Structure of Chromosomes
Chromosomes in Somatic and Sex Cells
Meiosis
Differences between Meiosis I and II
Reasons for Variation
Importance of Meiosis
Differences between Mitosis and Meiosis
Similarities between Meiosis and Mitosis
Consequences of Abnormal Meiosis
Chromosomes before replication:- Each chromosome (before DNA replication for meiosis) consists of one DNA molecule which is tightly coiled around proteins; the arms are connected by a centromere.
Chromosomes after replication:- After replication (e.g., in Prophase I of meiosis), each chromosome consists of two DNA molecules.
The two halves of a replicated chromosome are called identical sister chromatids.
The identical sister chromatids are connected, in between the arms, by one centromere.
Chromosomes carry genes, which are small portions of DNA that code for specific traits.
Chromatid
Centromere
Short arm
Long arm
One un-replicated chromosome, with one DNA molecule: one chromatid
One replicated chromosome, with two DNA molecules called sister chromatids.
Figure 15: Before DNA replication, each chromosome comprises one DNA molecule. After replication, each chromosome comprises two DNA sister chromatids.
Figure 20: Relationships between molecules. The two halves of a replicated chromosome are called chromatids.
Cell --> Nucleus --> DNA, genes, & chromosomes
DNA
Nitrogenous bases
Adenine
Guanine
Thymine
Cytosine
Sugar-phosphate backbone
Chromosome
Gene (segment of DNA)
Somatic Cells (Body Cells)- These are all cells in the body except sex cells (e.g., skin, lung, liver cells).
Somatic cells are diploid (2n), meaning they contain two complete sets of chromosomes.
In humans, somatic cells have 46 chromosomes, arranged as 23 pairs.
Sex Cells (Gametes)- These are reproductive cells: sperm cells (male) and egg cells (female).
Gametes are haploid (n), meaning they contain one complete set of chromosomes.
In humans, gametes have 23 chromosomes.
Somatic Cell
Diploid
46 chromosomes (2n) in human
Skeletal and muscle cells
Blood cells
Stem cells
All other cells
Organ and tissue cells
Fat cells
Neuron cells
SOMATIC CELLS- Can be found in several parts of the body excluding the reproductive parts.
Somatic cells are diploid, meaning they have two sets of chromosomes.
Somatic cells contribute to the overall genetic makeup of the individual.
Formed through the process of mitosis.
Somatic cells and gametes share common cellular structures, such as the nucleus, cytoplasm, and cell membrane.
Both somatic cells and gametes ultimately originate from germ cells.
Gamete Cell
Germ line (germ cells)
Haploid
23 chromosomes (n) in human
Sperm
Ovum (egg)
Fertilized egg
GAMETES- These are reproductive cells, specifically the egg cells (ova) in females and sperm cells in males.
Gametes are haploid, meaning they have only one set of chromosomes.
Gametes are involved in sexual reproduction and contribute half of the genetic material to the offspring.
Formed through the process of meiosis.
Homologous Chromosomes:-
In diploid cells, chromosomes exist in pairs.
One chromosome of each pair comes from the mother, and one from the father.
These pairs are called homologous chromosomes.
Homologous chromosomes have the same shape, size, and carry genes for the same characteristics at the same positions (loci).
Homologous Chromosomes
Homologous chromosomes
Haploid (N)
Diploid (2N)
Triploid (3N)
Tetraploid (4N)
same length
Replication
Centromere
same gene location
sister chromatids
Karyotype:-
This is the number, appearance, and arrangement of a full set of chromosomes in the nucleus of a somatic cell.
Human karyotypes show 23 pairs of chromosomes.
Autosomes:-
There are 22 pairs of autosomes in humans.
These control general body characteristics, structure, and functioning.
They are numbered 1 to 22.
Gonosomes (Sex Chromosomes):-
The 23rd pair determines sex.
Females have two X chromosomes (XX) – an identical pair.
Males have one X chromosome and one Y chromosome (XY) – a non-identical pair.
