Structural Chromosomal aberrations (Change in Structure of Chromosome)Asad Afridi
this presentation is about chromosomal aberration especially change in structure of chromosome. different types of structural chromosomal aberrations are also discussed. effects of different aberration are also included.
Gene regulation in eukaryotes in a nutshell covering all the important stages of gene regulation in eukaryotes at transcriptional level, translation level and post-translational level.
Structural Chromosomal aberrations (Change in Structure of Chromosome)Asad Afridi
this presentation is about chromosomal aberration especially change in structure of chromosome. different types of structural chromosomal aberrations are also discussed. effects of different aberration are also included.
Gene regulation in eukaryotes in a nutshell covering all the important stages of gene regulation in eukaryotes at transcriptional level, translation level and post-translational level.
"Epigenetics refers to genetic factors that change an organism’s appearance or biological functions without changing the actual DNA sequence. In other words, gene expression changes but the genes themselves don’t. Epigenetics adds an additional level of complexity to the genetic code." - Public Health Cafe
Slide 1: Title Slide
Extrachromosomal Inheritance
Slide 2: Introduction to Extrachromosomal Inheritance
Definition: Extrachromosomal inheritance refers to the transmission of genetic material that is not found within the nucleus.
Key Components: Involves genes located in mitochondria, chloroplasts, and plasmids.
Slide 3: Mitochondrial Inheritance
Mitochondria: Organelles responsible for energy production.
Mitochondrial DNA (mtDNA): Circular DNA molecule found in mitochondria.
Inheritance Pattern: Maternally inherited, meaning it is passed from mothers to all their offspring.
Diseases: Examples include Leber’s hereditary optic neuropathy (LHON) and mitochondrial myopathy.
Slide 4: Chloroplast Inheritance
Chloroplasts: Organelles responsible for photosynthesis in plants.
Chloroplast DNA (cpDNA): Circular DNA molecule found in chloroplasts.
Inheritance Pattern: Often maternally inherited in most plants, but can vary in some species.
Examples: Variegation in plants, where leaf color patterns are determined by chloroplast DNA.
Slide 5: Plasmid Inheritance
Plasmids: Small, circular DNA molecules found in bacteria and some eukaryotes.
Features: Can carry antibiotic resistance genes and can be transferred between cells through processes like conjugation.
Significance: Important in biotechnology for gene cloning and genetic engineering.
Slide 6: Mechanisms of Extrachromosomal Inheritance
Non-Mendelian Patterns: Do not follow Mendel’s laws of inheritance.
Cytoplasmic Segregation: During cell division, organelles like mitochondria and chloroplasts are randomly distributed to daughter cells.
Heteroplasmy: Presence of more than one type of organellar genome within a cell, leading to variation in expression.
Slide 7: Examples of Extrachromosomal Inheritance
Four O’clock Plant (Mirabilis jalapa): Shows variegated leaves due to different cpDNA in leaf cells.
Petite Mutants in Yeast: Result from mutations in mitochondrial DNA affecting respiration.
Slide 8: Importance of Extrachromosomal Inheritance
Evolution: Provides insight into the evolution of eukaryotic cells.
Medicine: Understanding mitochondrial inheritance helps in diagnosing and treating mitochondrial diseases.
Agriculture: Chloroplast inheritance can be used in plant breeding and genetic modification.
Slide 9: Recent Research and Advances
Gene Editing: Techniques like CRISPR-Cas9 are being used to edit mitochondrial and chloroplast DNA.
Therapies: Development of mitochondrial replacement therapy (MRT) for preventing mitochondrial diseases.
Slide 10: Conclusion
Summary: Extrachromosomal inheritance involves the transmission of genetic material outside the nucleus and plays a crucial role in genetics, medicine, and biotechnology.
Future Directions: Continued research and technological advancements hold promise for new treatments and applications.
Slide 11: Questions and Discussion
Invite Audience: Open the floor for any questions or further discussion on the topic.
"Epigenetics refers to genetic factors that change an organism’s appearance or biological functions without changing the actual DNA sequence. In other words, gene expression changes but the genes themselves don’t. Epigenetics adds an additional level of complexity to the genetic code." - Public Health Cafe
Slide 1: Title Slide
Extrachromosomal Inheritance
Slide 2: Introduction to Extrachromosomal Inheritance
Definition: Extrachromosomal inheritance refers to the transmission of genetic material that is not found within the nucleus.
