In case of cytoplasmic inheritance generally the character of only one of the two parents ( usually the

female parent) is transmitted to the progeny. As a result, reciprocal crosses exhibit consistent
differences for such characaters and there is a lack of segregation in the F2 and the subsequent
generations. Such inheritance is also referred as extra nuclear inheritance, extrachromosomal
inheritance and maternal inheritance. Genes governing the traits showing cytoplasmic inheritance are
located outside the nucleus and in the cytoplasm; hence they are referred to as plasma genes,
cytoplasmic genes, cytogenes, extranuclear genes or extra chromosomal genes.
1. Maternal Inheritance:
In certain cases, it has been observed that certain characteristic phenotypic
traits of F1, F2 or F3 progeny are not the expression of their own genes, but
rather those of the maternal parents. Such phenotypic expressions of maternal
genes (genotype) may be short-lived or may persist throughout the life-span of
the individual.
The substances which produce the maternal effects in the progeny are found
to be transcriptional products (i.e., mRNA, rRNA and tRNA) of maternal
genes which have been manufactured during oogenesis and which exist in the
ooplasm of unfertilized eggs in the form of inactive protein coated and late
translating mRNA molecules (informosomes) or inactivated rRNA and tRNA.

These transcriptional products of maternal genes produce their phenotypic

effects during early cleavage and blastulation when there occur little or no
transcription since; maternal and paternal genes of zygote remain engaged in
mitotic replication or duplication of DNA. There may be other reasons of
maternal affect which are still little understood. The maternal inheritance has
been studied in Limnaea (a snail).

Shell coiling in Limnaea. In the snails (gastropods), the shell is spirally coiled.
In most cases the direction of coiling of the shell is clockwise, if viewed from
apex of the shell. This type of coiling is called dextral. However, in some snails
the coiling of shell may be counter clockwise or sinistral. Both types of coilings
are produced by two different types of genetically controlled cleavages, one
being dextral cleavage, another being sinistral cleavage (Fig. 47.1).

There are some species of gastropods in which all the individuals are sinistral
but the main interest attaches to a species in which sinistral individuals occur
as a mutation among a population of normal dextral animals. Such a mutant
was discovered in the freshwater snail Limnaea peregra (A. Sturtevant, 1923).

Breeding and cross breeding of dextral and sinistral snails showed that the
difference between the two forms is dependent on a pair of allelomorphic
genes, the gene for sinistrality being recessive (S), and the gene for the normal
dextral coiling being dominant (S+). The two genes are inherited according to
Mendelian laws, but the action of any genie combination is visible only in the
next generation after the one in which a given genotype is found.
The eggs of a homozygous sinistral individual (SS) are fertilized by the sperm
of a dextral individual (S+S+), the eggs cleave sinistrally and all the snails of this
F, generation show a sinistral coiling of the shell. Thus, the gene of sperm (S +)
do not manifest themselve, although the genotype of the F 1 generation is S+S.
If a second generation (F2) is bred from such F1 sinistral individuals, it is all
dextral, instead of showing segregation as would be expected in normal
Mendelian inheritance. In fact, segregation does take place in the
F2 generation so far as the genes are concerned, but the new genie
combinations fails to manifest themselves, since the coiling is determined by
the genotype of the mother.
The genotype of F1 mother being S+S, the gene for dextrality dominates and is
responsible for the exclusively dextral coiling of the second generation. Only in
the F3 generation does segregation in the ratio of 3: 1 becomes apparent, since
the individuals of the F2 generation had the genotypes —1S+S+; 2 S+S, 1 SS, 1/4
of them, on the average, produce eggs developing into sinistral individuals
(Fig. 47.2).
It is easy to understand that the results of a reciprocal cross that is, of the
fertilization of the eggs of a homozygous dextral individual (S +S+) by the sperm
of a sinistral individual (SS)—will lead to a somewhat different type of
pedigree: the F, generation will be dextral (with genotype S +S) and the
F2 generation again all dextral (with genotypic ratio of 1S +S+:2S+S: ISS). The
F3 generation will show segregation among broods, just as in the cross
examined first.
ADVERTISEMENTS:

The whole case becomes clear if it is realized that the type of cleavage (sinistral
or dextral) depends on the organization of the egg which is established before
the maturation division of the oocyte nucleus. The type of cleavage is,
therefore, under the influence of the genotype of the maternal parent.