Karyotype
Normal male
Klinefelter syndrome; (XXY) or XYY syndrome
Y chromosome rearrangements ; X del(Yq)
Normal female
Turner syndrome; X0 or XX-X or Trisomy X syndrome; XXX
Abnormality Name | Chromosome Number(s) | Short Description |
---|---|---|
Very Common Abnormalities | ||
Down Syndrome | 47 (Trisomy 21) | Extra chromosome 21. Causes distinct facial features, intellectual disability (varied), developmental delays, potential heart/health issues. |
Edwards Syndrome | 47 (Trisomy 18) | Extra chromosome 18. Severe; major physical abnormalities, profound intellectual disability, very low survival rate. |
Patau Syndrome | 47 (Trisomy 13) | Extra chromosome 13. Severe; serious birth defects (brain, heart), intellectual disability, very low survival rate. |
Klinefelter Syndrome | 47, XXY | Males with an extra X chromosome (XXY). Affects sexual development (e.g., low testosterone, infertility), possible learning difficulties. |
Turner Syndrome | 45, X (or 45, X0) | Females missing one X chromosome (X0). Causes short stature, underdeveloped ovaries (infertility), possible specific physical traits/heart issues. |
Very Uncommon Abnormality | ||
Triploidy | 69 (e.g., 69,XXX; 69,XXY) | Three complete sets of chromosomes (69 total). Extremely rare for live birth; usually fatal due to severe widespread abnormalities. |
TERM: Gametes
DEFINITION: Is another word for sex cells.
USE IN SENTENCE: The gamete found in the human female is called the egg or ovum.
TERM: Somatic cells
DEFINITION: These are normal body cells.
USE IN SENTENCE: All the other cells in the body are called somatic cells.
TERM: Karyotype
DEFINITION: Is the number and appearance of chromosomes in the nucleus
USE IN SENTENCE: A karyotype can be used to detect any genetic diseases.
TERM: Haploid
DEFINITION: Refers to having just one set of chromosomes.
USE IN SENTENCE: Gametes have a haploid number of chromosomes.
TERM: Diploid
DEFINITION: Having a double set of chromosomes
USE IN SENTENCE: Somatic cells have a diploid number of chromosomes.
TERM: Autosomes
DEFINITION: All the chromosomes except the sex chromosomes.
USE IN SENTENCE: In a karyotype there are 22 pairs of autosomes.
TERM: Gonosome
DEFINITION:
These are the sex chromosome
USE IN SENTENCE:
In a female the gonosome is XX.
Meiosis is a type of cell division where one parent cell divides to form four daughter cells.
These four daughter cells are genetically different from each other and from the original parent cell.
Crucially, these four daughter cells possess half the chromosome number (meaning they contain one complete set of chromosomes) of the original parent cell (they are haploid).
Thus:
Meiosis reduces the chromosome number by half.
Meiosis produces four genetically distinct haploid cells (gametes or spores).
Meiosis is essential for sexual reproduction to maintain a constant ploidy number across generations.
Meiosis results in the formation of gametes (sex cells) in animals and humans, or spores in some other organisms like plants.
Meiosis occurs in both plant and animal cells.
In plants:
It occurs in the anther to produce pollen grains (which contain male gametes).
It also occurs in the ovary of plants to produce egg cells (female gametes).
In humans:
In females, meiosis occurs in the ovary during the process of oogenesis to produce an egg cell (ovum).
In males, meiosis occurs in the testes during the process of spermatogenesis to form spermatozoa (sperm cells).
Produces Haploid Gametes:- The gametes (sperm and egg) produced by meiosis have half the number of chromosomes as the original body (somatic) cell meaning they contain one complete set of chromosomes. This means they are haploid (n).
Restoration of Diploid Number at Fertilisation:- This halving of chromosomes is essential so that when fertilisation occurs (the fusion of a haploid sperm with a haploid egg), the resulting zygote is diploid (2n).
The diploid zygote contains the correct, full number of chromosomes (meaning they contain two complete sets of chromosomes) characteristic of the species.
Development of Multicellular Adult:- The diploid zygote then divides by mitosis (a different type of cell division that maintains chromosome number) to develop into a multicellular adult organism.
Human Life Cycle
46 chromosomes
Male individual
Female individual
MEIOSIS
23 chromosomes
Sperm
23 chromosomes
egg
FERTILISATION
46 chromosomes
Zygote
Mitosis (growth)
46 chromosomes in each somatic cell in the new individual
Human life cycle
Haploid gametes (n = 23)
Ovum (n)
Sperm cell (n)
Ovary; Testis
Diploid (2n)
Multicellular diploid adults (2n = 46)
Diploid zygote (2n = 46)
Nuclear envelope
Centrosomes (with centriole pairs)
Chromatin
Chromosomes duplicate
Interphase is the preparatory phase that occurs before Meiosis I begins.
Key event: DNA Replication-
The DNA within the cell replicates (makes identical copies of itself).
As a result, the genetic material in the chromatin network is doubled.
This means each chromosome becomes double-stranded, consisting of two identical sister chromatids joined by a centromere.
Meiosis I is known as Reductional Division primarily because the number of chromosomes (ploidy level) in the cells is reduced by half from the beginning to the end of this stage.
