telophase II).
  • Meiosis generates genetic diversity in two ways
    (1) independent alignment and subsequent
    separation of homologous chromosome pairs during
    the first meiotic division allows a random and
    independent selection of each chromosome
    segregates into each gamete and (2) physical
    exchange of homologous chromosomal regions by
    recombination during prophase I results in new
    combinations of DNA within chromosomes.
  • A diagram of the meiotic phases

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Meiosis-phases Meiosis I
  • Meiosis I separates homologous chromosomes,
    producing two haploid cells (23 chromosomes, N in
    humans), so meiosis I is referred to as a
    reductional division. A regular diploid human
    cell contains 46 chromosomes and is considered 2N
    because it contains 23 pairs of homologous
    chromosomes. However, after meiosis I, although
    the cell contains 46 chromatids it is only
    considered as being N, with 23 chromosomes,
    because later in anaphase I the sister chromatids
    will remain together as the spindle pulls the
    pair toward the pole of the new cell. In meiosis
    II, an equational division similar to mitosis
    will occur whereby the sister chromatids are
    finally split, creating a total of 4 haploid
    cells (23 chromosomes, N) per daughter cell from
    the first division.

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Prophase I
  • During prophase I, DNA is exchanged between
    homologous chromosomes in a process called
    homologous recombination. This often results in
    chromosomal crossover. The new combinations of
    DNA created during crossover are a significant
    source of genetic variation, and may result in
    beneficial new combinations of alleles. The
    paired and replicated chromosomes are called
    bivalents or tetrads, which have two chromosomes
    and four chromatids, with one chromosome coming
    from each parent. At this stage, non-sister
    chromatids may cross-over at points called
    chiasmata (plural singular chiasma).

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Leptotene
  • The first stage of prophase I is the leptotene
    stage, also known as leptonema, from Greek words
    meaning "thin threads".1 During this stage,
    individual chromosomes begin to condense into
    long strands within the nucleus. However the two
    sister chromatids are still so tightly bound that
    they are indistinguishable from one another.

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Zygotene
  • The zygotene stage, also known as zygonema, from
    Greek words meaning "paired threads",1 occurs
    as the chromosomes approximately line up with
    each other into homologous chromosomes. This is
    called the bouquet stage because of the way the
    telomeres cluster at one end of the nucleus.

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Pachytene
  • The pachytene stage, also known as pachynema,
    from Greek words meaning "thick threads",1
    contains the following chromosomal crossover.
    Nonsister chromatids of homologous chromosomes
    randomly exchange segments of genetic information
    over regions of homology. (Sex chromosomes,
    however, are not wholly identical, and only
    exchange information over a small region of
    homology.) Exchange takes place at sites where
    recombination nodules (the aforementioned
    chiasmata) have formed. The exchange of
    information between the non-sister chromatids
    results in a recombination of information each
    chromosome has the complete set of information it
    had before, and there are no gaps formed as a
    result of the process. Because the chromosomes
    cannot be distinguished in the synaptonemal
    complex, the actual act of crossing over is not
    perceivable through the microscope.

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Diplotene
  • During the diplotene stage, also known as
    diplonema, from Greek words meaning "two
    threads", the synaptonemal complex degrades and
    homologous chromosomes separate from one another
    a little. The chromosomes themselves uncoil a
    bit, allowing some transcription of DNA. However,
    the homologous chromosomes of each bivalent
    remain tightly bound at chiasmata, the regions
    where crossing-over occurred. The chiasmata
    remain on the chromosomes until they are severed
    in Anaphase I.
  • In human fetal oogenesis all developing oocytes
    develop to this stage and stop before birth. This
    suspended state is referred to as the dictyotene
    stage and remains so until puberty. In males,
    only spermatogonia(Spermatogenesis) exist until
    meiosis begins at puberty.
  • (See Figure 5A-8 BJ2 p 122for diagram of
    Spermatogenesis.)

40
Diakinesis
  • Chromosomes condense further during the
    diakinesis stage, from Greek words meaning
    "moving through". This is the first point in
    meiosis where the four parts of the tetrads are
    actually visible. Sites of crossing over entangle
    together, effectively overlapping, making
    chiasmata clearly visible. Other than this
    observation, the rest of the stage closely
    resembles prometaphase of mitosis the nucleoli
    disappear, the nuclear membrane disintegrates
    into vesicles, and the meiotic spindle begins to
    form.

