wou PRINCIPLES OF INHERITANCE AND VARIATION HEREDITY: (hereditas = heirship) Is the transmission of characters from parents to offspring . INHERITANCE:. Is the process by which characters/traits pass from one generation to the next VARIATION:- Is the degree of differences in the progeny and between the progeny and the parents. GENETICS:- is the branch of,piology that deals with the study of heredity and variations. The term was introduced by William Bateson in 1906, Humans knew as early as 8000-1000 BC that one of the causes of variation was hidden in sexual reproduction, ‘They selected plants & animals with desirable characters present in the wild population & selectively bred them. Eg:- Artificial selection & domestication from wild cows — well known Indian breeds like Sahiwal Cows in Punjab were obtained by knowledge of inheritance of characters and variation but without the idea of scientific basis. MENDEL’S LAWS OF INHERITANCE 1) Gregor Mende! conducted hybridization experiments on garden peas for seven years (1856-1863) and Proposed the laws of inheritance. 2) For the first time, statistical analysis (laws of probability) and mathematical logic were applied to problems in biology. 3) He took two years (1857-1859) for checking that the varieties of Pea (pisum satireum) were pure breeding, 4) Mendel took one or two characters at one time for his breeding experiments while his predecessors often studied all the traits simultancously. 5) Mendel studied the inheritance of a character for three or more generations. 6) He performed reciprocal crosses and raised large progenies. 7) Mendel experimented on a number of plants for the same trait and obtained hundredsof off springs. The large sampling size gave credibility to his results, 8) He took only those traits which did not show linkage, interaction or incomplete dominance for his studies. 9) He formulated theoretical explan were further tested for their validity. 10) Mendel kept a complete record of every cross. Subsequent self breeding and the number of seeds produced. Pea plants produce large number of seeds, 11) True breeding pea plant varieties, ions for interpreting his results and the explanationslendel selected seven pairs of conjuastine characters / traits in pea plant (Pisum +e hi ativan variees iain one" character with contrasting traits as shown in the table below SLNO lies a 3 4 Inflated/constricted [S| Ped colour Ef ere? Green/yellow 6 Seed shape Round/ wrinkled [7 Seed celour Yellow/green MENDEL’S WORK:- After careful consideration of a number of possible plants, he chose garden peas as the subject for his experiments for the following reasons:~ 1) Garden pea plants were available in quite a number of pure breeding varieties with pairs of sharply contrasting characters. 2) They have perfect flowers (bisexual) which are ordinarily self fertilized but can be cross pollinated by human intervention, 3) Pea plants being annuals and easily cultivable ensured quicker results. 4) Hybrids resulting from a cross were fertile. 5) Results were simple and understandable because pea plants were tiploid. MENDEL’S EXPERIMENT! Inheritance of one sengfaonohybrid cross, ‘© Across involving one trait isa monohybrid cross. Mendel selected stem height as the trait for study: ‘ Mendel crossed a pure breeding tall Pea plant with a pure breeding dwarf pea plant. (Py / first parental generation) ‘The resulting seeds were collected & sown; the hybrid plants generated were all tall like one of the parents. This generation is called the 1* filial progeny / generation or F). The Fj plants were self fertilized, Both tall and dwarf plants were obtained in the F> generation in the ratio 3:1 Only one of the parental traits was expressed in the F; generation while at the F; stage, both the traits were expressed - tall & dwarf, none were of in - between height. The traits did not show any blending atF; or F) plants can be understood from a diagram called Punnett square developed by a British geneticist Reginald C Punnett. It is a graphical representation to calculate the probability of all possible genotypes of offspring in a genetic cross. The possible gametes are written on two sides, usually the top row & left columns, all possible combinations are represented in boxes below in the squares, which generates a square output form. Pure bred tall pea plant. x ‘Pure bred dwarf pea plant TT x tt P, generation [ pers —— t IT aes n on Fsion 7 Tt re, sede Be represented in a Punnett’ Square. Phenotype all eat, ‘Tall plant as ‘Tall plant On selfing F; Tt x Tt ‘on gametogenesis On fusion . Gametes (on Fusion ee. F2 generation Be represented ina Punnet’s square, Phenotypic ratio : tall : dwarf Sansuinotypic ratio: TT : Tt: tt I aie Phenotypic ratio : Tall : Dwarf Yrall (ATT + % Te): % dwarf (tt) ‘The genotypic ratio of 1:2:1 can be expressed as Ya condensable to the form of the binomial expression (ax + by)? (has the gametes bearing genes T ratio of TT : Tt : tt is mathematically ort in equal frequency of 4) The expression is expanded as given below: “TT+YTe+ Mitt (CATH %1)?=(AT4 W)C ATH AD) Though the genotypic ratios can be calculated using mathematical probability, by simply looking at the phenotype of a dominant trait, it is not possible to know the genotype. ‘The genotype of he FI/F2 generation tall plant can be determined by test cross. Based on these observations Mendel proposed that something was being stably passed down unchanged from parent to offspring through the gametes, over successive generations. He called * these things as factors. Now we call them as genes, Genes therefore are units of inheritance. They contain information that is required to express a particular trait in an organism. Genes which code for a pair of contrasting traits are known as alleles i.e., they are different forms of the same gene 1) Gene:- Is defined as the genetic factor that controls one trait/one characteristic of ‘an organism. 