The sperm enters the egg after this organization is already established. Lastly,
the direction of coiling of shell depends upon the orientation of the mitotic
spindle of first cleavage of the zygote. If the spindle is tipped toward the left of
the median line of the egg cell, the sinistral pattern will develop; conversely if
the mitotic spindle is tipped toward the right of the median line of the cell, the
dextral pattern will develop. The spindle orientation is, thus, controlled by the
organization of ooplasm which becomes established during oogenesis and
before fertilization.
2. Extra-nuclear Inheritance by Cellular Organelles:
Chloroplasts and mitochondria and organelles that contain their own DNA
and protein- synthesizing apparatus. A widely held theory concerning their
origin proposes that they were once infectious endosymbiotic prokaryotes that
evolved such a dependence on the gene products of the host that they are no
longer able to function autonomously.

This theory has been supported by the fact that the genetic components of
these organelle are often similar to those found in prokaryotes. For example,
the chloroplasts of certain algae and Euglena contain 70S type small
ribosomes and “naked” chromosomes or DNA which is circular.

Their protein synthesis begins with the amino acid N-formyl Methionine, as
does prokaryotic protein synthesis, and their DNA-dependent RNA
polymerase is sensitive to the inhibitor rifampicin. The genetic materials of
chloroplasts and mitochondria will be transmitted to offspring almost
exclusively via the egg. Maternal inheritance due to chloroplast and
mitochondria is well illustrated by the following examples:

(a) Extra nuclear inheritance by chloroplast.

I) Variegated four o clock plant.
The cytoplasmic or extra nuclear inheritance of colour in plant by plastids was
first of all described by C. Correns in 1908 in the four o’clock plant, Mirabilis
Jalapa. In contrast to other higher plants, Mirabilis contains three types of
leaves and parts: (1) Full green leaves or branches having chloroplast, (2)
White (pale) leaves and branches having no chloroplast, (3) Variegated
branches having leukoplast in white (pale) areas and chloroplast in green
patches (Fig. 47.3).
Because, the chlorophyll pigment of chloroplast is related with photosynthesis
of food and leukoplasts are incapable to perform photosynthesis, so the white
or pale parts of plant survive by receiving nourishment from green parts.

Correns reported that flowers on green branches produced only green

offsprings, regardless of the genotype and phenotype of pollen parent and
likewise, flowers from the white or pale branches produced only white or pale
seedings regardless of genotype and phenotype of pollen parent.

The plants developing from the white or pale seedings die because they lack
chlorophyll and cannot carry on photosynthesis. Correns further reported that
flowers from the variegated branches yielded mixed progeny of green, white
(pale) and variegated plants in widely varying ratios (Fig. 47.4). These results
are summarized in Table 47.1.

The irregularity of transmission from variegated branches could be

understood by considering cytoplasmic genes (plasmagenes) of plastids. A
study of the egg during oogenesis in Mirabilis reveals that the ooplasm
contains plastids like cytoplasm of other plant cells.

If the egg cell is derived from green plant tissues, its ooplasm will contain
coloured plastids; if derived from white plant tissues, its ooplasm will contain
white plastids; if derived from variegated tissues, its cytoplasm may contain
coloured plastids only, white plastids only or a mixture of coloured and white
plastids. A study of the pollenogenesis, however, reveals that pollen contains
very little cytoplasm which in most cases is devoid of plastids. Without the
plastids, the pollen cannot affect this aspect of the offspring’s phenotype.
(c) Extra-nuclear inheritance by mitochondria:
The most important work on the genetics of mitochondria done in yeast which
was initiated by the discovery of petite mutants by B. Ephrussi (1953).
Subsequently mt DNA was studied in several organisms including plants and
animals.

(i) Petite in yeast. Yeast:

Saccharomyces cerevisiae, are single-celled Ascomycetes fungi. In the life
cycle, diploid and haploid adult alternates, the former reproducing by asexual
meiospores called ascospores, the latter by isogametes. The petite mutants in
yeast fail to grow on carbon source such as glucose and produce smaller
colonies (the “littles”) when grown on sugars such as glucose.

Since this difference can be observed only when such yeast cultures are kept in
a oxygen- containing environment; so it is concluded that petite mutants have
a defective aerobic respiratory mechanism. In other words, slow growth of
petite can be attributed to yeast cells utilization of less efficient fermentation
process.