41
Synchronous processes
  • During these stages, two centrosomes, containing
    a pair of centrioles in animal cells, migrate to
    the two poles of the cell. These centrosomes,
    which were duplicated during S-phase, function as
    microtubule organizing centers nucleating
    microtubules, which are essentially cellular
    ropes and poles. The microtubules invade the
    nuclear region after the nuclear envelope
    disintegrates, attaching to the chromosomes at
    the kinetochore. The kinetochore functions as a
    motor, pulling the chromosome along the attached
    microtubule toward the originating centriole,
    like a train on a track. There are four
    kinetochores on each tetrad, but the pair of
    kinetochores on each sister chromatid fuses and
    functions as a unit during meiosis I.
  • Microtubules that attach to the kinetochores are
    known as kinetochore microtubules. Other
    microtubules will interact with microtubules from
    the opposite centriole these are called
    nonkinetochore microtubules or polar
    microtubules. A third type of microtubules, the
    aster microtubules, radiates from the centrosome
    into the cytoplasm or contacts components of the
    membrane skeleton.

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Metaphase I
  • Homologous pairs move together along the
    metaphase plate As kinetochore microtubules from
    both centrioles attach to their respective
    kinetochores, the homologous chromosomes align
    along an equatorial plane that bisects the
    spindle, due to continuous counterbalancing
    forces exerted on the bivalents by the
    microtubules emanating from the two kinetochores
    of homologous chromosomes. The physical basis of
    the independent assortment of chromosomes is the
    random orientation of each bivalent along the
    metaphase plate, with respect to the orientation
    of the other bivalents along the same equatorial
    line.

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Anaphase I
  • Kinetochore microtubules shorten, severing the
    recombination nodules and pulling homologous
    chromosomes apart. Since each chromosome has only
    one functional unit of a pair of kinetochores,
    whole chromosomes are pulled toward opposing
    poles, forming two haploid sets. Each chromosome
    still contains a pair of sister chromatids.
    Nonkinetochore microtubules lengthen, pushing the
    centrioles farther apart. The cell elongates in
    preparation for division down the center.

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Telophase I
  • The last meiotic division effectively ends when
    the chromosomes arrive at the poles. Each
    daughter cell now has half the number of
    chromosomes but each chromosome consists of a
    pair of chromatids. The microtubules that make up
    the spindle network disappear, and a new nuclear
    membrane surrounds each haploid set. The
    chromosomes uncoil back into chromatin.
    Cytokinesis, the pinching of the cell membrane in
    animal cells or the formation of the cell wall in
    plant cells, occurs, completing the creation of
    two daughter cells. Sister chromatids remain
    attached during telophase I.
  • Cells may enter a period of rest known as
    interkinesis or interphase II. No DNA replication
    occurs during this stage.

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Meiosis II
  • Meiosis II is the second part of the meiotic
    process. Much of the process is similar to
    mitosis. The end result is production of four
    haploid cells (23 chromosomes, 1N in humans) from
    the two haploid cells (23 chromosomes, 1N each
    of the chromosomes consisting of two sister
    chromatids) produced in meiosis I. The four main
    steps of Meiosis II are Prophase II, Metaphase
    II, Anaphase II, and Telophase II.

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Prophase II
  • Prophase II takes an inversely proportional time
    compared to telophase I. In this prophase we see
    the disappearance of the nucleoli and the nuclear
    envelope again as well as the shortening and
    thickening of the chromatids. Centrioles move to
    the polar regions and arrange spindle fibers for
    the second meiotic division.

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metaphase II
  • In metaphase II, the centromeres contain two
    kinetochores that attach to spindle fibers from
    the centrosomes (centrioles) at each pole. The
    new equatorial metaphase plate is rotated by 90
    degrees when compared to meiosis I, perpendicular
    to the previous plate.

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anaphase II
  • This is followed by anaphase II, where the
    centromeres are cleaved, allowing microtubules
    attached to the kinetochores to pull the sister
    chromatids apart. The sister chromatids by
    convention are now called sister chromosomes as
    they move toward opposing poles.

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telophase II
  • The process ends with telophase II, which is
    similar to telophase I, and is marked by
    uncoiling and lengthening of the chromosomes and
    the disappearance of the spindle. Nuclear
    envelopes reform and cleavage or cell wall
    formation eventually produces a total of four
    daughter cells, each with a haploid set of
    chromosomes. Meiosis is now complete and ends up
    with four new daughter cells.

