THE EXTRANUCLEAR

INHERITANCE

Muhammad Rizwan Anwar

IUB Bahawalpur
 INTRODUCTION
• Extra nuclear inheritance is defined as non mendelian
inheritance, usually involving DNA in replicating
mitochondria and some other organelles of cell.
• The genes that have been called cytoplasmic genes,
extrachromosomal genes, or extranuclear genes are
located on a unique kind of chromosome inside
cytoplasmic organelle.
• Commonly defined as transmission through the
cytoplasm (or things in the cytoplasm, including
organelles) rather than the nucleus
• Generally only one parent contributes

• Organelle heredity

Organelles that contain chromosomes

• Chloroplasts and mitochondria

• Infectious heredity
– Involves a symbiotic or parasitic association with a
microorganism

Criteria for extranuclear inheritance

 VARIEGATION IN LEAVES OF HIGHER
PLANTS
• In 1909, carl correns reported some surprising resuls
from his study on four O clock plants ( Mirabilis
jalapa).

• The blotchy leaves of these variegated plants

showed patches of green and white tissues, but
some branches carried only white and some carried
only green leaves.
• Variegated-shoot phenotypes in four o’clocks

Mixed chloroplasts
White/green

Mutant chloroplast
White
non-photosynthetic

Normal chloroplast
Green
photosynthetic
• They may be intercrossed in a variety of different
combinations by transferring pollen from one flower
to another
• Two features are surprising

1. There is difference between reciprocal crosses

2. Phenotype of maternal parent is solely responsible
for determining the phenotype of all progeny
(This phenomenon is called maternal inheritance)
• How such curious results could be explained?

• The difference in leaf color was known to be due to

presence of either green or colorless chloroplast

• The inheritance pattern might be explained if these

cytoplasmic organelle are somehow genetically
autonomous and further are never transmitted via
the pollen parent
• For an organelle to be genetically autonomous, it
must have its own genetic determinants.

• Thus this organelle has its own genome

• The process of segregation and recombination of

organelle genotype is called “cytoplasmic
segregation and recombination (CSAR)”
Chloroplasts are inherited via the
seed cytoplasm

3 types of eggs (female):

Normal
Mutant
Mixed

Assumption:

Pollen (male) contributes no

information
 POKY NEUROSPORA
• In 1952, Mary Mitchell isolated a mutant strain of
Neurospora that she called poky.

• Poky Neurospora is:

1. Slow growing
2. It shows maternal inheritance
3. It has abnormal amount of cytochromes
It is possible to cross some fungi in such a way that one
parent contributes the bulk of cytoplasm to the progeny
and this cytoplasmic contributing parent is called female
even though no true sex is involved

Maternal inheritance for the poky phenotype was

established i the following crosses

Poky(female) x wild type (male) → all poky

Wild type (female) X poky (male) → all wild type
• Mutant [poky] Neurospora possess altered mtDNA cytochrome complements that
lead to slow growth.

• [poky] phenotype is inherited with the cytoplasm.

protoperitheca (sexual mating type)

conidia
(asexual mating type)

, Reciprocal crosses of poky and wild-type Neurospora.

• But where in the cytoplasm is the mutation carried?

1. Slow growth suggest lack of ATP energy, which is

produced by mitochondria
2. There are abnormal amounts of cytochromes and
cytochromes are known to be located in the
mitochondria

These clues led to the conclusion that in this case

mitochondria are involved and mutation is in the
mtDNA.
 THE KILLER TRAIT IN PARAMECIUM
• 1930s,----- sonneborn observed that when two
stocks of P.aurelia are mixed together, some of them
die.

• Certain strains of P. aurelia are called killer strains

because they release paramecin, a substance toxic to
sensitive strains
 BASIS OF KILLING ACTION
• The killing action was due to the possession by killer
cells of a cytoplasmic particle that was named kappa
• A cell lacking kappa is sensitive to the effect of kappa

• Sensitive stocks are immune to kappa’s killing action

during conjugation
• For a cell to be a killer, it must posses the kappa
particles in cytoplasm
• However, to maintain kappa , the paramecium must
posses a dominant allele (K) in nucleus.

