GENETICS Meiosis - The Bio Edge - · PDF file · 2014-02-07Proteins are the link...
Transcript of GENETICS Meiosis - The Bio Edge - · PDF file · 2014-02-07Proteins are the link...
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GENETICS Meiosis
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PREFACE• Genetics- is the study of heredity and hereditary variation.
• Heredity- aka inheritance, is the transmission of traits one generation to another.
• Innate to heredity is the passing of similar traits and the generation of variation.
• There are important and practical applications that come from our understanding of heredity and hereditary variation.
• Your understanding of genetics requires a comprehensive understanding of meiosis, a special case of cell division.
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MeiosisI.Main Idea: Parents pass chromosomes to their offspring, these chromosomes contain genes (the unit of heredity) that control traits.
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Remember this?
• (Basic Definition) A unit of inheritance that controls a phenotypic character.
• (Better Definition) A nucleotide sequence along a molecule of DNA that codes for a protein.
• (Best Definition) A region of DNA that can be expressed to produce a final functional product that is either a polypeptide or an RNA molecule.
GenesDNA Proteins Traits
OK, What exactly is a gene?
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Genes
ProteinsTraits
Genotype Phenotype?
Proteins are the link between genotypes and phenotypesProteins are the link between genotypes and phenotypesProteins are the link between genotypes and phenotypesProteins are the link between genotypes and phenotypes
Review
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• The flow of genetic information involves two processes.
• Transcription
• Translation
• Together these two processes represent gene expression.
DNAGlobal Flow of Information
RNA Protein
Review
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Inheritance of Genes• Gametes- are the vehicles that carry genes from one
generation to another.
• Gametes are haploid, they carry only 50% a parent’s genes (these genes are carried in 1 complete set of chromosomes).
• Germ cells are diploid cells (they contain 2 copies of every chromosome) that undergo a special type of cell division that produces unique haploid cells...gametes
• Fertilization- the union of gametes brings 1 set of chromosomes from each parent and produces a single unique cell called a zygote that is diploid .
• The zygote undergoes mitosis over and over again producing trillions of somatic cells (all diploid body cells except germ cells and gametes).
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Inheritance of Genes• Asexual Reproduction-
• one parent
• no fusion of gametes
• daughter cells get all of parent’s genes
• daughter cells are identical* to each other and parent cell}Binary
Fission
Mitosis
* Unless of course a mutation occurs!
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Inheritance of Genes• Sexual Reproduction-
• two parents
• fusion of gametes
• daughter cells get half of parent’s genes
• daughter cells are completely unique (one of kind cells)
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MeiosisII.Main Idea: Fertilization and meiosis alternate in life cycles regardless of variations in life cycles.
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Closer look at Chromosomes
This is a karyotype, an ordered display of chromosomes. Notice the 23 types (pairs) are numbered and arranged from long to short. The position of the centromere and the colored banded
patterns are also used when arranging the chromosomes.
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Closer look at Chromosomes
Sex Chromosomes- the X and Y chromosomes
they are 23rd pair and they determine the sex of
the offspring (XX=girl) (XY=boy)
Autosomes- the first 22 pairs chromosomes
(all except sex chromosomes)
Homologous Chromosomes-
chromosomes with same, length, centromere
position and they carry genes controlling the same
traits
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Diploid-symbol 2n-two sets of chromosomes(maternal & paternal sets)-includes almost all cells-humans 2n=46
Haploid-symbol n-one set of chromosomes(maternal & paternal sets)-only sperm and eggs-humans n=23
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Describing Chromosomes
2n = 6
Key
Maternal set of chromosomes (n = 3)
Paternal set of chromosomes (n = 3)
Pair of homologouschromosomes(one from each set)
Centromere
Two nonsister chromatids in a homologous pair
Two sister chromatids of one replicated chromosome
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Behavior of ChromosomesKey
Haploid (n)Diploid (2n)
Haploid gametes (n = 23)
Ovum (n)
SpermCell (n)
MEIOSIS FERTILIZATION
Ovary Testis Diploidzygote(2n = 46)
Mitosis anddevelopment
Multicellular diploidadults (2n = 46)
Fertilization and meiosis alternate in sexual life cycles, thus maintaining a constant number of chromosomes in each species from generation to generation.