Chiasmata
Spindle
Sister chromatids
Tetrad
Homologous chromosomes
Bivalents form; arrange in pairs.
centriole
spindle fibres
Homologous chromosomes aligned
chromosome
Chromosome condensation
The chromatin network (diffuse DNA) condenses and coils tightly.
As a result, chromosomes become shorter, thicker, and individually visible under a microscope.
Pairing of homologous chromosomes (synapsis)
Homologous chromosomes (one maternal, one paternal chromosome of each type) find each other and arrange themselves in pairs.
A bivalent is formed when a pair of homologous chromosomes lie closely together, side-by-side.
Homologous chromosomes aligned
Chromosome crossover
Representation of crossing over
Homologous chromosomes arrange themselves in pairs
Bivalent forms
Sister chromatids are visible
Crossing over and exchange of chromatid segments occur
Homologous chromosome pair after crossing over
This is a critical event for genetic variation.
It takes place between non-sister chromatids of homologous chromosomes within a bivalent.
One chromatid from the maternal chromosome overlaps with a chromatid from the paternal chromosome.
The point(s) where this overlapping and exchange occurs is called a chiasma (plural: chiasmata).
At the chiasma, segments of the chromatids break off and are exchanged, attaching to the corresponding position on the other chromatid.
After crossing over, when the homologous chromosomes eventually separate, each chromosome (specifically, its chromatids that participated in the exchange) will now possess a new combination of genetic material, containing segments from both the maternal and paternal chromosome.
This results in the reshuffling of genetic material between homologous chromosomes.
Other cellular changes in Prophase I
In animal cells, centrioles move to opposite poles of the cell.
Spindle fibres (microtubules) begin to form from these poles.
The nuclear membrane (nuclear envelope) starts to break down and disappear.
The nucleolus also begins to disappear.
Exchange of genetic material- Crossing over results in a physical exchange of segments of DNA between homologous chromosomes.
Therefore, after crossing over, individual chromatids (and thus the chromosomes they are part of) can have a combination of genes from both the maternal and paternal parent.
Creation of genetic variation- This exchange means that the gametes eventually produced will be genetically different from each other and from the parent cell.
Crossing over is a primary mechanism responsible for generating genetic variation among offspring in sexually reproducing organisms.
Microtubule attached to kinetochore
Metaphase plate
Bivalents on equator
Chromosome in double row
Centromere (with kinetochore)
Spindle fibres are fully formed and attach to the centromeres of each chromosome.
Homologous chromosome pairs (bivalents) move to the equator (middle plane) of the cell.
The two homologous chromosomes of each pair lie parallel to each other, on opposite sides of the equator.
Random arrangement (or independent assortment) of these homologous pairs occurs:
Which chromosome of a pair lies on which side of the equator is completely by chance.
This random arrangement is a key source of further genetic variation in the gametes.
Sister chromatids remain attached
One chromosome of the bivalent moves to one pole, and its partner moves to the other pole.
Chromosomes group at the poles.
Homologous chromosomes separate
Pairs of homologous chromosomes split up
The spindle fibres contract and shorten.
This pulls one whole chromosome from each homologous pair to opposite poles of the cell.
This process separates the homologous chromosomes, with one chromosome from each pair moving to each pole.
Important: Sister chromatids do not separate at this stage; entire replicated chromosomes move.
Cleavage furrow forms
Two daughter cells with half the chromosome number (n) are formed.
Groups of replicated chromosomes (each consisting of two sister chromatids) arrive at each pole.
A new nuclear membrane forms around the group of chromosomes at each pole.
The nucleolus may reappear within each new nucleus.
Spindle fibres disappear.
Cytokinesis (division of the cytoplasm) occurs, splitting the original cell into two daughter cells.
Final outcome of Meiosis I
This results in two daughter cells.
Crucially, each new daughter cell now has half the number of chromosomes (is haploid, n) compared to the original diploid mother cell.
The cells are genetically different from each other and from the original parent cell. This is due to:
Crossing over (which occurred in Prophase I, reshuffling alleles between homologous chromosomes).
Random arrangement of homologous chromosomes at the equator during Metaphase I.
Meiosis II begins with the two haploid (n) daughter cells produced during Meiosis I.
Unlike Meiosis I, there is no Interphase before Meiosis II, meaning DNA does not replicate again.
The process of Meiosis II is very similar to mitosis. Each of the two haploid cells from Meiosis I will divide.
Meiosis II is known as Equational Division primarily because the number of chromosomes (ploidy level) in the cells remains the same (equal) from the beginning to the end of this stage.