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Gametes
  • A gamete (from Ancient Greek ?aµ?t?? translated
    gamete wife, gametes husband) is a cell that
    fuses with another gamete during fertilization
    (conception) in organisms that reproduce
    sexually. In species that produce two
    morphologically distinct types of gametes, and in
    which each individual produces only one type, a
    female is any individual that produces the larger
    type of gamete called an ovum (or egg) and a
    male produces the smaller tadpole-like type
    called a sperm. This is an example of anisogamy
    or heterogamy, the condition wherein females and
    males produce gametes of different sizes (this is
    the case in humans the human ovum is
    approximately 20 times larger than the human
    sperm cell). In contrast, isogamy is the state of
    gametes from both sexes being the same size and
    shape, and given arbitrary designators for mating
    type. The name gamete was introduced by the
    Austrian biologist Gregor Mendel. Gametes carry
    half the genetic information of an individual,
    one chromosome of each type. In humans, an ovum
    can carry only X chromosome (of the X and Y
    chromosomes), whereas a sperm can carry either an
    X or a Y hence, it has been suggested that males
    have the control of the sex of any resulting
    zygote, as the genotype of the sex-determining
    chromosomes of a male must be XY and a female XX.
    In other words, due to the presence of the Y
    chromosome exclusively in the sperm, it is that
    gamete alone that can determine that an offspring
    will be a male.

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  • Spermatogenesis is the process by which male
    spermatogonia develop into mature spermatozoa.
    Spermatozoa are the mature male gametes in many
    sexually reproducing organisms. Thus,
    spermatogenesis is the male version of
    gametogenesis. In mammals it occurs in the male
    testes and epididymis in a stepwise fashion, and
    for humans takes approximately 64 days.1
    Spermatogenesis is highly dependent upon optimal
    conditions for the process to occur correctly,
    and is essential for sexual reproduction. It
    starts at puberty and usually continues
    uninterrupted until death, although a slight
    decrease can be discerned in the quantity of
    produced sperm with increase in age. The entire
    process can be broken up into several distinct
    stages, each corresponding to a particular type
    of cell.
  • See Figure 5A-8 BJ2 p 122for diagram of
    Spermatogenesis.)

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  • Oogenesis is the creation of an ovum (egg cell).
    It is the female process of gametogenesis. It
    involves the various stages of immature ova.
  • Plant Meiosis Somewhat different than animal
    meiosis. Cytokinesis is very different. Pollen
    contain the male haploid cells. Pollen retains a
    large amount of cytoplasm, so a source of food
    for many insects. Only one of the haploid cells
    forms the zygote. Ovum of plant contains several
    haploid nuclie because cytokinesis in plants does
    not occur after the ovum nucleus has been formed.
  • Parthenogenesis means the growth and development
    of an embryo or seed without fertilization by a
    male. Parthenogenesis occurs naturally in some
    lower plants (called agamospermy), invertebrates
    (e.g. water fleas, aphids) and some vertebrates
    (e.g. lizards, salamanders, some fish, and even
    turkeys). Parthenogenetic populations are
    typically all-female. As with all types of
    asexual reproduction, there are both costs and
    benefits associated with parthenogenesis.
  • The alteration between parthenogenesis and sexual
    reproduction is called heterogamy. Forms of
    reproduction related to parthenogenesis but that
    require the presence of sperm are known as
    gynogenesis and hybridogenesis.

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Sexual Reproduction
  • Sexual Reproduction Sexual reproduction is
    characterized by processes that pass a
    combination of genetic material to offspring,
    resulting in diversity. The main two processes
    are meiosis, involving the halving of the number
    of chromosomes and fertilization, involving the
    fusion of two gametes and the restoration of the
    original number of chromosomes. During meiosis,
    the chromosomes of each pair usually cross over
    to achieve genetic recombination. Sexual
    reproduction is the primary method of
    reproduction for the vast majority of macroscopic
    organisms, including almost all animals and
    plants. Evolutionary theory has now explanation
    for why sexual reproduction exits.

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Sexual Reproduction
55
Basic Genetics (BJ2 p125)
  • Mendel Genetics
  • Mendel Did his work at the University of Vienna
    in 1850's and 1860's.
  • Mendel discovered that by crossing white flower
    and purple flower plants, the result was not a
    hybrid offspring. Rather than being a mix of the
    two, the offspring was purple flowered. He then
    conceived the idea of heredity units, which he
    called "factors", one which is a recessive
    characteristic and the other dominant. Mendel
    said that factors, later called genes, normally
    occur in pairs in ordinary body cells, yet
    segregate during the formation of sex cells. Each
    member of the pair becomes part of the separate
    sex cell.

