1.

Cell Division

* Introduction * The need for new cells * The Cell Cycle * Types of Cell Division 1. Mitosis 2. Meiosis * Summary

Introduction 1. Definition of a Cell: 2. Growth and Development: 3. Organization: 4. Function of a cell:

The Need for New Cells

1).Growth 2).Replacement 3).Repair 4).Reproduction

The CELL CYCLE

The Cell Cycle

To divide, each new cell has to undergo a phase of GROWTH and DEVELOPMENT. It is after this phase that the cell attains enough maturity and can complete all metabolic processes that are necessary before entering the phase of cell division. This preparatory phase of cells is termed as Inter-phase followed by cell division MITOSIS

INTERPHASE
It is the long phase in a body / somatic cell. Before dividing, each cell has to attain the same size as its mother cell. It has 3 sub-stages: a). G-1 Phase b). S Phase (Synthesis Phase) c). G-2 Phase

G-1 PHASE
Its an initial growth phase or first growth phase of the cell. The amount of cytoplasm increases and cytoplasmic organelles like mitochondria etc. replicates.

S-PHASE (Synthesis PHASE)

- Chromosomes are duplicated by the synthesis of more DNA

G-2 PHASE

This growth phase is shorter. Protein required for cell division are synthesized. Cell increases in size. Cells prepares itself to enter the next phase of division Mitosis The nucleus of cell enlarges and a definite number of fine, coiled thread like structures called chromosomes become visible. In fact at the beginning of mitosis the nuclear material has already doubled. This stage is called INTERPHASE, also called the Resting Stage when in fact the cell is synthesizing the chromatin substance.

CELL CYCLE

What happens in INTERPHASE?

Cell size increases. Nucleus of dividing cell enlarges to its maximum size. Chromosomes replicate i.e. a copy of each chromosome is created. Nucleolus is very clear. The energy for cell division is stored as proteins. Certain substances necessary for initiation of cell division are formed.

Cell Division
When the cell has reached certain level of growth it enters the division phase Where through a sequence of events the mature parent cell divides into two daughter cells. These phases are of various durations in different cells, but the basic outline of sequences is the same. Cell division consists of two major stages: 1). Karyo-kinesis: Nuclear division where nucleus divides into two. 2). Cyto-kinesis: Entire cells splits separating each nuclei.

Types of Cell Division

Cells in animals and plants divide in one of the two ways described below: 1). Mitosis: that takes place in body cells resulting in growth and development. 2). Meiosis: that takes place in gamete producing cells resulting in gametes that fuse forming zygote.

MITOSIS
Mitos = Thread and Osis = State Cell division process was first described by SCHLEIDEN. This process takes place in Body or Somatic Cells of organisms. The basic principle is The Chromosome number of cells is not altered (not changed) in this process. Its just duplication. Its a complex process where mother / parent somatic cell divides to form two identical daughter cells.

Phases of Mitosis

1). Prophase 2). Metaphase 3). Anaphase 4). Telophase

1). Prophase
- Pro means First

- Nucleus is visible with large, shortened much like spring & thickened Chromosomes. - Nuclear Membrane & Nucleolus disappear. - Centrioles two minute bodies outside the nucleus separates & forms spindle fibres or astral rays & attaches to centromere of chromosomes. - Most plant cells do not have centrioles but still have a spindle network

As PROPHASE ends following features are noticed

Chromosomes: thick, clearly visible, each chromosomes split into 2 chromatids & remain in contact throughout at the centromere. Nucleolus & Nuclear Membrane starts disappearing. Continuous spindle fibres join both centrioles. Chromosomes attach to spindle by centromeres and start moving towards equatorial position.

KINETOCHORE is the site of attachment of spindle fibres. CENTROMERE is the center of attachment of the chromatids

2). Metaphase
- Meta means After - Short phase - Chromosomes becomes most distinct. - Duplication of Chromosomes occurs before prophase, but becomes more evident during metaphase. - Chromosomes arrange themselves at the equatorial plane.

3). Anaphase

- Ana means Back - Very active phase of Mitosis. Main features are a). Homologous daughter chromosomes (2 chromatids) of metaphase now separate and begin to move in the opposite direction towards the pole with the contraction of spindle fibres. b). Chromosomes bend around the centromere showing as V or J or L shaped structure based on the length of its arms.

4). Telophase
- Telo means End - As soon as the chromatids come together at the ends of the spindle network, the telophase begins.