• A cell homozygous for recessive (kk) is sensitive

• A cell that carries the dominant (KK) may lack kappa

is also sensitive
• Paramecium has diploid micronuclei
• At the time of conjugation it contain two haploid
micronuclei that were formed following meiosis
• It behaves as gametes
• Micronuclei are exchanged between mating cells by
way of conjugation tube.
• The micronuclei received from a mate unites with
the stationary one and restore the diploid state of
micronucleus.
• Following a mating between killer (KK) and sensitive
(kk), both F1 cells become Kk.
• After later divisions and self fertilization,
homozygous KK and kk cells arise
• To become a killer a sensitive cell of genotype KK
must gain kappa paticles through cytoplasmic
exchange at the time of mating
• This comes by prolong mating and cytoplasmic
bridge
 THE PETITE MUTATION IN YEAST
• Cells carrying a petite mutation grow slowly and
form tiny colonies on agar in contrast with the larger
ones of the wild phenotype

• These petites posses enzyme defects and are

deficient in aerobic respiration
 LIFE CYCLE OF YEAST
• It is a unicellular organism

• Haploid cells can be classified into either of two

mating types, + or –

• The diploid zygote formed from fusion of a + and a –

cell may grow by budding to produce a diploid colony
• The diploid cells can also be stimulated to undergo
meiosis
• The cell then enlarge and forms four haploid nuclei,
each of which becomes the nucleus of a spore
• The meiotic cells behave like an ascus or sac and thus
four spore are called ascospores
• Two of the ascospores will be mating type + and two
will be –
• This 2:2 indicates that the genetic determinants are
nuclear
 TYPES OF PETITE MUTATION
1. Nuclear petites
2. Neutral or recessive petites
3. Suppressive petites
 NUCLEAR PETITES
• These petites behave in the expected mendelian
fashion

• A cross of petite with wild produce wild diploid cells

• The ascospore yield a 2:2 segregation of wild type to

petite
Chapter 15 slide 27
 NEUTRAL OR RECESSIVE PETITES
• A cross of neutral petite with a wild produce diploid
cells that are normal in phenotype
• When sporulation is induced, the ascus yields spores
that produce only wild type cells
• The segregation is thus 4:0
• The petite phenotype is disappeared and not appear
in successive generations
• Clearly the neutral petite is not behaving in
mendelian way
Chapter 15 slide 29
 Further clarification
• Yeast was treated with acriflavin
• Almost whole population of normal cells can be
transformed into petite
• No known mutagen can affect nuclear genes to such
an extent that all the population become mutated
• This indicates that determination for petite mutation
reside in cytoplasm
 SUPPRESSIVE PETITE
• It also behave in non mendelian fashion

• When it is crossed with wild type , the result

depends when the sporulation is induced

• If ascospore formation takes place very soon after

the zygote forms, it is found that most of the asci will
give a segregation of 0:4, that is all the spores will
give rise to petites.
• The zygote if immediately plated out on agar after
the mating, form diploid colonies that are also petite
• In contrast to neutral petite, it is as if the wild type
were tending to disappear.

• However different results can be obtained from the

same cross

• mtDNA of cytoplasmic petites has undergone some

sort of alteration
 CHLAMYDOMONAS
CHLOROPLAST MUTATIONS
• Unicellular alga
– Haploid
• Mating gives diploid cell that immediately
undergoes meiosis to form haploid cells
– Single chloroplast with 50 copies of cpDNA
• mt+ and mt- strains
• strS and strR strains (streptomycin resistance)
 Offspring of str and str Crosses
S R