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Mendel's Concepts
  • Concept of unit characteristics
  • A unit of characteristic is a biological entity
    (factor) we now call genes that come in pairs.
  • Concept of Dominant and Recessive
  • The dominant gene, such as the purple flower in
    Mendel's plants, will hide the recessive gene,
    the white flower. After Mendel self-fertilized
    the F1 generation and obtained the 31 ratio, he
    correctly theorized that genes can be paired in
    three different ways for each trait AA, aa, and
    Aa. The capital A represents the dominant factor
    and lowercase a represents the recessive. (The
    last combination listed above, Aa, will occur
    roughly twice as often as each of the other two,
    as it can be made in two different ways, Aa or
    aA.)
  • Mendel stated that each individual has two
    factors for each trait, one from each parent. The
    two factors may or may not contain the same
    information. If the two factors are identical,
    the individual is called homozygous for the
    trait. If the two factors have different
    information, the individual is called
    heterozygous. The alternative forms of a factor
    are called alleles. The genotype of an individual
    is made up of the many alleles it possesses. An
    individual's physical appearance, or phenotype,
    is determined by its alleles as well as by its
    environment. An individual possesses two alleles
    for each trait one allele is given by the female
    parent and the other by the male parent. They are
    passed on when an individual matures and produces
    gametes egg and sperm. When gametes form, the
    paired alleles separate randomly so that each
    gamete receives a copy of one of the two alleles.
    The presence of an allele doesn't promise that
    the trait will be expressed in the individual
    that possesses it. In heterozygous individuals
    the only allele that is expressed is the
    dominant. The recessive allele is present but its
    expression is hidden.

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Concept or Law of Segregation (The "First Law")
  • The Law of Segregation states that when any
    individual produces gametes, the copies of a gene
    separate, so that each gamete receives only one
    copy. A gamete will receive one allele or the
    other. The direct proof of this was later found
    when the process of meiosis came to be known. In
    meiosis the paternal and maternal chromosomes get
    separated and the alleles with the characters are
    segregated into two different gametes.

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Concept or Law of Independent Assortment (The
"Second Law")
  • The Law of Independent Assortment, also known as
    "Inheritance Law", states that alleles of
    different genes assort independently of one
    another during gamete formation. While Mendel's
    experiments with mixing one trait always resulted
    in a 31 ratio between dominant and recessive
    phenotypes, his experiments with mixing two
    traits (dihybrid cross) showed 9331 ratios But
    the 9331 table shows that each of the two
    genes are independently inherited with a 31
    ratio. Mendel concluded that different traits is
    inherited independently of each other, so that
    there is no relation, for example, between a
    cat's color and tail length. This is actually
    only true for genes that are not linked to each
    other.

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Terms
  • Self Pollination Self-pollination is a form of
    pollination that can occur when a flower has both
    stamen and a carpel in which the cultivar or
    species is self fertile and the stamens and the
    sticky stigma of the carpel contact each other to
    accomplish pollination. The term is inaccurately
    used in many cases where an outside pollinator is
    actually required such plants are merely self
    fertile, or self pollenizing. Few plants actually
    self pollinate. The mechanism is seen most often
    in some legumes such as peanuts. In another
    legume, Soybeans, the flowers open and remain
    receptive to insect cross pollination during the
    day if this is not accomplished, the flowers
    self pollinate as they are closing.
  • Cross Pollination The transfer of pollen from
    the anther (The pollen-bearing part of the
    stamen) of the flower of one plant to the flowers
    of a different plant.
  • Offspring (Filial generations) F1, F2 etc.
    Offspring generation. F1 is the first offspring
    or filial generation F2 is the second and so
    on. Successive generations of progeny in a
    controlled series of crosses, starting with two
    specific parents (the P generation) and selfing
    or intercrossing the progeny of each new (F1 F2
    . . . ) generation.

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Terms Cont'd
  • Genotype The actual genes you posses such as aa,
    Aa, AA
  • Phenotype Physical expression of your genes.
    Example Aa and AA have same phenotype.
  • Allele Either of a pair (or series) of
    alternative forms of a gene that can occupy the
    same locus on a particular chromosome and that
    control a certain characteristics. A, a
  • Homozygous Having identical alleles at
    corresponding chromosomal loci, AA, aa
  • Heterozygous Having dissimilar alleles at
    corresponding chromosomal loci, Aa
  • Monohybrid A hybrid produced by crossing parents
    that are homozygous except for a single gene
    locus that has 1 set of alleles (two alleles).