The various changes observed during TELOPHASE are:

1). Chromosomes reach opposite poles. Spindle network disintegrates but centrioles remain. 2). Chromosomes uncoil, lengthen & thus becomes thinner turning into a network of less distinct chromatin threads. 3). Nuclear membrane & Nucleolus starts forming around 2 sets of chromosomes in both the newly formed daughter cells. 4). With the formation of nuclear membrane, 2 nuclei are formed & the process of nuclear division or KARYO-KINESIS is over. This is followed by CYTO-KINESIS.

Cyto-Kinesis
- At this point the cytoplasm between the two daughter nuclei constricts i.e. a furrow starts forming in the plasma membrane at the middle. - This deepens towards the interior of the cell until the cytoplasm is split into 2 similar daughter cells. - In plant cells constriction is not observed during cytokinesis.

Difference in Plant and Animal Mitosis

Plant Mitosis 1. Centrioles are absent in Plant Mitosis. 2. No contractile ring is found. 3. No cell constriction is formed. 4. In Telophase there is a formation of Cell Plate for the process of cytokinesis. 5. Nuclear and Cell division are found in special regions called Meristems. Animal Mitosis 1. Centrioles are present in Animal Mitosis. 2. Formation of contractile ring between 2 nuclei of the dividing cell 3. Cell constriction is formed in the late Telophase for the process of Cytokinesis. 4. No cell plate is formed. 5. Cells divide everywhere, all the time

Importance of Mitosis
- Helpful in growth of tissues, organs and thus organism. - Used for repair of damaged tissues and organs. - It is the method by which lower animals reproduce. - Hereditary characters are maintained by the replication of chromosomes.

Characteristics of Mitosis
- It takes place in Somatic / Body cells. - It helps in tissue growth. - 2 equal similar daughter cells are formed. - Chromosome number is preserved. - Daughter cells are identical to parent cell.

Meiosis
- Meiosis means To reduce. - It is a special kind of cell division that takes place in reproductive / germ cells only. - Cells in the reproductive tissues multiply in number by mitotic divisions. - The final division that produces mature gametes however, are not mitotic. - In fact these division are of the reducing type. - The number of chromosomes in the cell is halved in gametes.

- When these haploid gametes fuse to form

a zygote the diploid chromosome number of organism is restored. - In man, meiosis occurs in testes producing sperm and in female it occurs in ovaries producing ova. - In plant kingdom meiosis occurs in anthers and ovaries of angiosperms (flowering plants) producing pollen grains and ovules respectively.

1). Heterotypic

or 1st Meiotic Division

In Meiosis the cell divides in two sequences as below

- Here the diploid chromosome number of parent cell is reduced to half (haploid) in daughter cells.

2). Homotypic or 2nd Meiotic Division

- This is normal mitotic division with no change in the number of chromosome.

1). Heterotypic Division (Meiosis-I)

It is also known as First Meiotic Division Here the chromosome number is halved. It consists of following phases 1. Prophase I 2. Metaphase I 3. Anaphase I 4. Telophase I

All these phases be summed up as under:a). Pairing of Chromosomes: Homologous chromosomes pairs seem to attract each other. They are similar chromosomes-one each from either parent. Each pair of homologous chromosomes is also known as tetrad because it has four chromatids. b). Crossing Over: While the homologous chromosomes are in the tetrad formation the chromatids seem to cross each other at one or at more points. The chromatids actually break and rejoin at these points of intersection known as Chiasmata. Alongs with parts of chromatids exchanged, genetic material gets recombined into new combinations of genes. c). Nuclear envelope, nucleoli etc disappear and the chromosomes move apart to the opposite poles and 2 new cells are formed. Thus at the end of first meiotic division, 2 haploid daughter cells are form from a diploid parent cell.

Significance of Crossing Over

- During Prophase-I crossing over takes place. - The maternal and paternal homologous chromosomes of an organism pair up and exchange certain portions of their chromatids. - This crossing over is the basis of genetic variations in organisms. - This is why all offspring of 2 organisms are not alike. - Crossing over makes the genetic information in each haploid cell unique. - Each chromosome pair can crossover at many points more than once.

2). Homotypic Division (Meiosis-II)

- This division is identical to Mitosis. - Here the chromosome number (haploid) is maintained and at the end, four haploid daughter cells are produced. - The phases of second meiotic division are divisible into Prophase-II, Metaphase-II, Anaphase-II and TelophaseII. - Cytokinesis in meiosis varies greatly. - Sometimes two daughter cells produced at end of Meiosis-I undergo only Karyo-kinesis and go through Meiosis-II before dividing into four haploid daughter cells. - At other times Cytokinesis occur at end of Meiosis-I and thus two haploid daughter cells produced under go Meiosis-II.