Key Components: Involves genes located in mitochondria, chloroplasts, and plasmids.
Slide 3: Mitochondrial Inheritance
Mitochondria: Organelles responsible for energy production.
Mitochondrial DNA (mtDNA): Circular DNA molecule found in mitochondria.
Inheritance Pattern: Maternally inherited, meaning it is passed from mothers to all their offspring.
Diseases: Examples include Leber’s hereditary optic neuropathy (LHON) and mitochondrial myopathy.
Slide 4: Chloroplast Inheritance
Chloroplasts: Organelles responsible for photosynthesis in plants.
Chloroplast DNA (cpDNA): Circular DNA molecule found in chloroplasts.
Inheritance Pattern: Often maternally inherited in most plants, but can vary in some species.
Examples: Variegation in plants, where leaf color patterns are determined by chloroplast DNA.
Slide 5: Plasmid Inheritance
Plasmids: Small, circular DNA molecules found in bacteria and some eukaryotes.
Features: Can carry antibiotic resistance genes and can be transferred between cells through processes like conjugation.
Significance: Important in biotechnology for gene cloning and genetic engineering.
Slide 6: Mechanisms of Extrachromosomal Inheritance
Non-Mendelian Patterns: Do not follow Mendel’s laws of inheritance.
Cytoplasmic Segregation: During cell division, organelles like mitochondria and chloroplasts are randomly distributed to daughter cells.
Heteroplasmy: Presence of more than one type of organellar genome within a cell, leading to variation in expression.
Slide 7: Examples of Extrachromosomal Inheritance
Four O’clock Plant (Mirabilis jalapa): Shows variegated leaves due to different cpDNA in leaf cells.
Petite Mutants in Yeast: Result from mutations in mitochondrial DNA affecting respiration.
Slide 8: Importance of Extrachromosomal Inheritance
Evolution: Provides insight into the evolution of eukaryotic cells.
Medicine: Understanding mitochondrial inheritance helps in diagnosing and treating mitochondrial diseases.
Agriculture: Chloroplast inheritance can be used in plant breeding and genetic modification.
Slide 9: Recent Research and Advances
Gene Editing: Techniques like CRISPR-Cas9 are being used to edit mitochondrial and chloroplast DNA.
Therapies: Development of mitochondrial replacement therapy (MRT) for preventing mitochondrial diseases.
Slide 10: Conclusion
Summary: Extrachromosomal inheritance involves the transmission of genetic material outside the nucleus and plays a crucial role in genetics, medicine, and biotechnology.
Future Directions: Continued research and technological advancements hold promise for new treatments and applications.
Slide 11: Questions and Discussion
Invite Audience: Open the floor for any questions or further discussion on the topic.
EXTRA CHROMOSOMAL INHERITANCE & GENOME IMPRINTINGBiswarup Nandi
Cytoplasmic Inheritance:
Imagine genetic information passing from a mother to her child. It happens through tiny structures called organelles in the cell.
These organelles have their own set of instructions, separate from the cell’s nucleus.
Why is this important? Because it affects how traits are inherited!
Genomic Imprinting:
Think of it like a “parental tag” on genes. Some genes behave differently depending on whether they come from the mother or the father.
Epigenetics plays a role here—it’s like a switch that can turn genes on or off.
This process affects development and can lead to certain diseases.
Remember, these concepts help scientists understand how our genes work and why we’re unique! 🧬
Introduction
Maternal Inheritance
Organellar inheritance
Mitochondrial inheritance
Chloroplast inheritance
Inheritance involving kappa particle
INTRODUCTION
DNA or RNA is the Genetic materials carrying information from
one generation to another.
Besides these two nucleic acids the cytoplasm also
contributes to the inheritance of some characters in some
organisms.
Extra chromosomal inheritance is also defined as nonmendelian inheritance
Inheritance due to genes located in cytoplasm plasmagenes.
The genes are located in DNA present in mitochondria and in chloroplasts these
are called organellar genes. This type of inheritance is also called as
cytoplasmic inheritance.
The evidence of cytoplasmic inheritance was first presented by Carl Correns in
mirabilis jalapa.
In 1943, Sonnenborn discovered Kappa Particles in Paramecium and they are
inherited through cytoplasm.
In cytoplasmic inheritance the character of female parent is only transmitted to
the progeny
MATERNAL INHERITANCE
The character of only one of the two parents (usually female parent) is
transmitted to their progeny.
