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 Genes beyond the nucleus
EXTRACHROMOSOMAL
INHERITANCE
Presented by :- BISWARUP NANDI
B.Sc. Molecular Biology & Biotechnology (3rd Sem)
KEY TOPICS
 Maternal Inheritance
 Organelle Heridity
 Maternal Effect
 Rules of Extranuclear Inheritance
 Why Important?
01 Cytoplasmic Inheritance
 What it is?
 Epigenetics
 Mechanism
 Related Diseases
 Why Important?
02 Genomic Imprinting
Cytoplasmic
Inheritance
01
What is Cytoplasmic Inheritance?
 It simply refers to the inheritance of traits that
are not controlled by nuclear genes
 Instead they are determined by the
cytoplasm (or things in it, including
organelles)
 The reasonable Cytoplasmic Genes
are located in specific organelles
{e.g. Chloroplast, Mitochondria}
 It is also known as Non-Mendelian
Inheritance
Parental Contribution
 Based on the parental cytoplasmic
contribution it is of two types -
Uniparental Inheritance:-
 Where genetic material or traits are
inherited from a single parent (usually
mother) e.g. in humans, mtDNA is
inherited solely from the mother.
Biparental Inheritance:-
 This can occur when there is a transfer
of extrachromosomal genetic material
from both the maternal and paternal
parents to the offspring. e.g. chloroplast
transmission in Pelargonium cultivars.
In 1909, Carl Correns reported some surprising result
from his study on four o’ clock plants (Mirabilis jalapa)
Maternal Inheritance
 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.
 They have been intercrossed in a variety of
different combinations by transferring pollen
from one flower to another
Carl Correns
Experiment with Mirabilis jalapa
How this results could be explained?
 The difference in leaf color was
known to be due to presence of
either green or colorless chloroplast
 These cytoplasmic organelles are
transmitted from the maternal side
but never from the pollen
 The inheritance pattern might be
explained if these cytoplasmic
organelle are somehow genetically
autonomous
Chloroplast DNA
In 1962, the discovery that the chloroplast contains
ribosomes and performs protein synthesis revealed that
the chloroplast is genetically semi-autonomous
 cpDNA is closed, circular and double stranded
 Chloroplast genomes are 130-150kb
 It has about 110 genes in it
 Most genes are involved in Photosynthesis
 This non-mendelian inheritance pattern was later traced to a gene named
iojap which codes for a protein required for proper assembly of the
chloroplast ribosome.
What acutally happened?
Organelle Heredity
The cytoplasmic organelles like plastids (chloroplast)
and mitochondria are involved in this type of
inheritance. It is governed by genes located in their-
 cpDNA
 mtDNA
Both the organelles have –
 Their own ds circular DNA which lacks histone
 70S ribosomes
 Can move and reproduce in their own
 Resembles bacteria
Endosymbiotic Theory
Mitochondrial Inheritance
in Human Disease
During fertilization sperm only contribute its
nucleus. Available mtDNA in zygote is that of
the mother. So if the egg contains mutant
mitochondria, children may have mitochondrial
disorder, like-
Leigh Syndrome:
 Genetic mutation in mtDNA
 Chronic lack of energy in the cells
 Affects the central nervous system
 Progressive degeneration of motor functions
 Appears before age 2 and dies in most cases
Maternal Effect
 There is no genetic influence of either the progeny or the
father in that character which shows such maternal effect.
 Nuclear genotype of mother decides the phenotype of progeny.
 In multicellular eukaryotes, maternal effect does not produce
the same result in reciprocal crosses.
 This effect is often due to the mother supplying messenger
RNA or proteins to the egg.
 It introduces the concept of phenotypic plasticity, an important
evolutionary concept
A maternal effect is a situation where the phenotype of an organism is
determined by the genotype of its mother in the early cleavage steps of
that progeny’s life
Shell coiling in Limnaea Snail
Rules of Extrachromosomal Inheritance
 Extrachromosomal DNA does not follow the Mendelian pattern of inheritance
 Ratios typical of Mendelian segregation are not found, because meiosis-based
Mendelian segregation is not involved.
 The inheritance of extrachromosomal factors is independent of genes
located within the cell nucleus.
 Extrachromosomal traits are inherited exclusively from the mother.
 Phenotypic variation occurs easily.
 Non-nuclear inheritance can occur in the cytoplasm of cells and involves
genes present in cytoplasmic organelles like mitochondria and plastids
Why are these Important?
 Useful in explaining the role of various cytoplasmic organelles
in the transmission of characters
 Facilitated the mapping of the chloroplast genome and
mitochondrial genome in numerous species
 The evolution of organelle genomes is well understood
 Used to study the evolution of sex determination mechanisms
in some species
 Helped to study the diseases related to mutant mitochondria
 Have opened the door to a new world of reproductive
medicine – “3 Parent Baby Technique”
Genomic
Imprinting
02
History of Imprinting
 in 1980s scientists tried to make embryos with only maternal DNA
(from two eggs) or only paternal DNA (from two sperm)
 They found that these embryos did not develop normally and died early.