Characteristics of Meiosis
Occur in germ cells only. Results in formation of gametes. Results in formation of four haploid daughter cells. Chromosome number of parent cell is halved. Daughter cells differ from parent cell.

Significance of Meiosis
Due to Meiosis, chromosome number is reduced to half in gametes and chromosome number of species is maintained. Due to crossing over in Prophase-I, genetic variations occur. Due to Meiosis, the zygote on fertilization has one maternal and one paternal chromosome in each homologous pair.

Summary
Cell division is of 2 types in higher plants and animals 1). Mitotic 2). Meiotic Amitosis is the simplest cell division found in group Protista. E.g. Amoeba, Paramoecium etc.. first: nucleus divides (karyo-kinesis) second: cytoplasm divides (cyto-kinesis) Mitosis - it is helpful in growth and repair of tissues - it results in 2 daughter cells identical to parent cells in all aspects - it takes place in somatic / body cells - it takes place in one phase.

Summary
Meiosis - it takes place in 2 phases. - it occurs in germ or reproductive cells. - it results in the formation of 4 daughter cells different from parent cells. - it results in formation of gametes for reproduction. - it is called reduction division because chromosome number of parent cell is halved in daughter cells. - Crossing over in Meiosis is responsible for genetic variations in individuals.

CHAP. 2. Structure of Chromosomes

1. Introduction 2. Discovery of Chromosomes 3. Basic structure of Chromosomes 4. Significance of Chromosomes 5. The DNA Strand 6. Importance of DNA 7. Summary

Introduction
Chromosomes are the chromatin material inside the nucleus. Chromosomes are so called because they take up certain basic dye stains very readily. Chromos = colour and soma = body Chromosomes consist of Histone proteins and DNA (deoxy-ribonucleic acid).

 DNA carry information for synthesis of various proteins required for physiological functions. These stretches of DNA are referred to as GENES Chromosomes are best observed at Metaphase stage.

Colchicine (0.3 ml of 1 % Colchicine)

It is used to stop cell cycle during Metaphase. It is used To check defects in lengths of arms To ensure attachments of spindle fibres for correct separation. Colchicine is used in chromosome Karyotype analysis.

Definition of Chromosome
Chromosomes are chromatin material thread like structure present inside the nucleus made of DNA and Histone proteins and are important in transfer of genetic material (genes) from one generation to the future generation. Also termed as Hereditary material.

Discovery of Chromosomes
E.Strasburger: Observed thread like structures during cell division. Balbiani: Described rod like structures in nucleus before cell division. W. Fleming: Described splitting of chromosome called stained material Chromatin Waldeyer: Coined the term Chromosomes Sutton & Boveri: Said chromosomes are physical structures and transmitters of hereditary traits

TELOMERE: A TELOMERE is a region of repetitive DNA at the end of a chromosome, which protects the end of the chromosome from deterioration. Its name is derived from the Greek words telos "end" and mers "part". The telomere regions deter the degradation of genes near the ends of chromosomes by allowing for the shortening of chromosome ends, which necessarily occurs during chromosome replication.

CENTROMERE: A Centromere is a region of DNA typically found near the middle of a chromosome where two identical sister chromatids come closest in contact. It is involved in cell division as the point of mitotic spindle attachment. The sister chromatids are attached all along their length, but they are closest at the centromere.

HISTONES: Histones are strongly alkaline proteins found in eukaryotic cell nuclei, which package and order the DNA into structural units called nucleosomes. They are the chief protein components of chromatin, act as spools around which DNA winds, and play a role in gene regulation.

Basic Structure of Chromosomes

1. Chromosomes are thread like bodies present in nuclei of animals and plants. 2. They are covered with a SHEATH made of proteins. 3. Inside this sheath is present a granular matter referred as matrix. 4. Inside the matrix there are two threads called Chromonemata which are the subunits of chromatids & are present during Prophase.

5. At Metaphase, the chromosome consists of two symmetrical strands called Chromatids. 6. Each chromosome possess a distinct constriction called Centromere (Primary constriction), divides into 2 parts and it gets attached to the spindle network. 7. The ends of chromosome are termed as Telomeres and it protects from deterioration or from being destroyed. 8. Some chromosomes have another constriction called Secondary constriction

Chemical composition of chromosome

Substance
DNA

Amount
40 % approx

Histone proteins Non-Histone proteins

50 % 8.5 %

Metallic ions like Mg++, In traces Ca++ etc.

DNA packaging in Chromosome

Chromosome: The packaging and coiling

The chromatin fibre is actually a very long DNA strand coiled again and again. The coiling is strictly according to the plan. The DNA strand makes loops around a polymer of 8 histone protein molecules. Each such histone & DNA unit is called a nucleosome This coiled strand is coiled repeatedly, much like a telephone cord till it becomes the chromosome familiar.