It is usually referred to as extra-chromosomal or maternal or uniparental
inheritance.
The transmission of cytoplasm differs between sex cells:
Sperm or pollen transfer little or no cytoplasm to the zygote, but Egg
Contributes almost all of the cytoplasm to the zygote
This pattern of mtDNA inheritance is well known as "maternal
inheritance.
ORGANELLAR INHERITANCE
The cytoplasmic organelles like plastids (chloroplast) and
mitochondria are involved.
The cytoplasmic inheritance is governed by the genes of
mitochondria and chloroplast.
The genes which involve in cytoplasmic inheritance are called
plasma genes or cytoplasmic genes or extra nuclear genes.
EXMAPLES FOR NON-MENDELIAN INHERITANCE
Plastid inheritance in Mirabilis
Kappa particles in Paramecium
Shell coiling in Snail
Cytoplasmic male sterility in Maize
Milk factor in mice
CHLOROPLAST INHERITANCE
LEAF VARIEGATION IN MIRABILIS JALAPA
The evidence for cytoplasmic inheritance was first presented by Carl
Correns in Mirabilis jalapa (Four ‘O’ clock plant).
He observed a strange pattern of inheritance and studied inheritance
of leaf variegation
In M. jalapa, leaves may be g
Cytoplasmic inheritance and extra chromosomal inheritanceJs Mn
the cytoplasmic inheritance is in which cytoplasm contain self replicating hereditary material of cytoplasm formed of DNA and this DNA govern many specific characters in plants and animals.
In 1950 Dr. Sangers and his colleagues suggested the possible role of cytoplasm in
certain cases of inheritance .
Example – in Chlamydomonas inheritance of certain characters is controlled by the
non-chromosomal genes.
• The cytoplasm in such cases contains self-perpetuating hereditary particles
formed of DNA. These may be mitochondria, plastids or foreign organisms etc.
• The total self-duplicating hereditary material of cytoplasm is called plasmon and
the cytoplasm units of inheritance are described as plasmagenes.
• Plasmagenes are located in DNA present in mitochondria and in chloroplast.
Non mendelian inheritance / cytoplasmic inheritance / Extranuclear InheritanceMahammed Faizan
Inheritance of traits from parents to off springs from cytoplasmic organelle genetic material is known as extra nuclear inheritance.
it is mainly responsible due to DNA present in cytoplasmic organelle.
total genes present in cytoplasm is know as as plasmon.
Ethical and bio-safety issues related to GM cropsMahammed Faizan
a seminar presentation on ethical and bio-safety issues related GM crops.
impact of gm crops on human, animal and environmental health.
safety measure related transgenic crops.
international governmental bodies
Richard's aventures in two entangled wonderlandsRichard Gill
Since the loophole-free Bell experiments of 2020 and the Nobel prizes in physics of 2022, critics of Bell's work have retreated to the fortress of super-determinism. Now, super-determinism is a derogatory word - it just means "determinism". Palmer, Hance and Hossenfelder argue that quantum mechanics and determinism are not incompatible, using a sophisticated mathematical construction based on a subtle thinning of allowed states and measurements in quantum mechanics, such that what is left appears to make Bell's argument fail, without altering the empirical predictions of quantum mechanics. I think however that it is a smoke screen, and the slogan "lost in math" comes to my mind. I will discuss some other recent disproofs of Bell's theorem using the language of causality based on causal graphs. Causal thinking is also central to law and justice. I will mention surprising connections to my work on serial killer nurse cases, in particular the Dutch case of Lucia de Berk and the current UK case of Lucy Letby.
Multi-source connectivity as the driver of solar wind variability in the heli...Sérgio Sacani
The ambient solar wind that flls the heliosphere originates from multiple
sources in the solar corona and is highly structured. It is often described
as high-speed, relatively homogeneous, plasma streams from coronal
holes and slow-speed, highly variable, streams whose source regions are
under debate. A key goal of ESA/NASA’s Solar Orbiter mission is to identify
solar wind sources and understand what drives the complexity seen in the
heliosphere. By combining magnetic feld modelling and spectroscopic
techniques with high-resolution observations and measurements, we show
that the solar wind variability detected in situ by Solar Orbiter in March
2022 is driven by spatio-temporal changes in the magnetic connectivity to
multiple sources in the solar atmosphere. The magnetic feld footpoints
connected to the spacecraft moved from the boundaries of a coronal hole
to one active region (12961) and then across to another region (12957). This
is refected in the in situ measurements, which show the transition from fast
to highly Alfvénic then to slow solar wind that is disrupted by the arrival of
a coronal mass ejection. Our results describe solar wind variability at 0.5 au
but are applicable to near-Earth observatories.