 They also had different defects depending on which DNA they had.
 This suggested that some genes were regulated differently depending
on whether they came from the mother or the father
Definition
Gene inactivation on selected chromosomal regions of autosomes is
called Genomic Imprinting.
 This is the cause of preferential expression of one of the parental
allele.
 Maternal imprinting refers to transcriptional silencing of the
maternal allele.
 Paternal imprinting implies that the paternal allele is inactivated.
 Imprinting occurs in the ovum or the sperm, before fertilization.
 Mechanism of Genomic Imprinting can be explained by
EPIGENETICS
EPIGENETICS
Reversible heritable chemical modification of DNA or histone or nonhistone proteins
that does not alter DNA sequence itself is called EPIGENETICS
 The term epigenetics means, above genetics' as the nucleotide sequence is unaltered
 This is one of the recently discovered method of regulation of gene expression.
 Epigenome: Constellation of covalent modification of DNA and histones that impact chromatin
structure and modulation of gene expression.
 Epigenetic modifications include DNA Methylation, Post-translational modification of Histones.
DNA Methylation
 It is usually restricted to Cytosine residues
in CpG dinucleotide of CpG islands
 Enzyme responsible for methylation is
Methyl Transferases
 Generally decreases the gene expression
It is a biological process that adds methyl groups to
DNA molecules and change the activity of a DNA
segment without changing the sequence
Gene promoters and regulation by methylation-
demethylations-
• Majority of gene promoters have high CG content.
• CpG islands are the common sites of methylation-
demethylations
⚫ Hence, methylation-demethylations plays an
important role in regulation of gene expression.
⚫ CpG islands of promoters are typically
unmethylated, it favors transcription.
Histone Modifications
 Acetylation
 Deacytylation
 Methylation
 Phosphorylation
They are dynamic and reversible
Errors in Genomic Imprinting
Why studying Genomic Imprinting
is Important?
• It affects embryonic and fetal growth and
development
• It is related to the uterine resource extraction
and parental conflict
• It is essential for normal phenotypes and
diseases
• It can help us understand how other genes
bypass epigenetic reprogramming
• It involves different epigenetic processes (DNA
methylation and histone modifications)1
• It is controlled by imprinting control regions
(ICRs) that demonstrate differential DNA
methylation
Thank You
Liked my work? 😊
Then Buy me a tea 😉
UPI id : nice.tea@abfspay
Wanna do more projects with me?
🎉!!! Let’s collab !!! 🎉
Connect me at : okbiswarup@gmail.com

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EXTRA CHROMOSOMAL INHERITANCE & GENOME IMPRINTING

  • 1.  Genes beyond the nucleus EXTRACHROMOSOMAL INHERITANCE Presented by :- BISWARUP NANDI B.Sc. Molecular Biology & Biotechnology (3rd Sem)
  • 2. KEY TOPICS  Maternal Inheritance  Organelle Heridity  Maternal Effect  Rules of Extranuclear Inheritance  Why Important? 01 Cytoplasmic Inheritance  What it is?  Epigenetics  Mechanism  Related Diseases  Why Important? 02 Genomic Imprinting
  • 4. What is Cytoplasmic Inheritance?  It simply refers to the inheritance of traits that are not controlled by nuclear genes  Instead they are determined by the cytoplasm (or things in it, including organelles)  The reasonable Cytoplasmic Genes are located in specific organelles {e.g. Chloroplast, Mitochondria}  It is also known as Non-Mendelian Inheritance
  • 5. Parental Contribution  Based on the parental cytoplasmic contribution it is of two types - Uniparental Inheritance:-  Where genetic material or traits are inherited from a single parent (usually mother) e.g. in humans, mtDNA is inherited solely from the mother. Biparental Inheritance:-  This can occur when there is a transfer of extrachromosomal genetic material from both the maternal and paternal parents to the offspring. e.g. chloroplast transmission in Pelargonium cultivars.
  • 6. In 1909, Carl Correns reported some surprising result from his study on four o’ clock plants (Mirabilis jalapa) Maternal Inheritance  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.  They have been intercrossed in a variety of different combinations by transferring pollen from one flower to another Carl Correns
  • 8. How this results could be explained?  The difference in leaf color was known to be due to presence of either green or colorless chloroplast  These cytoplasmic organelles are transmitted from the maternal side but never from the pollen  The inheritance pattern might be explained if these cytoplasmic organelle are somehow genetically autonomous
  • 9. Chloroplast DNA In 1962, the discovery that the chloroplast contains ribosomes and performs protein synthesis revealed that the chloroplast is genetically semi-autonomous  cpDNA is closed, circular and double stranded  Chloroplast genomes are 130-150kb  It has about 110 genes in it  Most genes are involved in Photosynthesis  This non-mendelian inheritance pattern was later traced to a gene named iojap which codes for a protein required for proper assembly of the chloroplast ribosome.