Chromosome Number
The number of chromosomes is constant for a particular species. Each species has its own chromosome no.. Size of organisms has no relation with its chromosome number e.g. Butterfly has 446 chromosomes than Man (46)

Common Name

Chromosome No.

Animals:
1. Round worm 2. Mosquito 3. Fruit Fly 4.Human Beings 2 6 8 46

5.Butter Fly
6.Dog 7.Monkey 8.Mouse

446
78 54 40

Plants:
1. Bread Mould 2. Onion 2 16

3. Wheat
4. Sugar Cane 5. Grass

42
80 265

Chromosome Size
Chromosome size is usually measured at metaphase when they are clearly visible. Plant generally have larger chromosomes as compared to animals. Chromosomes of Monocotyledonous plants are larger than Dicotyledonous plants. Chromosomes have a size range of 0.20 0.50 m Chromosome vary in size from species to species and remain relatively constant for a particular species. Human chromosomes are up to 6 m in length.

Chromosome Shape
Usually observed at mitotic anaphase. The shape of chromosome may be: 1). Telocentric: centromere at 1 end makes chromosome rod shaped. 2). Acrocentric: centromere near 1 end divides it into very short and a long arm. 3). Submetacentric: centromere near centre gives L or J shaped structure. 4). Metacentric: centromere at centre giving V shaped structure.

 MONOCENTRIC: If chromosome has only 1 centromere then it is called MONOCENTRIC. DI-CENTRIC: while if there are 2 centromeres, it is called DI-CENTRIC HOLOCENTRIC: If centromere is diffused then the chromosome is called HOLOCENTRIC.

Depending upon the position of centromere

 POLY-CENTRIC: if there are more centromeres, the chromosomes is known as POLY-CENTRIC. ACENTRIC: If centromere is absent, the chromosome is known as ACENTRIC

Karyotype: A species is characterized by a set of

chromosomes whose features are constant in individuals of the same species. This set of characteristics is called a Karyotype. OR The appearance of the chromosomal makeup of a somatic cell in an individual / species (including the number, appearance, arrangement, size and structure of the chromosomes)

Idiogram: A Karyotype is depicted by a diagram

usually. Here chromosomes of a haploid set are arranged in decreasing order of size. This is called an Idiogram.

Karyotype of a Human:

Chromosomes in Man
The chromosome number in Man is 46 i.e. 23 pairs. Out of 23 pairs, 22 pairs are common in both males and females. These are called Autosomes. 23rd pair of chromosomes is a small pair and it determine the sex in the man. In male, 22 pairs are autosomes and 23rd pair are sex chromosomes that are denoted by X & Y (22pairs of A + XY). Similarly in females, 22 pairs are autosomes and 23rd pair are sex chromosomes but they are identical i.e. there are 2 X chromosomes (22 pairs of A + XX).

- The X and Y chromosomes are different in shape and size. - Y chromosome is J shaped and is smaller than X chromosome. But they pair up during meiosis.

Significance of Chromosomes
1. Chemicals of chromosome remains stable even though the constituent chemicals of cytoplasm of a cell are broken down. 2. During Cell division, no other material of cell is shared as exactly as chromosomes. 3. They are the main source of chemical in formation that determines that a cell should become like its parent cell. 4. They give the characteristic features of its species during development.

5. The nuclei of gametes carry a set of paternal and maternal haploid chromosomes which unite to form diploid zygote and give rise to a unique individual. 6. The number of chromosomes is also important. Sometimes addition or deletion of chromosomes in zygote can cause serious disorders in the individual (MUTATION). 7. Sex chromosomes are also of great significance as they determine the sex of an individual.

DNA Strand
Chromatin material is basically the DNA strand wrapped around Histones forming nucleosomes. This coiled strand is further coiled to form chromatin filament. DNA itself consists of two filaments or strands helically coiled with each other. It is also called a macromolecule because it is a very large single molecule. The detailed structure of DNA was worked out by Watson & Crick in 1953.

Watson and Crick DNA model

- Each DNA strand has a complex chemical structure. - It is made up small building units called nucleotides. - Each spiral of DNA has 10 nucleotides. - Each nucleotide consists of 3 subunits (one molecule each of pentose sugar, phosphate and nitrogenous base).