Introduction:
RNA interference (RNAi) or Post-Transcriptional Gene Silencing (PTGS) is an important biological process for modulating eukaryotic gene expression.
It is highly conserved process of posttranscriptional gene silencing by which double stranded RNA (dsRNA) causes sequence-specific degradation of mRNA sequences.
dsRNA-induced gene silencing (RNAi) is reported in a wide range of eukaryotes ranging from worms, insects, mammals and plants.
This process mediates resistance to both endogenous parasitic and exogenous pathogenic nucleic acids, and regulates the expression of protein-coding genes.
What are small ncRNAs?
micro RNA (miRNA)
short interfering RNA (siRNA)
Properties of small non-coding RNA:
Involved in silencing mRNA transcripts.
Called “small” because they are usually only about 21-24 nucleotides long.
Synthesized by first cutting up longer precursor sequences (like the 61nt one that Lee discovered).
Silence an mRNA by base pairing with some sequence on the mRNA.
Discovery of siRNA?
The first small RNA:
In 1993 Rosalind Lee (Victor Ambros lab) was studying a non- coding gene in C. elegans, lin-4, that was involved in silencing of another gene, lin-14, at the appropriate time in the
development of the worm C. elegans.
Two small transcripts of lin-4 (22nt and 61nt) were found to be complementary to a sequence in the 3' UTR of lin-14.
Because lin-4 encoded no protein, she deduced that it must be these transcripts that are causing the silencing by RNA-RNA interactions.
Types of RNAi ( non coding RNA)
MiRNA
Length (23-25 nt)
Trans acting
Binds with target MRNA in mismatch
Translation inhibition
Si RNA
Length 21 nt.
Cis acting
Bind with target Mrna in perfect complementary sequence
Piwi-RNA
Length ; 25 to 36 nt.
Expressed in Germ Cells
Regulates trnasposomes activity
MECHANISM OF RNAI:
First the double-stranded RNA teams up with a protein complex named Dicer, which cuts the long RNA into short pieces.
Then another protein complex called RISC (RNA-induced silencing complex) discards one of the two RNA strands.
The RISC-docked, single-stranded RNA then pairs with the homologous mRNA and destroys it.
THE RISC COMPLEX:
RISC is large(>500kD) RNA multi- protein Binding complex which triggers MRNA degradation in response to MRNA
Unwinding of double stranded Si RNA by ATP independent Helicase
Active component of RISC is Ago proteins( ENDONUCLEASE) which cleave target MRNA.
DICER: endonuclease (RNase Family III)
Argonaute: Central Component of the RNA-Induced Silencing Complex (RISC)
One strand of the dsRNA produced by Dicer is retained in the RISC complex in association with Argonaute
ARGONAUTE PROTEIN :
1.PAZ(PIWI/Argonaute/ Zwille)- Recognition of target MRNA
2.PIWI (p-element induced wimpy Testis)- breaks Phosphodiester bond of mRNA.)RNAse H activity.
MiRNA:
The Double-stranded RNAs are naturally produced in eukaryotic cells during development, and they have a key role in regulating gene expression .
The increased availability of biomedical data, particularly in the public domain, offers the opportunity to better understand human health and to develop effective therapeutics for a wide range of unmet medical needs. However, data scientists remain stymied by the fact that data remain hard to find and to productively reuse because data and their metadata i) are wholly inaccessible, ii) are in non-standard or incompatible representations, iii) do not conform to community standards, and iv) have unclear or highly restricted terms and conditions that preclude legitimate reuse. These limitations require a rethink on data can be made machine and AI-ready - the key motivation behind the FAIR Guiding Principles. Concurrently, while recent efforts have explored the use of deep learning to fuse disparate data into predictive models for a wide range of biomedical applications, these models often fail even when the correct answer is already known, and fail to explain individual predictions in terms that data scientists can appreciate. These limitations suggest that new methods to produce practical artificial intelligence are still needed.