Human Life Cycle:
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Review: Spermatogenesis
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Review: Oogenesis
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Variation of Sexual Life Cycles
Gametes
Diploidmulticellular
organism
Key
MEIOSIS FERTILIZATION
nn
2n2nZygote
HaploidDiploid
Mitosis
(a) Animals
nn
n
nn
Haploid multicellularorganism
(gametophyte)
Spores
Diploidmulticellularorganism(sporophyte)
(b) Plants and some algae
nn
n
n
n
Haploid multicellularorganism
(c) Most fungi and some protists
• Alternation of fertilization and meiosis is common in all cycles
• The timing of these two events differs in each cycle
n
2n2n
2nZygoteZygote
MitosisMitosis
MitosisMitosis
MEIOSISMEIOSIS FERTILIZATIONFERTILIZATION
Mitosis
GametesGametes
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Animal Life Cycle
Gametes
Diploidmulticellular
organism
Key
MEIOSIS FERTILIZATION
nn
2n2nZygote
HaploidDiploid
Mitosis
(a) Animals
• Meiosis occurs only in germ cells
• Germ cells produce gametes
• Gametes are the only haploid cells
• Zygote grows mitotically into a multicellular diploid organism
n
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nn
n
nn
Haploid multicellularorganism
(gametophyte)
Spores
Diploidmulticellularorganism(sporophyte)
(b) Plants and some algae
2n2n
Zygote
MitosisMitosis
MEIOSIS FERTILIZATION
Mitosis
Gametes
• Exhibit alternation of generations-
• Gametophyte- a multicellular haploid organism/stage
• produces haploid spores
• Sporophyte- a multicellular diploid organism/stage
• produces haploid gametes
Plant/Algae Life Cycle
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Fungi/Protists Life Cycles n
n
n
n
n
Haploid multicellularorganism
(c) Most fungi and some protists
2nZygote
MitosisMitosis
MEIOSIS FERTILIZATION
Gametes
• Meiosis occurs in zygote
• Meiosis does not result in gametes
• Meiosis produces haploid cells that mitotically produce a multicellular haploid organism
• Mitosis produces gametes
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MeiosisIII.Main Idea: Meiosis reduces the number of chromosomes from 2 sets (diploid) to 1 set (haploid).
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Mitosis and Meiosis• There are many similarities and important differences between
mitosis and meiosis.
• Look for comparisons as we examine each stage of meiosis in slides that follow.
• In the meantime lets begin our examination of meiosis with this fundamental difference between the two processes.
MeiosisMitosisProduces 2 identical
diploid cellsProduces 4 unique
haploid cells
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Meiosis OverviewInterphase
Homologous pair of chromosomes in diploid parent cell
Chromosomesreplicate
Homologous pair of replicated chromosomes
Sisterchromatids
Diploid cell withreplicatedchromosomes
Haploid cells with replicated chromosomes
Sister chromatids separate
Haploid cells with unreplicated chromosomes
Meiosis I
Meiosis II
Homologous chromosomes separate
Haploid cells with replicated chromosomes
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Meiosis I
Centrosomes(with centriole pairs)
Sisterchromatids
Chiasmata
Spindle
Tetrad
Nuclearenvelope
Chromatin
Centromere(with kinetochore)
Microtubuleattached tokinetochore
Tetrads line up
Metaphaseplate
Homologouschromosomesseparate
Sister chromatidsremain attached
Pairs of homologouschromosomes split upChromosomes duplicate
Homologous chromosomes (red and blue) pair and exchange segments; 2n = 6 in this example
INTERPHASE MEIOSIS I: Separates homologous chromosomesPROPHASE I METAPHASE I ANAPHASE I
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Meiosis IITELOPHASE I AND
CYTOKINESISPROPHASE II METAPHASE II ANAPHASE II TELOPHASE II AND
CYTOKINESIS
MEIOSIS II: Separates sister chromatids
Cleavagefurrow
Sister chromatidsseparate
Haploid daughter cellsforming
During another round of cell division, the sister chromatids finally separate;four haploid daughter cells result, containing single chromosomes
Two haploid cells form; chromosomes are still double
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Meiosis: A Closer Look• Interphase G1
• cell grows
• organelles replicate
• carries out destined functions
• Interphase S
• replicates DNA
• replicates centrosomes
• cell grows
• organelles replicate
• carries out destined functions
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• Interphase G2
• cell grows
• organelles replicate
• carries out destined functions
• prepares for divisions
• condenses chromatin into chromosomes (at the very end of G2 or start of prophase)
• Prophase 1
• chromosomes begin to condense
Meiosis: A Closer Look
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• Prophase 1 (beginning)
• homologs pair up lengthwise
• synapsis* occurs, homologs connect at the synaptonemal complex
• crossing over* occurs, genetic exchange between corresponding segments of the chromosomes
• Prophase 1 (middle)
• synaptonemal complex disassembles and homologs are loosely joined
Meiosis: A Closer Look
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Homologous Chromosomes Pairs (aka “tetrads”)
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• Prophase 1 (middle)
• each chromosome has an “x” shaped region called the chiasma. It is the point where crossing over has occurred