-The Phosphate and Sugar molecule are arranged one above the other alternately while the base is oriented inwards, attached to ribose sugar. - The base of one strand joins with the base of the complementary strand with Hydrogen-bond forming a spiral staircase where the bases forms the steps. -The nitrogenous base join only with its complementary base thus Adenine (A) joins with Thymine (T) through double bond & Cytosine (C) joins with Guanine (G) through triple bond i.e. A=T and CG

Main Features of DNA

There are 2 strands running anti-parallel to each other & are spirally arranged around an axis so it is called a double helical arrangement. Each DNA strand is made up of sugar, base & phosphate. Sugar are pentose type and bases are of 2 types: 1). Purines: Adenine (A) & Guanine (G). 2). Pyrimidines: Cytosine (C) & Thymine (T). Bases are connected with each other through Hydrogen Bonds i.e. A=T and GC.

Total number of Purines = Pyrimidines i.e. A + G = T + C Base ratio i.e. (A + T) / (G + C) is constant for a given species. This ratio is called Dissymmetry Ratio. Bases are inside and sugars are outside and 2 sugars are connected with Phosphoric Acid. DNA has a property of Duplication. Each replicates and from each replicated DNA another new DNA is formed. This is called Replication of DNA. Before Replication of DNA, Hydrogen bonds between the bases are broken.

Importance of DNA
Very important because it is Hereditary material. It acts as director of Protein Synthesis. Some DNA of chromosome forms nucleolus. DNA in presence of enzymes form mRNA which acts as messenger.

DNA Replication
During Cell Cycle chromatin material duplicated during inter-phase in order to prepare for mitosis. In this process, DNA double helix open up at one end. When the 2 strands become free at one end, new nucleotides start forming complementary pairs and thus new strands start forming around each unraveling old strand sequentially.

DNA Replication
In the replication process the parent DNA molecule unwinds and unzips. Then each of the old strands serves as the template for the new strands. Each daughter DNA molecule receives one parental strand and a newly synthesized strand. This type of DNA replication is commonly called as semi-conservative replication, because here each daughter DNA molecule receives one parental strand.

DNA replication requires following three steps:

Unwinding: - The old strand that makes up the parent DNA molecule is unwound and unzipped (weak hydrogen bonds between the paired bases are broken). The hydrogen bonds between the molecules are broken with the help of Helicase enzyme. Complementary base pairing:- With the help of enzyme DNA polymerase new complementary nucleotides (that are always present in the nucleus) are positioned adjacent to each other opposite to the parent DNA template.

Joining:-This step also requires DNA polymerase enzyme for joining the complementary nucleotides. Each daughter molecule contains an old and a new strand.

 Replication of DNA strand has an origin point at which the replication is initiated. It may also have a terminus point where the replication of DNA is terminated. A ' Y ' shaped structure is formed at the point of replication which is called as "replication fork ". Replication of DNA may be unidirectional or bidirectional. During DNA replication, one nucleotide is joined with another. Each nucleotide already has a phosphate group at the 5' carbon atom and it is joined to 3' carbon atom of the sugar molecule. Thus the synthesis of DNA molecule takes place in the 5'->3' direction with the help of DNA polymerase enzyme. But this causes a problem at the replication fork where only one of the new strands run in the 5'->3' direction ( the template for this strand runs in the 3'->5' direction). This strand is called as LEADING STRAND.

 The template for the other strand runs in the 5'->3' direction, but DNA synthesis could only take place in 5'->3' direction. Thus, this poses a problem and due to this reason synthesis has to begin in the replication fork. Replication of the 5'->3' parental strand begins as soon as the DNA molecule unwinds and unzips replication of this strand is discontinuous. The replication of this strand results in segment called OKAZAKI FRAGMENTS.

Discontinuous replication takes more time than continuous replication therefore the new strand in this case is called the LAGGING STRAND.

DNA Replication

Summary

Chromosomes are thread like structures in nucleus. They are studied generally at Metaphase stage of Mitosis. Chromosomes are made up of DNA & proteins. Chromosome number (2n) of species is constant. Chromosomes may be rod shaped / V / J / L shaped. DNA is the hereditary material. It act as director of Protein synthesis. There are 2 nucleic acids DNA & RNA. Man has 46 chromosomes i.e. 23 pairs. Chromosomes Common to males and females are referred to as Autosomes (22 pairs in human). Chromosome determining the sex of an individual are called sex chromosomes (XY in males & XX in females).

1). Introduction 2). Gregor Johann Mendel 3). Mendels Experiments 4). Terminology 5). Monohybrid Cross 6). Di-hybrid Cross 7). Mendels Laws 8). Exceptions to Mendels Law 9). Sex Chromosomes in Human 10). Determination of Sex 11). Sex Linkage 12). Sex Linked inheritance of diseases

Introduction
It is commonly observed that children resemble their parents. An individual inherits the characteristic features of the species from its parents. This resemblance is because the offspring inherits certain Factors from the parents. All the characters that offspring can inherit from the parents are called Hereditary Characters and the process of their transfer is called Heredity. Thus height, types of leaves, flower color, shape, seed structure etc..are hereditary characters in plants.