• always have str phenotype of mt+ parent

– Only mt+ parent donates cytoplasm

• But 50% of offspring mt+ and 50% mt-

– mt encoded by nuclear gene
strS and strR Crosses
 SHELL COILING IN SNAIL

• Hermaphroditic snails
• Some shells have right-handed (DD or Dd) coiling
while others have left-handed (dd)coiling
• Reciprocal crosses (reverse mail and female
genotypes) of true-breeding snails
– Offspring phenotype depends upon maternal
genotype—not maternal phenotype
• This happens because the genotype of the mother’s
body determines the initial cleavage pattern of the
developing embryo
• These Segregation ratios would never appear in
organelle genes
• The term maternal effect can be used for the cases
like the shell coiling example in order to distinguish
them from organelle based inheritance
 THE “ENDOSYMBIONT THEORY”
• This theory was given by lynn margulis in 1970’s
• “mitochondria and chloroplast originated more than
a billion years ago when ancient precursors of
eukaryotic cells engulfed and established a symbiotic
hereditary relationship with some bacteria. The
primitive cells carrying a mitochondrion-like or
chloroplast-like bacteria would havw gain an edge in
the fierce competition for energy and eventually
evolved into complex eukaryotes”.
 THE MOLECULAR EVIDENCE FOR THE
THEORY INCLUDE THE FOLLOWING
FACTS
1. Both mt DNA and ct DNA have their own DNA, which
replicates independently of the nuclear genome
2. Like the DNA of the bacteria, mt DNA and ct DNA are
not organized into nucleosomes by histones
3. Mitochondrial genomes use N-formyl methionine and
tRNA-fMet in translation
4. Inhibitors of bacterial translation, such as
chloramphenicol and erythromycin, block
mitochondrial translation but have no effect on
eukaryotic cytoplasmic protein synthesis.
 Factors against the theory:
• Mitochondria and chloroplasts only code for a few
proteins. Most of the proteins found in the
organelles are actually coded for by the nuclear
DNA. (Did the organelle DNA jump to the nuclear
DNA in evolutionary history?)

• Mitochondrial and chloroplast DNA have introns, a

phenomenon never seen in prokaryotes.(Did this
characteristic jump from the nuclear DNA to the
organelle DNA?)

• In modern symbioses, there is no good evidence

for gene transfer between endosymbiont and the
host.
Comparisons shows that

•Mitochondrial genomes are derived from a common

ancestor of present-day gram-negative non-sulfar
purple bacteria

•Chloroplast genomes are derived from cyanobacteria

(formerly referred to as blue green algae)
 GENE TRANSFER FROM ORGANELLE
TO NUCLEUS
• Some of the genes required for oxidative
phosphorylation and photosynthesis reside in the
nuclear genome

• These may have been transferred from organelle to

nucleus

• Why?
• How?
• The deletion of the redundant sequences might have
occurred when organelle genes encoding a
biosynthetic pathway critical for autonomous growth
were discarded or lost from the organelle because
the nuclear genome of the host encode its own
version of the pathway
• The engulfed cells may have not only lost genes but
also contributed coding sequences to the host cell:
the sequence could have encoded enzymes that
added to or replaced proteins encoded by the genes
of the nuclear chromosome
 MECHANISM OF GENE TRANSFER

• Gene transfer occurs through an RNA intermediate or by

movement of pieces of DNA
• In many plants, the mitochondria genome encodes the
COXII gene of the mitochondrial electron transport chain
• In other plants, the nuclear DNA encodes that same gene
• in several plant spp where the nuclear COXII gene is
functional, mt DNA still contains a recognizable, but non
functional, copy of the gene (that is a COXII pseudogene)
• Remarkably the mt DNA gene contains in intron,
while the nuclear gene does not.
• Geneticist have interpreted this finding to mean that
the COXII gene transferred from mt DNA to nDNA via
an RNA intermediate.
• The RNA would have lacked the intron, and when the
mRNA was copied into the DNA and integreted into
chromosome in the nucleus, the resulting nuclear
genome also had no intron
 THE STRUCTURE AND FUNCTION OF
MITOCHONDRIA AND CHLOROPLAST
• Mitochondria and chloroplast are the organelle of
energy conversion that carry their own DNA
• Mitochondria are sites of the Krebs cycle and an
electron transport chain that carries out the
oxidative phosphorylation of ADP to ATP
• Chloroplast are the sites of photosynthesis . The
capture, conversion and storage of solar energy in
the bonds of carbohydrates
 MITOCHONDRA
• Powerhouse of cell
• In human nerve, muscle and liver cells have
abundant mitochondria
• It is two membrane structure (outer and inner)
• The inner membrane has many infoldings called
cristae and is studded with enzymes of the electron
transport chain and ATP synthesis
• Tightly sequenced inside the inner membrane is a
core compartment called matrix
• Matrix contain many enzyme systems