• nuclear envelope breaks down
• centrosomes migrate
• spindle fibers form
Meiosis: A Closer Look
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• Prophase 1 (late)
• microtubules attach to kinetochores and move the homologous pairs toward the middle of the cell
• Metaphase 1
• homologous pairs (tetrads*)are now aligned at the metaphase plate
• both chromatids of each pair are attached to spindles from opposite poles
Meiosis: A Closer Look
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• Anaphase 1
• proteins holding homologs together break down
• homologs separate and move toward each opposite pole
• cohesion remains between sister chromatids and they move as a unit
Meiosis: A Closer Look
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• Telophase I & Cytokinesis
• each set has a haploid set of chromosomes but amount of DNA is still that of an normal cell
• one of both sister chromatids contain regions of nonsister chromatid DNA
• Cytokinesis begins before telophase 1 is complete
Meiosis: A Closer Look
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• Cytokinesis
• animal cells create cleavage furrows and plant cells create cell plates
• no DNA replication between meiosis 1and II
• In some species the chromosomes de-condense and reform a nuclear envelope
Meiosis: A Closer Look
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• Prophase II
• spindles form once again
• microtubules attach to kinetochores and move the sister chromatids toward the middle of the cell
Meiosis: A Closer Look
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• Metaphase II
• sister chromatids are now aligned at the metaphase plate
• each chromatid of each pair are genetically unique because of crossing over
Meiosis: A Closer Look
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• Anaphase II
• proteins holding sister chromatids breakdown
• chromatids separate and move toward opposite poles as individual chromosomes
Meiosis: A Closer Look
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• Telophase II & Cytokinesis
• chromosomes begin to de-condense
• nuclear envelop reforms
• cytokinesis results in 4 haploid cells
• 4 cells are unique and haploid
Meiosis: A Closer Look
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Animation of Meiosis
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Illustrated Comparison
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Summary: Mitosis/Meiosis
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Production of Gametes
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MeiosisIV.Main Idea: Meiosis creates the genetic variation associated with sexual reproduction.
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Evolution & Genetics• Mutations created every allele, and will create every new allele in
the future.
• recall alleles are different genes
• Sexual Reproduction/Meiosis shuffles those alleles to produce unique individuals and variation in gene pools
• Meiosis plays therefor a direct role in evolution by providing the necessary variation for natural selection to work on.
• Also, understanding meiosis provides an understanding of the mechanics behind inheritance of traits (genetics)
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Evolution & Genetics• The following slides will explore 3 mechanisms that generate
variation in sexual reproduction.
• independent assortment,
• crossing over and
• random fertilization
• This exploration is important for two reasons:
• First, it illuminates the sources of variation that evolution requires.
• Secondly, understanding meiosis and these same mechanisms and that generate variation will provide the foundation for our understanding of inheritance (genetics).
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• In metaphase 1, the homologous pairs (tetrads) align randomly at the cellular equator.
• The paternal and maternal chromosomes are randomly oriented towards one of the poles.
• Notice above 3 homologous pairs (tetrads) can arrange themselves in 4 different ways.
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• Thus every gamete has a 50% chance of getting a paternal or maternal chromosome for each and number of chromosome pairs.
How many different gametes are produced if this example of meiosis goes to completion?
8Tuesday, March 12, 2013
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• Each daughter cell represents one outcome of all possible combinations of paternal and maternal chromosome combinations.
• Mathematically we can calculate the number of possible combinations by using the following equation:
• 2n where n is the haploid number of the organism.
Humans:
...haploid number is 23, so 223 = ~8.4 million
Bottom Line-...humans can create ~8.4 million different gametes
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Random Fertilization• Although the process of ovulation is not random the actual
oocyte that is ovulated is completely random.
• Although some sperm are more fit than others, the actual sperm that fertilizes the oocyte is completely random.
• This brings us back to the math... (8.4million)(8.4million)=
• ...if any of the 8.4 million different oocytes could be fertilized by any of the 8.4 million different sperm than we could in produce ~ 70 trillion different zygotes!