- In the same manner curly hair, eye color, color blindness etc.in man are the hereditary characters. - These factors are now know as genes that are located at specific points on chromosomes. - These genes control a particular Character or Trait. - Heredity: means transmission of genetically based characteristics from parents to offspring. - Each gamete has a complete haploid set of these genes. - Thus, the zygote inherits one half of its genetic material from either parent. This is the one reason why children resemble both the parents.

 Although offspring resemble their parents, they are rarely identical to them and they show some dissimilarities from their parents. Such dissimilarities in a species are called . These differences are caused by genetic / inherited variations and environmental / non inherited differences. Only inherited variations can be passed to offspring and have an influence in changing the genetic constitution of the species.

Gregor Mendel
Know as Father of GENETICS Born in 1822 in Czechoslovakia. He carried out expts on garden pea for 8 yrs. On the basis of his results, he derived a few fundamental principles. He presented his results in a paper Expts in Plant Hybridization before Brunn Natural History Society in 1865. Mendel repeated his work with some other plants also but failed to repeat his results. Hugo de Vries, Carl Correns & Erich von Tschermak working independently rediscovered his work and brought Mendels expts to the limelight.

Reasons for Mendels Success

He chose the garden pea for his expts. Pea plants were easy to cultivate, had a short lifespan and showed self-pollination as well as easily distinguishable characters. This helped him. His success was also due to his meticulous planning and laborious observations and record that enable him to have enough data to be analyzed statistically.

Mendels Experiments & Techniques

Hybridization (cross breed) involves crossing of two individuals with different desired characters to produce an offspring that has desired characters of both parents.

New terms
Homozygous: refers to having identical alleles for a single trait. Eg. The gene for seed shape in pea plants exists in two forms, one form or allele for round seed shape (R) and the other for wrinkled seed shape (r). A homozygous plant would contain the following alleles for seed shape: (RR) or (rr).

 Heterozygous: refers to having two different alleles for a single trait. E.g. The gene for seed shape in pea plants exists in two forms, one form or allele for round seed shape (R) and the other for wrinkled seed shape (r). A heterozygous plant would contain the following alleles for seed shape: (Rr). Organisms have two alleles for each trait. When the alleles of a pair are heterozygous, one is dominant and the other is recessive. Using the previous example, round seed shape (R) is dominant and wrinkled seed shape (r) is recessive. Round: (RR) or (Rr), Wrinkled: (rr).

Picture showing Homozygous and Heterozygous

Mendels experiment
He cultivated the pea plants with different characters and studied till he obtained TRUE BREEDING / HOMOZYGOUS plants (TT). E.g. Homozygosity for tall plants was tested by growing seeds of tall plants [ gametes of pure breed tall plants are TT and for dwarf plants are tt ]. Before experimenting he considered some characters for his experiments.

Characters Mendel considered are

1. Stem length: Tall / Dwarf 2. Flower position: Axial / Terminal 3. Flower color: Red / White 4. Pod color: Green / Yellow 5. Pod shape: Inflated / Constricted 6. Seed shape: Round / Wrinkled 7. Cotyledon color: Yellow / White

The next step was HYBRIDIZATION

He chose 2 parents with alternate forms of a character. Eg. Red / White flower color, Tall / Dwarf stem length etc.. Then he removed the anthers of the plant, he designated female, dusted its stigma with pollen of desired male and bagged it. Such a cross was called because it involved cross between alternate forms of one character only. The offspring was F1 generation.

Further
# Then, Mendel made a reciprocal cross where the parents in the earlier cross were reserved i.e. male as female and vice versa. # In all these, the offspring demonstrated Red flowers showing dominance of Red color. # The F2 generation was obtained by bagging complete flowers of F1 generation enabling them to self pollinate and produce seeds.

TERMINOLOGY
Term
GENE ALLELE

Explanation
The basic unit of inheritance for a given character Alternate forms of the same gene which determine contrasting characters

Example
Height of the plant Tall (T) or Dwarf (t)

Homozygous Diploid condition where TT or tt

both the identical alleles are

Heterozygous Diploid condition where Tt

both the different alleles are

Phenotype Genotype Dominant

The physical or external and Tall, observable expression of a Dwarf character The genetic expression of a TT, tt, Tt character in terms of alleles written in symbols An allele which expresses TT or Tt itself externally when (both represent present in homozygous or tallness: T is heterozygous conditions dominant)

An allele which expresses t or dwarf itself externally when present in homozygous condition but remains suppressed in heterozygous condition. Monohybrid When only one pair of Tall x Dwarf alleles is used during (TT) x (tt) hybridization.