• It also contain one or more circles of mitochondrial

DNA

• There are two stages by which mitochondria help to

convert food into energy
1. Mitochondria employ Krebs cycle to metabolize
pyruvate and fatty acid and produce the high energy
electron carriers NADH and FADH2.
2. In the second stage, four multi subunits enzyme
complexes (I,II,III, IV) which are embedded in the inner
membrane, harness the energy in the high energy
electrons carried by NADH and FADH2.

• The process by which they harness this energy is

oxidative phosphorylation
• A set of reactions requiring oxygen that create portable
packets of energy in the form of ATP.
 CHLOROPLAST
• Chloroplast have an outer membrane, inter
membrane space, and inner membrane enclosing a
core compartment(stroma)

• Stroma contains chloroplasts DNA and various

enzyme systems
 THE GENOMES OF THE
MITOCHONDRIA
• Mitochondrial DNA lies within the matrix of the
organelle, where it appears in highly condensed
structures called nucleoids
• Variation in the number of mitochondria, nucleoids
and mtDNA molecules are regulated by complicated
means that researchers don't yet understand
• In general mitochondria double in size and then
divide in half in each cell generation
• The replication and division of mtDNA can occur throughout
the cell cycle independent of nuclear genome replication
• Some molecules replicate many times and some not replicate
• This is decided randomly
• This is one cause of mitochondrial segregation
• Size of mtDNA varies widely.

• Humans and other vertebrates 16.5 kb

– (all of the mtDNA codes gene products)

• Yeast 75 kb
• Plants ~100 kb to 2 Mb
 HUMAN MITOCHONDRIAL DNA
CARRIES CLOSELY PACKED GENES
• Mt genome size---------- 16.5 kb
• 0.3% of cells DNA
• Circular DNA molecule
• Carries 37 genes
• 13 genes code for polypeptide subunits of the
protein complexes for oxidative phosphorylation
• 22 are tRNA genes
• The remaining 2 genes are for the lager and small
rRNAs found in mitochondrial ribosomes
• A significant feature of human mt genome is
the compactness of its gene arrangement
• The genes are adjacent or slightly overlap

• No nucleotides between them or no introns within

them
• The reason for this compactness is not yet known
Physical map of the human mtDNA
 THE LARGER YEAST MT GENOME
CONTAINS SPACERS AND INTRONS
• The mitochondrial genome of the yeast is more than four
times linger than human and other animal mtDNA
It is due to
1. Long intergenic sequences
2. Introns

• Long A-T rich sequences called spacers separate the gene

in yeast mtDNA and account for the more than half of
the additional DNA
• Introns the second DNA lengthening element , form
about 25% of the yeast mt genome
THE GENOMES OF THE CHLOROPLAST
• Chloroplast DNA contains many more genes than mt
DNA
• These genes are closely packed
• They contain introns
• Shape is circular
• Chloroplast genomes occur in multiple copies and carry
lots of non-coding DNA.