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See Fig. 5B-3 p 127
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Punnett Squares
  • The Punnett square is a diagram that is used to
    predict the outcome of a particular cross or
    breeding experiment. It is named after Reginald
    C. Punnett, who devised the approach, and is used
    by biologists to determine the probability of an
    offspring having a particular genotype. The
    Punnett square is a summary of every possible
    combination of one maternal allele with one
    paternal allele for each gene being studied in
    the cross.

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Genetic Ratios
  • AA Aa aa
  • You can predict the genetic and phenotype ratios
    using a Punnett square
  • You can also figure the dominate or recessiveness
    of a plan, using a test cross and applying the
    receive and dominate rules with a Punnett Square.

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Multiple Alleles
  • Any of a set of three or more alleles, or
    alternative states of a gene, only two of which
    can be present in a diploid organism.
  • Example color r, w, y, so you can have more
    phenotypes.

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Multiple Alleles - Blood Type
67
Dihybrid Cross (See BJ2 Fig 5B-8 p 134)
  • A dihybrid cross is a cross between F1 offspring
    (first generation offspring) of two individuals
    that differ in two traits of particular interest.
    For example RRyy/rrYY or RRYY/rryy parents
    result in F1 offspring that are heterozygous for
    both R Y.
  • A dihybrid cross is often used to test for
    dominant and recessive genes in two separate
    characteristics. Such a cross has a variety of
    uses in Mendelian genetics.
  • Meiosis is the cellular process of gamete
    creation, it is where sperm and eggs get the
    unique set of genetic information that will be
    used in the development and growth of the
    offspring of the mating. The rules of meiosis as
    they apply to the dihybrid are codified in
    Mendel's First Law and Mendel's Second Law also
    called the Law of Segregation and the Law of
    Independent Assortment.
  • For genes on separate chromosomes each allele
    pair shows independent segregation. If the first
    filial generation (F1 generation) produces four
    offspring, the second filial generation, which
    occurs by crossing the members of the first
    filial generation, shows a phenotypic
    (appearance) ratio of 9331.

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Mendel's Law of Independent Assortment Multiple -
Gene Interaction
  • Mendel's Law of Independent Assortment
  • The Law of Independent Assortment, also known as
    "Inheritance Law", states that alleles of
    different genes assort independently of one
    another during gamete formation. While Mendel's
    experiments with mixing one trait always resulted
    in a 31 ratio between dominant and recessive
    phenotypes, his experiments with mixing two
    traits (dihybrid cross) showed 9331 ratios But
    the 9331 table shows that each of the two
    genes are independently inherited with a 31
    ratio. Mendel concluded that different traits is
    inherited independently of each other, so that
    there is no relation, for example, between a
    cat's color and tail length. This is actually
    only true for genes that are not linked to each
    other.
  • Multiple Gene Interaction Occurs When Genes at
    Multiple Loci Determine a Single Phenotype In
    dihybrid crosses

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Sex Determined and Sex Linked Traits
  • Sex Chromosomes X and Y chromosomes are the sex
    determining chromosomes.
  • In people and mammals the XX is female XY is male
    there is no YY
  • In birds, the opposite is true the male is the
    homogametic sex, having two X chromosomes (XX),
    and the female (hen) is heterogametic, having one
    X and one Y chromosome (XY).
  • Punnett square shows that there is a 50 50 chance
    for a male or female to be born.
  • Sex of human baby and mammals determined by the
    father
  • Sex of birds determined by mother
  • Sex Determined Traits Trait only associated with
    one sex or the other, not both.
  • Sex-linked Traits Sex linkage is the phenotypic
    expression of an allele that is related to the
    chromosomal sex of the individual. This mode of
    inheritance is in contrast to the inheritance of
    traits on autosomal chromosomes, where both sexes
    have the same probability of expressing the
    trait. Since, in humans, there are many more
    genes on the X than there are on the Y, there are
    many more X-linked traits than there are Y-linked
    traits. For some alleles (X nad Y) males only
    have one and females two. Think of the Y as
    missing one branch of the "X"
  • Examples Color blindness and hemophilia (see BJ2
    Fig 5B-2 p 140)
  • Carriers Sex linkage is the phenotypic
    expression of an allele that is related to the
    chromosomal sex of the individual. This mode of
    inheritance is in contrast to the inheritance of
    traits on autosomal chromosomes, where both sexes
    have the same probability of expressing the
    trait. Since, in humans, there are many more
    genes on the X than there are on the Y, there are
    many more X-linked traits than there are Y-linked
    traits.

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Sex Linked Possiblities
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