These petites differ from wild type, called grande and are characterized by (i)
their insensitivity to inhibitors of aerobic pathways (such as cyanide), (ii)
absence of cytochromes a, a3, b and a number of other changes in
mitochondrial respiratory enzymes; (iii) incomplete development of
mitochondria; and (iv) lack of stainability of petite mitochondria.
The petite mutants can be segregational, i.e., they follow Mendelian
segregation and, therefore, presumably controlled by chromosomal genes.
They may also be vegetative, i.e., non- segregational or extra-chromosomal.
The genetic basis of petite character is a cytoplasmic factor ρ + (rho) which may
be absent or defective in petites.
3. Extra-Nuclear Inheritance by Endosymbionts:
Certain intra-cellular parasites such as bacteria and virus particles maintain
symbiotic relationship with host cells. They are self-reproducing and look like
the cytoplasmic inclusions. Sometimes they exhibit an infection like
transmission with a hereditary continuity of their own.

(iii) Kappa particles:
In 1938, T.M. Sonneborn reported that some races (known as “killers” or killer
strain) of the common ciliate protozoan, Paramecium Aurelia produce a
poisonous substance, called paramecin which is lethal to other individuals
called “sensitives”. The paramecin is water soluble, diffusible and depends for
its production upon cytoplasmically located particles called kappa.

Electron microscopic observations have shown that kappa particles are about
0.4µ long symbiotic bacteria, Caedobacter taeniospiralis; 20 per cent of kappa
bacteria of the killer strain contain a refractile protein containing “R body”
and are called “Brights”. They are infected with a virus that controls the
synthesis of toxic viral protein, the paramecin.

A killer Paramecium may contain hundreds (e.g., 400) of kappa particles. The
presence of kappa particles in the killer Paramecium is dependent for their
maintenance and replication on the chromosomal dominant gene K.
Paramecia with nuclear genotype kk are unable to harbour kappa particles.

When a Paramecium of killer strain having the genotype KK or (K +) conjugates

with the Paramecium of non-killer strain having, the genotype kk, the
exconjugants are all heterozygous for Kk gents (Fig. 47.9). The Kk genotype
suggests that both exconjugant should be killers. But this is not the case.
If conjugation is normal, i.e., lasts only for a short time, and no exchange of
cytoplasm takes place between the two, both killers and non-killers (sensitive)
are produced. However, rare or prolonged conjugation (i.e., lasting for long
time) permits mixing of cytoplasm of both conjugant’s and results killers only.
The killer trait is stable only in killer strain with KK genotype and is suitable in
sensitive strain with kk genotype.

Uses of Extra-nuclear Genome:

1. It prevents total loss of organelles due to a single mutation in nuclear gene.

2. It provides a reservoir of cytoplasmic mutations.

3. It is useful under adverse environmental condition.

Characteristics of cytoplasmic inheritance:

In case of cytoplasmic inheritance generally the character of only one of the two parents ( usually the
female parent) is transmitted to the progeny. As a result, reciprocal crosses exhibit consistent
differences for such characaters and there is a lack of segregation in the F2 and the subsequent
generations. Such inheritance is also referred as extra nuclear inheritance, extrachromosomal
inheritance and maternal inheritance. Genes governing the traits showing cytoplasmic inheritance are
located outside the nucleus and in the cytoplasm; hence they are referred to as plasma genes,
cytoplasmic genes, cytogenes, extranuclear genes or extra chromosomal genes.

Variegated 4 o clock , kappa particles, petite in yeast

1. Reciprocal differences: Reciprocal crosses show marked differences for the characters governed by
plasmagenes. In most cases, plasmagenes from only one parent, generally the female parent are
transmitted, this phenomenon is known as uniparental inheritance.
2. Lack of segregation: In general, F2 F3 and the subsequent generations do not show segregation for a
cytoplasmically inherited trait. This is because the f1 individuals generally receive plasma genes from
one parent only.

3. Irregular segregation in biparental inheritance: In some cases, plasma genes from both the parents
are transmitted to the progeny, this is known as biparental inheritance.

4. Somatic segregation: Plasma genes generally show somatic segregation during mitosis, a feature of
rare occurrence in the case of nuclear genes.

5. Association with organelle DNA: Several plasma genes have been shown to be associated with cp-
DNA or mt-DNA.

6. Nuclear transplantation: If nuclear transplantation revealas a trait to be governed by the genotype of

cytoplasm and not by that of nucleus, cytoplasmic inheritance of the trait is strongly indicated. In
nuclear transplantation, nucleus of a cell is removed and replaced by a nucleus of another genotype
from a different cell. Generally nuclei of somatic cells are transplanted into zygotes before the first
mitotic division is initiated.