• Complete chloroplast sequences have been determined

for several organisms (tobacco 155,844 bp; rice 134,525
bp).
maize mitochondrial
genome
 COOPERATION BETWEEN THE
ORGANELLE AND NUCLEAR GENOMES
• The maintenance and assembly of functional
mitochondria and chloroplast depends on gene products
from both the organelle and nuclear genome
• For example cytochrome c oxidase, the terminal protein
of the mitochondrial electron transport chain is
composed of 7 subunits
• 3 of which are encoded by mt genes, whose mRNAs are
translated on mitochondrial ribosomes
• The remaining 4 are encoded by nuclear genes whose
mRNAs are translated on ribosome in the cytoplasm
Many proteins
encoded by nuclear and RNAs ….
genes have products
transported to
mitochondria
Plant mitochondria contain
chloroplast genes - suggesting
that genetic transfer occurs
between the two organelles
• mtDNA contains genes for:

• tRNAs
• rRNAs
• cytochrome oxidase, NADH-dehydrogenase, & ATPase subunits.

• Mitochondria’s genetic information also occurs in the nuclear DNA:

• DNA polymerase, replication factors

• RNA polymerase, transcription factors
• ribosomal proteins, translation factors, Additional cytochrome oxidase,
NADH, ATPase subunits.

• %G and A (2-ring structures) content and densities differ between light (L: CT-
rich) and heavy (H: GA-rich) strands.

• mtDNA genes occur on both strands.

• Functions of all human mtDNA ORFs are assigned

 TRANSCRIPTION AND TRANSLATION
IN ORGANELLES
• mRNAs from the mtDNA are synthesized and translated
in the mitochondria.

• Gene products encoded by nuclear genes are

transported from the cytoplasm to the mitochondria.

• Mammalian and other vertebrate mtDNAs are

transcribed as a single large RNA molecule
(polycistronic) and cleaved to produce mRNAs, tRNAs,
and rRNAs before they are processed.
Translation of the mtDNA genome
• Specialized mt initiation factors (IFs), elongation factors
(EFs), and release factors (RFs) are used for translation.

• AUG is the start codon (binds with fMet-tRNA like

bacteria).

• Only plants use the “universal” genetic code. Codes for

mammals, birds, and other organisms differ slightly.

• Extended wobble also occurs in tRNA-mRNA base-pairing

(22 tRNAs are sufficient rather than 32 tRNA needed for
standard wobble).
• Cyclohexamide can inhibit protein synthesis by
ribosomes in the cytosol but does not affect the
ribosomes of the organelle

• Chloramphenicol and erythromycin can affect the

mitochondrial ribosome and shut off any translation
that may result from their activities but not affect
the ribosomes of the cytosol
• From such inhibition studies following information was obtained

• Organelle contain information in its DNA coded for specific rRNA

of the organelle

• It also have genes for its tRNAs

• Genes for Ribosomal protein and aminoacylsynthetase are

present in nucleus
• ATPase which is bound to inner membrane of the
mitochondria , is composed of 10 polypeptide
subunits and function in oxidative phosphorylation
• Some of ATPase subunits are made in cytosol, others
in the organelle
• Cytochrome oxidase--- 7 polypeptide subunits
• 3 larger one are made in mt
• 4 smaller one in cytosol
 HOW MANY COPIES
• More than one copy of organelle DNA is present
• The number of copies varies among species
• It may even also vary with in species e.g. leaf cells
have more chloroplast and hence more copies of
DNA
• 2-50 copies in yeast
• 4-10 copies in human , mouse, rat
• Even with the multiple copies , the amount of mt
DNA in a mammalian cell is less than 1% of the total
amount of cellular DNA
• In plants, however, with their larger mitochondrial
genomes and in which 20-40 copies may exist, an
appropriate % of the cellular DNA (15%) may be
accounted for by organelle
• Both mitochondrial DNA and the chloroplast DNA are
typically circular molecule
• In some protozoans ____ paramecium, for
example_______ the mtDNA is linear
• Both the mt DNA and ct DNA are double stranded
molecule
• Unassociated with proteins(histones) and
unbounded by any membrane
• Organelle DNA usually differs sufficiently in its G+C
contents from nuclear DNA
• One study shows the following results