2) Alleles: - The different forms of a gene that determine alternate traits/characteristics are called alleles, An allele then is one of a pair (or more) of different forms of a given gene. 3) Phenotype:- Visible expression of a traiticharacters which are expressed externally. 4) Genotype:- Is the actual gene constitution of an ifidividual. 5) Homozygous:- When two members of a given allelic pair are alike, the individual is said «to be a homozygote or is homozygous for that character. ent br th 6) Heterozygous:- When two members of an allelic pair are unlike, the individual is a heterozygote or is said to be heterozygous. Eg:- T t 7) Dominant & Recessive:- of the two contrasting characters & dissimilar factors, only one is expressed in a heterozygote or dominates the other, this is called the dominant factor expressed in capital letter, Eg:- Tall (T)While the other character that does not express itself is called recessive represented by small/lower case letter. Eg: dwarf (t) 8) Hybrid:- Is the offspring of two parents that differ in one or more characters. 9) Monohybrid cross:- Is the cross which involves two individuals which differ in one pair of contrasting characters. Eg:- Tall pea plant against dwarf, TT xt 10) Monohybrid:- Is the offspring of the monohybrid cross Eg:- heterozygous tall (TY) 11) Dihybrid Cr Is the cross involving two individuals which differ in two pairs of contrasting characters. Eg:- Shape of seed & colour of séed in pea plants RRYY x omy Round & yellow wrinkled & green Test Cross: Is a cross between __hybrid>(of unknown genotype) & homozygous recessive parent. 64 dosinutle POwa vont Pocurlapfe - hybrid x Regessive parent Eg:- A test cross where a plant with violet colour flower (W) is dominant over white colour flower (w) Diagrammatic representation of the cross. Donineed : Plenatyye i Homejyfowt recessive ean Homeosygour ncerive ore loon ww al @ia@® Oo © | mo] se rae Violet | Vioket white | white Ratt ALL flowin ase lak ears na sol ball, of the [lowers lasterpactetion: Unskisown flower woe whe it bomopygous dominaet 7 neBased on his observations on monohybrid crosses, Mendel proposed the principles / Laws of Inheritance. Law of Dominance:~ IL states that in a cross between pure bred parents for a pair of contrasting characters, only one character is expressed in the F, generation. This is due to the dominance of one character over the other. The former is called dominant & the latter recessive. i) Characters are controlled by discrete units called factors. ji) Factors occur in pairs. ‘i) Ina dissimilar pair of factors one member of the pair dominates (dominant) the other (recessive). The law of dominance is used to explain the expression of only one of the parental characters in 8 monohybrid cross in the F; and the expression of both in the F2, It also explains the proportion of 3:1 obtained at the Fy, Law of segregation: (Law of purity of gametes) Law states that the two contrasting alternatives of a character or allelic factors of dominant und Tecessive nature, through remain together for a long time, do not contaminate or mix with each other but segregate at the time of gametogenesis, so that each gamete receives only one factor either dominant or recessive. This law is based on the fact that the alleles do not show any blending and that both the characters are recovered as such in the F, generation though one of these is not seen at the F1 Seneration. Though the parents contain two alleles during gamete formation, the factors or alleles of a pair segregate from each other such that a gamete receives only one of the two factors. : Incomplete Dominance: Mendel’s law of dominance does not ‘occur universally, several cases have been reported where dominance is incomplete in the F1 generation. ' Definition:- The appearance of an intermediate character in a hybrid obtained by crossing two ure breeding varieties with contrastin; characters is called Incomplete dominance. Fe The Inheritance of flower colour in the dog flower(snapdragon or Antirthinum Species) When a.pure breeding plant for red flower was crossed with a pure breeding plant for white Flowers, the FI hybrids produced (neither red nor white but) pink flowers, indicating that red colour is not completely dominant over white but is partially dominant. On selfing F1, red, pink & white flowered plants were produced in the ratio 1:2: 1. Here the genotypic ratio was lik any monohybrid cross but phenotypic ratio is also 1 : 2: | (unlike 3:1 in other cases) .Psion eentinanic ea a RR x rr On gametogenesis | oe ‘on selfing FL F2 generation can be represented ina checker board Phenotypic ratio : red : pink : white La 1 Genotypic ratio: RR: Rr : rr L+a:4 Explanation of the concept: 1). Ina diploid organism, there are two copies of each gene i.e. as a pair of alleles. 