  • 11. Organelle Heredity The cytoplasmic organelles like plastids (chloroplast) and mitochondria are involved in this type of inheritance. It is governed by genes located in their-  cpDNA  mtDNA Both the organelles have –  Their own ds circular DNA which lacks histone  70S ribosomes  Can move and reproduce in their own  Resembles bacteria Endosymbiotic Theory
  • 12. Mitochondrial Inheritance in Human Disease During fertilization sperm only contribute its nucleus. Available mtDNA in zygote is that of the mother. So if the egg contains mutant mitochondria, children may have mitochondrial disorder, like- Leigh Syndrome:  Genetic mutation in mtDNA  Chronic lack of energy in the cells  Affects the central nervous system  Progressive degeneration of motor functions  Appears before age 2 and dies in most cases
  • 13. Maternal Effect  There is no genetic influence of either the progeny or the father in that character which shows such maternal effect.  Nuclear genotype of mother decides the phenotype of progeny.  In multicellular eukaryotes, maternal effect does not produce the same result in reciprocal crosses.  This effect is often due to the mother supplying messenger RNA or proteins to the egg.  It introduces the concept of phenotypic plasticity, an important evolutionary concept A maternal effect is a situation where the phenotype of an organism is determined by the genotype of its mother in the early cleavage steps of that progeny’s life
  • 14. Shell coiling in Limnaea Snail
  • 15. Rules of Extrachromosomal Inheritance  Extrachromosomal DNA does not follow the Mendelian pattern of inheritance  Ratios typical of Mendelian segregation are not found, because meiosis-based Mendelian segregation is not involved.  The inheritance of extrachromosomal factors is independent of genes located within the cell nucleus.  Extrachromosomal traits are inherited exclusively from the mother.  Phenotypic variation occurs easily.  Non-nuclear inheritance can occur in the cytoplasm of cells and involves genes present in cytoplasmic organelles like mitochondria and plastids
  • 16. Why are these Important?  Useful in explaining the role of various cytoplasmic organelles in the transmission of characters  Facilitated the mapping of the chloroplast genome and mitochondrial genome in numerous species  The evolution of organelle genomes is well understood  Used to study the evolution of sex determination mechanisms in some species  Helped to study the diseases related to mutant mitochondria  Have opened the door to a new world of reproductive medicine – “3 Parent Baby Technique”
  • 18. History of Imprinting  in 1980s scientists tried to make embryos with only maternal DNA (from two eggs) or only paternal DNA (from two sperm)  They found that these embryos did not develop normally and died early.  They also had different defects depending on which DNA they had.  This suggested that some genes were regulated differently depending on whether they came from the mother or the father
  • 19. Definition Gene inactivation on selected chromosomal regions of autosomes is called Genomic Imprinting.  This is the cause of preferential expression of one of the parental allele.  Maternal imprinting refers to transcriptional silencing of the maternal allele.  Paternal imprinting implies that the paternal allele is inactivated.  Imprinting occurs in the ovum or the sperm, before fertilization.  Mechanism of Genomic Imprinting can be explained by EPIGENETICS
  • 20. EPIGENETICS Reversible heritable chemical modification of DNA or histone or nonhistone proteins that does not alter DNA sequence itself is called EPIGENETICS  The term epigenetics means, above genetics' as the nucleotide sequence is unaltered  This is one of the recently discovered method of regulation of gene expression.  Epigenome: Constellation of covalent modification of DNA and histones that impact chromatin structure and modulation of gene expression.  Epigenetic modifications include DNA Methylation, Post-translational modification of Histones.
  • 21. DNA Methylation  It is usually restricted to Cytosine residues in CpG dinucleotide of CpG islands  Enzyme responsible for methylation is Methyl Transferases  Generally decreases the gene expression It is a biological process that adds methyl groups to DNA molecules and change the activity of a DNA segment without changing the sequence Gene promoters and regulation by methylation- demethylations- • Majority of gene promoters have high CG content. • CpG islands are the common sites of methylation- demethylations ⚫ Hence, methylation-demethylations plays an important role in regulation of gene expression. ⚫ CpG islands of promoters are typically unmethylated, it favors transcription.
  • 22. Histone Modifications  Acetylation  Deacytylation  Methylation  Phosphorylation They are dynamic and reversible
  • 23. Errors in Genomic Imprinting
  • 24.
  • 25. Why studying Genomic Imprinting is Important? • It affects embryonic and fetal growth and development • It is related to the uterine resource extraction and parental conflict • It is essential for normal phenotypes and diseases • It can help us understand how other genes bypass epigenetic reprogramming • It involves different epigenetic processes (DNA methylation and histone modifications)1 • It is controlled by imprinting control regions (ICRs) that demonstrate differential DNA methylation
  • 26. Thank You Liked my work? 😊 Then Buy me a tea 😉 UPI id : nice.tea@abfspay Wanna do more projects with me? 🎉!!! Let’s collab !!! 🎉 Connect me at : okbiswarup@gmail.com