Mt DNA of yeast Nuclear DNA

Density g/cm3 1.683 1.699

GC% 21 40
• The replication of mt DNA is unaccompanied by a
proof reading mechanism
• Mitochondrial DNA polymerase lacks the capacity to
proof read
• Mutations can accumulate much more rapidly
• The multiple copies may offset the effect of lack of
DNA repair In organelle
• In addition to DNA organelle also posses components
for the synthesis of proteins
• Both kinds of organelle contain ribosomes
• Ribosomes of mitochondria are composed of two
subunits of unequal size
• The intact ribosome varies in sedimentation value
from 55S to 80S
• The ribosomes of chloroplast are much less variable than
mitochondria
• Composed of two unequal subunits
• Value of 70S have been obtained from many sources
• Smaller subunit____ 30S
• Larger subunit_____ 50S
• Closely resemble bacterial cell ribosomes
• The ribosomes of both organelle contain RNA
• These ribosomal RNAs of chloroplast are very similar to
those of bacterial cells
• In addition to DNA and ribosomes, organelle also contain
other machinary
• But this is quite distinct from that of present in cytosol
• DNA polymerase
• tRNAs for different amino acids
• Aminoacyl synthetase
• RNA polymerase
• Both enzymes posses a formylase, an enzyme that
convert methionine to n-formyl methionine, as well as
an initiating tRNA, tRNAf-met
RESEMBLANCES BETWEEN ORGANELLE
AND BACTERIAL PROTEIN
SYNTHESIZING SYSTEM
1. Occurrence together of transcription and
translation
2. Presence of formylase
3. Components of organelle system respond similarly
to those agents that inhibit nucleic acid and
polypeptide synthesis in prokaryotes
4. components of organelle and prokaryotic protein-
synthesizing system (tRNAs, various enzymes) are
interchangeable in in vitro investigation and can
substitute for each other in translation
Comparison of codon recognition by
mammalian and yeast mitochondrial
translation system
Code in Code in
mitochondrial mitochondrial
translation translation
system system

codon Universal mammals yeast

codon
UGA CT trp trp
AUG ile met met
AGA arg CT arg
AGG arg CT arg
CUU leu leu thr
CUC leu leu thr
CUA leu leu thr
CUG leu leu thr
 MITOCHONDRIAL DNA HAS A HIGH
RATE OF MUTATION
• In 1980s, surveys of DNA sequences variations
among individuals of a given species and between
closely related species showed that the mt DNA of
vertebrates evolves almost 10 times more rapidly
than the nuclear DNA of the same organism
• The higher rate of DNA mutation in mitochondrion
probably reflects
1. More errors in replication
2. Less efficient repair mechanism / No mechansim
 HUMAN GENETIC DISEASES AND
MITOCHONDRIAL DNA DEFECTS
1. Mutations in mtDNA can produce human genetic disorders. Examples:
a. Leber’s hereditary optic neuropathy (LHON). Optic nerve degeneration results
in complete or partial blindness in mid-life adults.
i. LHON is caused by mutations in mtDNA genes for electron transport
chain proteins. (These include ND1, ND2, ND4, ND5, ND6, cyt b, COI,
COIII, and ATPase 6.)
ii. LHON results from defects in the enzymes of oxidative
phosphorylation. Without ATP production, the optic nerve dies.
b. Kearns-Sayre syndrome produces three types of neuromuscular defects:
i. Progressive paralysis of certain eye muscles.
ii. Abnormal pigment accumulation on the retina, causing chronic
inflammation and degeneration of the retina.
iii. Heart disease.
iv. Kearns-Sayre syndrome results from deletions in mtDNA. A model for
the disorder is that tRNA genes are removed, disrupting mitochondrial
translation.
 c. Myoclonic epilepsy and ragged-red fiber disease (MERRF). Symptoms include:
i. Microscopic tissue abnormality, “ragged-red fibers.”
ii. Myoclonic seizures (jerking spasms).
iii. Ataxia (uncoordinated movement).
iv. Accumulation of lactic acid in blood.
v. Additional symptoms are sometimes present, including:
(1) Dementia.
(2) Loss of hearing.
(3) Difficulty speaking.
(4) Optic atrophy.
(5) Involuntary jerking of eyes.
(6) Short stature.
vi. Mitochondria have abnormal appearance.
vii. The cause is a single nucleotide substitution in the lysine tRNA gene.
Mitochondrial protein synthesis is affected, and in some way this phenotype is
produced.
2. In most mtDNA disorders, cells of affected individuals have a mix of normal and
mutant mitochondria (heteroplasmy).
a. Proportions of the two mitochondrial types vary between tissues, and between
individuals.
b. Severity of disease correlates with the relative amount of mutant mitochondria.
• Deletions of mitochondrial genome may be taking
place all the times in cells
• Multiple copies may prevent the onset of disorder
• However once , mt DNA becomes shorter , it
multiplies more quickly than the larger, intact DNA
• Eventually the deleted mt DNA will take over in the
organelle population, leading to a lethal condition
 PLASMID AND TUMOR
TRANSFORMATION
• Extrachromosomal DNA molecules that replicate
independently and maintain themselves in the
cytoplasm of plant cells are called plasmids
• They have much in common with chromosomes of
mitochondria, but are not organized into organelles
that are vital to their host cells
• A plasmid called Ti (for tumor-inducing) carries a
DNA sequence that transforms cells of
dicotyledonous plants to tumor cells
• It is caused by viable bacteria that enter a wounded
surface of a plant
• The bacteria may be killed after few days but tumor
continue to grow
• A fragment of Ti plasmid carried by the bacterium
has been combined with a DNA segment of infected
plant cell
• Genes carried by the plasmid code for enzymes that
promote continuous and uncontrolled tumor growth
 MITOCHONDRIAL INHERITANCE IN
IDENTICAL TWINS
• In some pairs of identical twins, one twin manifests
symptoms of neurodegenerative disease but other
twin does not
• This is because even though their nuclear genomes
are identical, their mitochondrial genomes are not
identical
 MITOCHONDRIAL MUTATION AND
AGING
• Some researchers think that