The chromosomes (each still composed of two chromatids joined by a centromere) become visible.
Important: Chromosomes are NOT in homologous pairs at this stage.
In animal cells, the centrioles (from the division of the centrosome) move to opposite poles.
Spindle fibres begin to form from the poles.
The nuclear membrane and nucleolus start to disappear (if they reformed in Telophase I).
Single chromosomes (each consisting of two chromatids) align themselves randomly along the equator (middle plane) of each cell in a single row.
The centromere of each chromosome is in line with the equatorial plane.
Spindle fibres from opposite poles attach to the centromeres of each chromosome (specifically, to the kinetochores).
The orientation of which chromatid faces which pole is random, contributing further to genetic variation.
The centromeres of each chromosome split in half.
The sister chromatids are pulled apart by the contracting spindle fibres.
These separated chromatids (now considered individual, single-stranded chromosomes or unreplicated chromosomes) move to opposite poles of the cell.
A complete set of unreplicated chromosomes (formerly chromatids) is now present at each pole.
Spindle fibres disappear.
A new nuclear membrane forms around each group of chromosomes.
A nucleolus reforms in each new nucleus.
Cytokinesis then occurs, dividing the cytoplasm of each cell.
Outcome of Meiosis II
Since Meiosis II occurred in the TWO cells produced by Meiosis I, the final result is FOUR daughter cells.
Each of these four daughter cells is haploid (n), meaning it has half the number of chromosomes as the original parent cell that entered Meiosis I.
All four daughter cells are genetically different from each other and from the original parent cell (due to crossing over in Prophase I and random assortment in Metaphase I & II).
Cytokinesis is the physical process of cell division, which divides the cytoplasm of a parental cell into daughter cells. It typically occurs after the nucleus has divided (karyokinesis).
In animal cells:
Once the two new nuclei are formed, the cell membrane constricts or cleaves (pinches inwards) around the middle of the cell.
This constriction, often called a cleavage furrow, deepens until it meets in the middle, eventually forming two separate daughter cells.
In plant cells:
A cell plate (a new cell wall precursor) forms between the two newly formed nuclei, along the equator of the cell.
This cell plate grows outwards, eventually dividing the original cell into two new daughter cells, each with its own cell wall.
Prophase – Chromosomes PAIR up (in Meiosis I, crossing over occurs).
Metaphase – Chromosomes move to the MIDDLE (equator).
Anaphase – Chromosomes move APART to the poles.
Telophase – TERMINAL phase where daughter cells are formed.
(Note: This mnemonic applies to both Meiosis I and Meiosis II, but the specifics of what pairs up or moves apart differ between the two stages).
Interphase (Before Meiosis I):
DNA replicates (chromosomes become two sister chromatids).
Prophase I:
Chromosomes condense.
Homologous chromosomes pair up (synapsis) forming bivalents.
Crossing over occurs at chiasmata between non-sister chromatids, leading to genetic recombination.
Nuclear envelope breaks down; spindle fibres form.
Metaphase I:
Bivalents (homologous pairs) align randomly at the cell's equator.
Independent assortment of homologous pairs occurs (key for variation).
Spindle fibres attach to each chromosome of a homologous pair.
Anaphase I:
Homologous chromosomes separate and move to opposite poles.
Sister chromatids remain attached at their centromeres.
Telophase I & Cytokinesis:
Chromosomes (each still composed of two sister chromatids) gather at poles.
Nuclear envelopes may reform.
Cytoplasm divides.
Result:
Two genetically different haploid (n) daughter cells. (Goal: Separate homologous chromosomes; diploid (2n) → two genetically different haploid (n) cells; chromosomes remain replicated).
Prophase II:
Chromosomes re-condense (if they decondensed).
Nuclear envelope breaks down (if reformed).
New spindle fibres form in each cell.
Metaphase II:
Individual replicated chromosomes (each with two sister chromatids) align randomly at the equator of each cell.
Spindle fibres attach to the centromeres (kinetochores of sister chromatids).
Anaphase II:
Centromeres divide.
Sister chromatids separate and are pulled to opposite poles.
Separated chromatids are now considered individual unreplicated chromosomes.
Telophase II & Cytokinesis:
Unreplicated chromosomes gather at poles.
Nuclear envelopes reform.
Chromosomes decondense.
Cytoplasm divides for each cell.
Result:
Four genetically different haploid (n) daughter cells. (Goal: Separate sister chromatids; results in four genetically different haploid (n) cells; chromosomes become unreplicated. Similar to mitosis but starts with haploid cells.)