2) These two alleles need not always be identical asin a heterozygote 3) One of them may be different due to some change that it has undergone which modifies the information that particular allele contains. a Eg: 1) A gene that contains the information for producing an enzyme. There are two allelic forms of this gene. 2) The normal allele produces the normal ‘enzyme that is needed for the transformation of a substrate S. - 3) Theoretically:- the modified allele could be responsible for production of i) the normal/less efficient enzyme or )) anon ~ functional enzyme or i) no enzyme at all 1) In the first case, » i.e. it will ion of substrate’ Such equivalent allele pairs are very common, 2) But if the allele produces a non functional enzyme or no enzyme, the phenotype may be affected.3) The phenotype/trait will only be dependent on the functioning of the unmodified allele. ‘The unmodified (functioning) allele which represents the original phenotype is the dominar 5) Hence int allele and the modi in the eg, above, the recessive trait is seen due to non functional enzyme or ied allele is generally the recessive allele. because no enzyme is produced. Co-Dominan We have examples where F; resembles both parents. Eg. Different types of RBCs that determine ABO blood grouping in human beings. ABO blood groups are controlled by the gene I which determines the kind of Sugar polymers that protrude from the surface of the plasma membrane of the RBC. This gene I has three alleles. 11" and i. I 1® produce a slightly different form of the sugar while alJele i does not produce any sugar. Since humans are diploid, each person has any two of the three alleles, 1 & 1° are completely dominant over i When I* & i are present, only 14 expresses (because i does not produce any sugar)when I? & i are present, I” expresses But when I* & I” are present together, both express their own types of sugars, A &B. This is because of co-dominance. Since there are 3 different alleles, there are 6 possible combinations of these 3 alleles & therefore 6 different genotypes of the human ABO blood types, AIA, 141, 11, 1), AT? & ii, Table showing genetic basis of blood groups in human population. Allele from Allele from Genotype of Blood types of parent! Parent 2 offspring Offspring i 7 ry anf u rm Twit AB sche i "i A Pr T THe AB Be ie et B r i Fi B i i ii ° ABO blood grouping is also an example of multiple alleles ic, more than 2 alleles governing the same character.Since in a human, only 2 alleles can be Present,multiple alleles can be found only when population studies are made. More than 2 allelic forms of a gene Controlling the same character and occupying the same locus ‘on a homologous chromosomes are called multiple alleles, Such a condition where a gene exists in several forms is called multiple allelism/gene polymorphism. Therefore dominance is not an autonomous feature of a gene (or the Product that it has the information for). It depends as much on the Bene product and the procuiction of a particular phenotype from this product. It also depends on the particular phenotype that we choose to examine in case more than one phenotype is influenced by the same gene. Eg. Starch synthesis in pea seeds is contrélled by one gene. It has 2 alleles B & b. BB homozygotes produce large sfarch grains effectively. bb have lesser efficiency & produce smaller starch grains: Afler maturation; BB seeds are round & bb ave wrinkled. Bb produce round seeds & so B seems to be the dominant allele, but starch graine produced by Bb are insermesiate in size s0 if the phenotypertrait of size of starch grain is considered, the alleles show incomplete dominance. Inheritance of two genes: Mendel conducted the Dihybrid cross to study the inheritance of two pairs of contrasting Gharicters, He crossed a pure breeding pea plant for yellow colour and eeund nature of seeds with pure breeding pea plant for green colour and wrinkled nature of seeds. ‘The FI generation obtained from this cross had yellow & round seeds indicating that yellow Bolour of seed is dominant ‘over green & round nature of seed is dominant over wrinkled, These results were identical to those that he got when he made separate monohybrid crosses ieties of pea plants in the F2 B cecanas-The ones with yellow and round seeds, yellow & wrinkled, green & round green & wrinkled in the ratio 9: In the Fa generation, yellow wrinkled & green round are new varieties not seen either in the Parental or F; generation. This results inthe formation of 4 types of gametes namely @ @ @© On selfing F1, 4 x 4 = 16 combinations are possible as represented in the Punnett’s checker board,Pare breeding pea plant . Pane breeding pea plant for round ¥ yellow seeds for green W wrinkled seeds Pr gestion RRYY . uyy on fone yacsie Gemetel RY) ey) On fusion FA yenention, —_ R4Vq Phenotype ~ round yellow Rr Yy x Rr Yy Gametes of F, MOO® © 2 generation obtained can be represented in & Punnetts checker board. On selfing F, F; generation Phenotypic ratio_ Fogeneration Phenotypic ratio: (4 types of phenotypes) Round yellow : wrinkled yellow : round green : wrinkled green 9 : 3 2 3 2 1 Genotypic Ratio (9 types of genotypes) ratio 2:2:2:4 2: 132 2 : 1 Based on observation on dihybrid crosses, Mendel proposed the Law of Independent Assortment, which states that “When two pairs of traits are combined in a hybrid, segregation of one pair of characters is independent of the other pair of character for “ In a cross involving two ot more pairs of contrasting characters or factors, the inheritance of ‘one pair of factors is independent of the’other pair of factors.”] _ The appearance of 2 new combinations round green & wrinkled yellow in the F2 generation Proves that every character is inherited independent of every other character.