Recessive

The generation produced by (P) TT x tt F1 Generation crossing two parental stocks is called first filial (F1) Tt generation.

The generation (P) TT x tt F2 Generation produced by crossing two individuals of F1 (F1) Tt x Tt generation is called second filial (F2) TT Tt Tt tt generation.

Test Cross

A cross between the (P) tt x Tt (F1) recessive parent and an individual of F1 generation.

Definition
Variation: Small differences between individuals due to inheritance Mutation: Sudden changes in one or more genes in the progeny, which normally may not have existed in the parents, grand parents or even great grand parents. E.g. Albinism (total loss of skin pigment)

Monohybrid Cross
Monohybrid cross is one where the parents used for hybridization differ in only one pair of contrasting characters or allele. Eg: Take Homozygous / pure TALL (TT) & pure DWARF (tt) plant. The initial plant materials are called parents or P. These are cross pollinated using emasculation and bagging. The seeds obtained are sown and plants so obtained form the F1 or first filial generation.

 All plants of F1 generation are tall, the dwarf character does not appear. The character appearing in F1 generation is DOMINANT and one that is suppressed is RECESSIVE. When plants of F1 generation i.e. Tall hybrids are allowed to self pollinate the F2 generation is predominantly tall with some dwarf plants. Always the ratio of 3 tall to 1 dwarf plant approximately is observed without any exception. On allowing F2 plants to self pollinate dwarf plants produce only dwarfs, 1/3rd of tall plants produce only tall plants and remaining 2/3rd of hybrid tall plants again produce tall and dwarfs in 3:1 ratio.

Di-hybrid Cross
In a dihybrid cross, 2 pairs of alleles or contrasting characters are considered in parents. In his expt., Mendel used cotyledon color and seed shape of pea as 2 pairs of allele He followed the same method as in monohybrid cross of the two parents one was a true breeding dominant (yellow colored cotyledons and round seeds, YYRR) and the other was a true breeding recessive (green colored cotyledons and wrinkle seeds, yyrr).

1). YYRR: Yellow Cotyledons Round Seeds 2). YYrr: Yellow Cotyledons Wrinkled Seeds 3). yyRR: Green Cotyledons Round Seeds 4). rryy: Green Cotyledons Wrinkled Seeds

 This gave an approximate phenotypic ratio of 9:3:3:1, which is know as di-hybrid ratio. These results show that though dominant and recessive alleles were present in same plant in generation P, in F2 they separated independently form new combination of Yyrr and yyRR. Thus, each pair segregate independent of each other resulting in new combinations.

MENDELs LAW
1). LAW OF DOMINANCE: In a given cross between 2 organisms with pure contrasting alleles or characters only one allele is expressed in F1 generation; that character that appears is called dominant and the other recessive.

Law of Dominance

2). LAW OF SEGREGATION: When a pair of contrasting alleles come together due to hybridization in a hybrid individual, the 2 characters remain together without mixing or losing their purity. They segregate (separate) in the gametes of the hybrid.

3). When the parents differ in two or more alleles then the inheritance of one pair of alleles does not depend on the other pair.

EXCEPTION OF MENDELs LAW

1). Unlike Mendels F1 generations, in a few cases F1 generation has an intermediated phenotype between dominant and recessive alleles e.g. in or heterozygous F1 Rr flowers are pink as compared to homozygous P (RR) red and P (rr) white.

Incomplete Dominance

Incomplete Dominance

2). Linkage: Genes on same chromosomes are said to be linked. The closer they are stronger the linkage. Linked genes are inherited together.
Mendel was lucky that none of his 7 alleles showed linkage or his law of independent assortment would not have been formulated.

3). Multiple Allelism: Each character may have more than 2 alleles e.g. rabbits fur color has alleles. This cant be explained by Mendels laws which state that each character has 2 alleles only. 4). Gene Interactions: (Epistasis) Sometimes a character (e.g. complexion in humans) is controlled by more than 1 gene or factor. This again is an exception to the Mendelian statement that each character is controlled by one gene / allele.

Gene Interaction

1). Dominant and recessive characters can be found. 2). A hybrid with desired characters can be produced easily on the basis of Mendels laws. 3). Crops can be improved. 4). Pure recessive characters can be used where needed. 5). Genotypes and phenotypes of next generation can be predicted even before cross is made.