• You can see that validity in the age old expression “you are one of a kind”
• But even this number does not tell the whole story of our truly unique nature, the fact is the actual number is far greater than 70 trillion.
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Crossing Over• Our examination of independent assortment leads us to believe
that we inherit strictly paternal or maternal chromosomes but this is not the case.
• As a consequence of independent assortment paternal and maternal chromosomes exchange segments creating unique chromosomes different than the one we inherited from our parents.
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Crossing Over
Recombinant Chromosomes
Chiasma
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Crossing Over
Humans have on average 1-3 cross overs per chromosome pair, depending on the size of
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When we consider that crossing over takes place 1-3 times on 23 different pairs, multiply that by the variation that independent
assortment and random fertilization create and you have an astronomically large number of possible individual offspring.
In this simple example crossing over has doubled
the genetic variation possible.
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Transition to GeneticsV.Main Idea: The principles of meiosis provide the foundation and framework for understanding the inheritance of traits.
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Alleles• Alleles are alternate forms of genes.
• Genes are strings of nucleotides that make up DNA.
• DNA wraps around proteins to form chromosomes.
• During reproduction parents donate chromosomes (carrying the alleles) that determine the traits of their offspring.
BUT, here is the key point! Parents do donate single alleles to their offspring rather single
chromosomes. The chromosomes are packages of hundreds of alleles, to understand inheritance you have to understand the behavior of chromosomes,
in other words meiosis!
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The location of an allele/gene on a chromosome is a locus (sing.) or loci (pl.).
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We can not see genes so we use symbolic letters to represent the genes we can not see.
symbol for purple flowers
symbol for white flowers
A
a
codes for the same trait, but different “recipe”
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A Chromosome Carries Many Alleles/Genes
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Follow the chromosome, follow the traits!
4 total gametes but only 2 possible kinds
Law of Segregation-2 alleles in a pair must
separate from each other into separate gametes
inherited from her mother
inherited from her fathersay...mother
(“S”eggs) (“s”eggs)Tuesday, March 12, 2013
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We Can Follow Two Traits Simultaneously
8 total gametes but only 4 possible kinds
Law of Independent Assortment-
when a genes for two traits are on different pairs of
homologous chromosomes they assort independently
from each other upon gamete formation.
2 possible alignments
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We Can Follow Two Traits Simultaneously
8 total gametes but only 2* possible kinds
Draw the possible alignments in metaphase I.
Law of Independent Assortment-
when a genes for two traits are on different pairs of
homologous chromosomes they assort independently
from each other upon gamete formation.
WHY?
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What do all of the last three slides have in common?
We know the possible gametes, the different types of sperm or eggs that “could” be produced by the parent.
1.) We know that offspring result from the fusion of sperm with egg.
2.) If we know the types of possible sperm3.) and we know the types of possible eggs 4.) then we can predict the possible offspring
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sperm eggs
FemaleMale
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1.) What are the possible sperm?2.) What are the possible eggs?3.) What are the possible fertilizations? 4.) What are the possible offspring?
R
r 2.
r3.
4.
1.
R
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sperm eggs
FemaleMale
What if we change it up?
R R R r
rrRRRRRR
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R
r
r
R
R
1.) What are the possible sperm?2.) What are the possible eggs?3.) What are the possible fertilizations? 4.) What are the possible offspring?
R R
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sperm eggs
FemaleMale
What if we change it up again?
R R r
rrRRrrRR
r
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R
r
r
R
Rr R r
1.) What are the possible sperm?2.) What are the possible eggs?3.) What are the possible fertilizations? 4.) What are the possible offspring?
R R
rrTuesday, March 12, 2013
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How many different types of sperm? Eggs?
How many offspring are depicted?
How many different
offspring are represented?
What patterns do see in all
gametes?
What patterns do see in all offspring?
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In Summary• Genetics- the study of heredity and hereditary variation.
• Heredity- the transmission of traits one generation to another.
• Trait- one or more detectable variants in a genetic characteristic.
• Characteristic- an observable feature that may vary among individuals.
• Gene- a discrete unit of hereditary information consisting of a specific nucleotide sequence in DNA that is responsible for characteristics.
• Chromosome- a cellular structure carrying genetic information (genes)
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Transition to Genetics
It is amazing to think that our knowledge of genetics was born in a garden before we knew about chromosomes, genes and DNA.
BUT, here again is the key point! Chromosomes carry genes, genes control traits and genetics
studies the transmission of these traits.
Understanding chromosomes transmission from one generation to another is an essential piece of
knowledge in the “genetic puzzle”
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