Accumulation of mutations ( both base substitutions

and deletions ) in mt DNA over a life time, and
progressive enrichment of deleted mt DNAs through
their tendency to replicate more rapidly than longer,
non deleted mt DNAs, results in an age-related
decline in oxidative phosphorylation
This decline in turn accounts for some of the symptoms
of aging, such as decrease in heart and brain function
 MITOCHONDRIAL EVE

• Mitochondria is maternally derived in humans

• Males are Mitochondrial Dead ends
• Each individual has a single Mitochondrial Line -- Mother to
Maternal Grandmother to Maternal-Maternal Great Grandmother,
etc.
• Each generation, some Mitochondrial Lines die out due to no
females being born in that line to carry on the mitochondria.
• Eventually, all lines converge to a single Female who live in Africa
some 200,000 years ago.
• Mutation rates can be used to estimate the time of divergence, as
well as the relationship among the different subpopulations in the
world.
 APPLICATIONS OF EXTRANUCLEAR
INHERITANCE
1. mtDNA is useful for forensic examinations

2. molecular anthropologists have been using mtDNA for two

decades to examine both the extent of genetic variation in
humans and the relatedness of populations all over the
world.

3. Since the organelle genome is so highly simplified, mtDNA

or cpDNA can be retrieved and analyzed from ancient or
poorly preserved samples in which there would be no
chance of retrieving a nuclear marker
4. human diseases caused by deleterious mutations
in gene-coding regions of the mtDNA molecule,
which have been studied by the medical
profession to understand their mode of inheritance
5. Chloroplast genes are used for evolutionary
studies in plants and algae
6. Mitochondrial genes can also be used to trace
the female ancestor of humans, while Y-
chromosome genes can be used to trace male
ancestors.
 APPLICATIONS IN PLANT BREEDING
1. Some time Extranuclear inhetiance is associated
with dwarf growth.
2. Affect flower morphology
3. Some time tolerance to herbicide is encoded by mt
gene
4. Cms is the trait encode by mt genome
5. Induction of leaf variegation patterns in
ornamentals
THANKS