Sex Chromosomes in Humans

The chromosome number in Man is 46 i.e. 23 pairs. Out of 23 pairs, 22 pairs are common in both males and females. These are called Autosomes. 23rd pair of chromosomes is a small pair and it determine the sex in the man. In male, 22 pairs are Autosomes and 23rd pair are sex chromosomes that are denoted by X & Y (22pairs of A + XY). Similarly in females, 22 pairs are Autosomes and 23rd pair are sex chromosomes but they are identical i.e. there are 2 X chromosomes (22 pairs of A + XX).

Sex Chromosomes in Humans

The X and Y chromosomes are different in shape and size. Y chromosome is J shaped and is smaller than X chromosome but they pair up during meiosis. From the given information it is clear that maleness is due to presence of one X and one Y chromosome and femaleness is presence of two X chromosomes.

Determination of Sex
During meiosis, the sex chromosomes are also reduced to half like Autosomes forming a haploid gamete. In female, ova will have one X chromosome + 22 Autosomes making the haploid chromosome number 23. But in male, sperms half will have one X chromosome + 22 Autosomes and the other half will have one Y chromosome + 22 Autosomes.

 In humans and many other species males produce two types of gametes i.e. X and Y, hence they are Heterogametic. Females produce only one type of gametes i.e. X, hence they are Homogametic.

Sex determination in Human

Sex Determination in Human

Sex Linkage
Sex chromosomes (X & Y) carry sex determining genes i.e. male & female. But they also carry certain other genes that control some important traits. Such characters / traits that are controlled by genes occurring on sex chromosomes are called sex-linked characters. The genes controlling these characters are referred to as sex-linked genes and the inheritance of these genes is called sex-linkage or more commonly sexlinked inheritance.

SEX-Linked inheritance of Diseases

Certain genes which occur on the X chromosome are more likely to affect a male than a female. This is clearly evident in the case of a certain form of colour blindness and haemophilia, two important sex-linked inherited diseases of human.

 It is a sex-linked inherited human disease. People suffering from this disease are not able to distinguish between the colour red and green. The gene for red-green colour blindness is carried on the X-chromosome. Normal vision is dominant over red-green colour blindness. the condition was often called daltonism, although this term is now used for a type of colour blindness called deuteranopia.

Haemophilia
Haemophilia is an another X-linked inherited disease. The people suffering from haemophilia are unable to synthesize a normal blood protein called AntiHaemophilic Globulin (AHG) that helps in clotting. As a result, haemophiliacs can bleed for a long time even from a very small cut. That is why haemophilia is also called Bleeders disease. The gene causing Haemophilia is also a recessive gene located on the X chromosome similar to that of redgreen color blindness.

Haemophilia chart

Haemophilia chart

Other X-linked Factors

It include Brown Enamel on teeth. Sexual characters like beard and muscular physique in men, mammary glands, wider pelvis in women are not due to sex-linked genes. Rather they are different expressions of the same genes. It is due to the presence of the X or Y chromosome that creates an environment of maleness or femaleness causing to the sex chromosomes present in an individual.

 A very few abnormalities are thought to be linked to the Y chromosome but now even they are open to more research. It should be remembered that the X-chromosome of a man always comes from his mother while a girl inherits one X-chromosome each from her mother and father. Thus, a man can never transfer a sex-linked gene directly to his son because the son inherits only the Y-chromosome from his father.

 Father of Genetics: Gregor Mendel Mendels law: 1). Law of Dominance 2). Law of segregation 3). Law of independent assortment. According to Mendel each characters has two alleles: Dominant and Recessive Law of Segregation: it states that when a pair of contrasting alleles come together in an organism they remain pure and separate again in the gametes. Law of independent assortment: it states that when the parents differ in two or more alleles then inheritance of a pair of allele is independent of others.

 There are exceptions to Mendels law e.g. Incomplete Dominance, linkage, Multiple Allelism and Gene Interactions. Mendels law are important because genotypes and phenotypes of next generation can be predicted even before cross is made. Chromosomes common to male and female individuals are called Autosomes. Chromosomes that determine the sex of a diploid individual are called sex chromosomes.

 In humans, there are 46 chromosomes (23 pairs of chromosomes: 22 pairs are Autosomes and 23rd pair is Sex chromosome, XY in male and XX in female.) Characters controlled by genes on sex chromosomes are called sex-linked characters. Two important sex-linked inherited human diseases are haemophilia and colour blindness. They are both due to a recessive gene present on X-chromosome. X-chromosome linked recessive diseases are less common in female because of their heterozygosity.