7. Transfer of nuclear genome through back crosses: The nucleus of a variety or species may be
transferred into the cytoplasm of another species or variety through repeated back crossing with the
former, which is used as the recurrent male parent. Lines produced in this way are known as alloplasmic
lines since they have nuclei and cytoplasms from two different species. A comparison of the various
characters of alloplasmic lines with those of the corresponding euplasmic line (lines having nuclei and
cytoplasms from the same species) demonstrates cytopalsmic effects, if any on these traits. This
technique is time consuming, but extremely powerful; it has been extensively used to study the
cytopalsmic differentiation during evolution.

8. Mutagenesis: Some mutagens eg: Ethidium bromide are highly specific mutagens for plasma genes
while nuclear genes are not affected by them.Induction of mutation by such agenets in a gene indicates
it to be a plasma gene.
9. Lack of chromosomal location: In many organism, extensive linkage maps of nuclear genes are
available. If a gene is shown to be located in one of these linkage groups, it cannot be a plasma gene.
Failure to demonstrate the location of a gene in one of the linkage groups of an organism is indicative of
its cytoplasmic location, but this is highly tentative.

10. Lack of association with a parasite, symbiont or virus: In many cases, a cytoplasmically inherited
character is associated with a parasite, symbiont or virus present in the cytoplasm of the organism. Such
cases cannot be regarded as cases of cytoplamic inheritance. Only those cytoplasmically inherited
characters which are not associated with parasites, symbionts or viruses can be regarded as governed by
plasma genes.

Linkage, Recombination, and Crossing Over.

Genes that are on the same chromosome travel through meiosis together; however, alleles of
chromosomally linked genes can be recombined by crossing over.

Linked Genes Do Not Assort Independently

Linkage Phases: Coupling and Repulsion

Crossing Over Occurs in Prophase of Meiosis I.during zygotene co is initiated during pachytenee co
procededs nd during diplotene co is completed.

Linkage between genes is detected as a deviation from expectations based on Mendel’s Principle of
Independent Assortment. • The frequency of recombination measures the intensity of linkage. In the
absence of linkage, this frequency is 50 percent; for very tight linkage, it is close to zero.

Recombination is caused by a physical exchange between paired homologous chromosomes early in

prophase of the first meiotic division after chromosomes have duplicated. • At any one point along a
chromosome, the process of exchange (crossing over) involves only two of the four chromatids in a
meiotic tetrad. • Late in prophase I, crossovers become visible as chiasmata.

Chromosome Mapping
Linked genes can be mapped on a chromosome by studying how often their alleles recombine.

Observable Outcomes of Crossing Over

• Formation of chiasmata in late prophase. • Recombination between genes on opposites sides of the
crossover point.

The distance between two points on the genetic map of a chromosome is the average number of
crossovers between them.

The genetic maps of chromosomes are based on the average number of crossovers that occur during
meiosis. • Genetic map distances are estimated by calculating the frequency of recombination between
genes in experimental crosses

Recombination frequencies less than 20 percent estimate map distance directly; however,
recombination frequencies greater than 20 percent underestimate map distance because multiple
crossover events do not always produce recombinant chromosomes. • An average of one chiasma
during meiosis is equivalent to 50 centiMorgans of genetic map distance.

In Drosophila, genes can be localized on maps of the polytene chromosomes by combining recessive
mutations with cytologically defined deletions and duplications. • A deletion will reveal the phenotype
of a recessive mutation located between its endpoints, whereas a duplication will conceal the mutant
phenotype. • Genetic and cytological maps are colinear; however, genetic distances are not
proportional to cytological distances.

Linkage Analysis in Humans

Pedigree analysis provides ways or localizing genes on human chromosomes.

• Linkage between human genes can be detected by analyzing pedigrees. • Pedigree analysis also
provides estimates of recombination frequencies to map genes on human chromosomes.

• The coefficient of coincidence ( c) is the ratio of observed double crossovers to expected double
crossovers. c = 0.0006 / 0.0095 = 0.063 • Interference (I) = 1 - c I = 1 - 0.063 = 0.937

Evolutionary Significance of Recombination

 • Meiotic recombination is a way of shuffling genetic variation to potentiate evolutionary change. • In
sexually reproducing species, recombination can allow favorable alleles of different genes to come
together in the same organism.

Genetic Control of Recombination

• The products of many genes are involved in recombination. • Crossing over does not occur in
Drosophila males. • The amount of recombination varies among species.

• Recombination can bring favorable mutations together. • Chromosome rearrangements, especially

inversions, can suppress recombination. • Recombination is under genetic control.