Note: Interkinesis may occur between Meiosis I & II – NO DNA replication.
Production of gametes
Halving of the chromosome number (the halving effect)
Introduction and promotion of genetic variation
Production of gametes
Meiosis is essential for producing gametes (sex cells, e.g., sperm and egg cells).
Typically, four daughter cells (gametes) are formed from one parent cell undergoing meiosis.
Halving of the chromosome number (the halving effect)
Meiosis reduces the chromosome number by half, transforming diploid cells (2n) in the sex organs into haploid sex cells (n).
This halving effect is crucial because it ensures that when haploid gametes fuse during fertilisation, the resulting zygote is diploid (2n).
Consequently, the species-specific chromosome number remains constant from generation to generation and is not doubled with each fertilisation.
Introduction and promotion of genetic variation
Meiosis is a key mechanism for introducing genetic variation within a population.
This genetic variation is vital as it can lead to increased survival rates if environmental conditions change, as some individuals may have advantageous traits.
Individuals produced are genetically different from their parents and siblings.
Crossing Over (during Prophase I)
Crossing over is the exchange of segments of genetic material between non-sister chromatids of homologous chromosomes when they are paired up as bivalents.
Importance:
It results in the formation of new genetic combinations on the chromosomes.
Chromatids (and therefore the resulting chromosomes in gametes) will contain a mixture of maternal and paternal genetic information.
This means the gametes formed will be genetically different from each other and from the parent cell's original chromosomes.
Random Arrangement of Chromosomes (during Metaphase I and Metaphase II)
Metaphase I:-
Homologous chromosome pairs (bivalents) align randomly at the equator of the cell. The way one pair lines up does not affect how other pairs line up (independent assortment). This means paternal and maternal chromosomes are mixed up in terms of which pole they will eventually move to.
Metaphase II:-
Individual chromosomes (each made of two chromatids) also align randomly at the equator before chromatids separate. The orientation of which chromatid faces which pole is by chance.
Both random arrangements contribute to different combinations of chromosomes (and alleles) in the resulting gametes.
Random Fertilisation
During sexual reproduction, any sperm cell can fuse with any egg cell.
This chance fusion of genetically different gametes results in unique genetic combinations in each zygote, further increasing genetic variation among offspring.
Feature | Meiosis I | Meiosis II |
---|---|---|
Primary goal/type of division | Reductional Division: To separate homologous chromosome pairs. | Equational Division: To separate sister chromatids. (Similar to mitosis but with haploid cells). |
Starting ploidy level | Diploid (2n) parent cell. | Haploid (n) cells (from Meiosis I). |
Crossing over | Occurs during Prophase I between non-sister chromatids of homologous chromosomes. | Does NOT occur. |
Metaphase alignment | Homologous chromosome pairs (bivalents) align randomly at the equator. | Individual replicated chromosomes (each with two chromatids) align randomly at the equator. |
Anaphase separation | Homologous chromosomes separate and move to opposite poles. Sister chromatids remain attached. | Sister chromatids separate (centromeres divide), and these individual chromatids (now chromosomes) move to opposite poles. |
Chromosome structure (throughout phases) | Chromosomes consist of two sister chromatids throughout all phases of Meiosis I. | Chromosomes consist of two sister chromatids in Prophase II and Metaphase II. They become single- stranded chromosomes from Anaphase II onwards. |
Ending ploidy level (of daughter cells) | Haploid (n). The chromosome number is halved. | Haploid (n). The chromosome number remains the same as the cells entering Meiosis II. |
Number of daughter cells produced | Two daughter cells are formed from the original diploid cell. | Four daughter cells are formed in total (two from each cell that completed Meiosis I). |
Genetic makeup of daughter cells | Daughter cells are genetically different from the parent cell and from each other (due to crossing over and independent assortment). | Daughter cells are genetically different from each other (due to crossing over in Meiosis I and random alignment in Metaphase II) and from the cells that entered Meiosis II. |
TERM: Crossing over
DEFINITION: Process involving the exchange of genetic material between members of the homologous pair.
USE IN SENTENCES: Crossing over brings about variation.
TERM: Homologous pair
DEFINITION: Refers to a pair of identical chromosomes, one of paternal origin and one of maternal origin.
USE IN SENTENCE: During prophase I of meiosis, the chromosomes arrange themselves in homologous pairs.
TERM: Variation
DEFINITION: Refers to the variety of appearance shown by organisms of the same species.
USE IN SENTENCE: Variation would ensure the survival of the species.
Is the primary cause of abnormal meiosis
Nondisjunction is the failure of chromosomes