In this talk, I will discuss our work in (1) building an integrative knowledge infrastructure to prepare FAIR and "AI-ready" data and services along with (2) neurosymbolic AI methods to improve the quality of predictions and to generate plausible explanations. Attention is given to standards, platforms, and methods to wrangle knowledge into simple, but effective semantic and latent representations, and to make these available into standards-compliant and discoverable interfaces that can be used in model building, validation, and explanation. Our work, and those of others in the field, creates a baseline for building trustworthy and easy to deploy AI models in biomedicine.
Bio
Dr. Michel Dumontier is the Distinguished Professor of Data Science at Maastricht University, founder and executive director of the Institute of Data Science, and co-founder of the FAIR (Findable, Accessible, Interoperable and Reusable) data principles. His research explores socio-technological approaches for responsible discovery science, which includes collaborative multi-modal knowledge graphs, privacy-preserving distributed data mining, and AI methods for drug discovery and personalized medicine. His work is supported through the Dutch National Research Agenda, the Netherlands Organisation for Scientific Research, Horizon Europe, the European Open Science Cloud, the US National Institutes of Health, and a Marie-Curie Innovative Training Network. He is the editor-in-chief for the journal Data Science and is internationally recognized for his contributions in bioinformatics, biomedical informatics, and semantic technologies including ontologies and linked data.
Professional air quality monitoring systems provide immediate, on-site data for analysis, compliance, and decision-making.
Monitor common gases, weather parameters, particulates.
2. Extranuclear Inheritance
Inheritance of traits from parents to off springs
from cytoplasmic organelle genetic material is known as
extranuclear inheritance or cytoplasmic inheritance.
it is mainly responsible due to DNA present in
cytoplasmic organelle.
total genes present in cytoplasm is know as as
plasmon.
3. History:-
Carl corren in 4 o΄clock plant and baur in pelargnium
zonale in 1908.
In 1924, jenkins described the iojap leaf variegation in
maize.
Rhodes in cms in maize in 1933.
Sonneborn discovered kappa particles in paramecium.
Cp DNA discovered by Ris and Plaut in 1962.
Nass and coworker discovered in mt DNA in 1954.
4. Features of cytoplasmic inheritance.
Reciprocal inheritance.
Lack of segregation.
Irregular segregation in biparental inheritance.
Somatic segregation.
Association with organellar DNA.
Nuclear transplantation.
Mutagenesis
Lack of chromosome.
Lack of association with A Parasite,symbiont or virus.
5. Types of Extranuclear Inheritance
1. Maternal (organelle) inheritance
2. Infectious inheritance
3. Maternal effect on phenotype
6. Maternal (organelle) inheritance
Eukaryote cells contain mitochondria (plants,
fungi, and animals) and chloroplasts (plants only).
Both have genomes organized as a single circular
chromosome.
7. Chloroplasts
vary between 120 & 217 kB, according to species
• 85kbps in chodia and 2000kbps in acetobularia.
• encode ~ 100 proteins, 4 rRNA &~30 tRNA
5 classes of proteins
1. ribosomal & other proteins involved in translation
2. proteins involved in transcription
3. proteins involved in photosynthesis
4. proteins involved in respiration
5. ORFs (open reading frames)
sequences capable of encoding proteins but no product has
been identified.
8.
9. Mito DNA
range from 200 to 2500 kb (16 kb for mammalian mito)
encodes ~ 35 proteins, also rRNA & tRNA
subunits of ATP synthase & complexes I, II, III & IV
mtDNA recombines to form new genes, some poison
pollen development to create cytoplasmic male sterility
Pollen don't transmit mito, May be due to PCD (apoptosis)
12. Ovule Source
Pollen Source White Green Variegated
White White Green W, G, var
Green White Green W, G, var
Variegated White Green W, G, var
Leaf Color in Four O’Clocks
13. Chlaydomosanas reinhordtii (sager and coworker)
• Only one chloroplast is present per
cell. Antibiotic resistance comes
from mt+ cell. Mitochondria come
from mt- cell.
• Heteroplasmic cells allow
recombination between DNA in the
two choloroplasts
15. Mitochondrial Depletion Syndrome
Mitochondrial Depletion Syndrome is a maternally
inherited disease characterized by multiple muscular and
neural symptoms, with a wide variety of severity in
different individuals.
The severity of the condition is dependent on the number
of disabled mitochondria present in the egg.
An egg with a large number of disabled mitochondria
would result in a child with severe abnormalities
An egg with only a few disabled mitochondria would
result in an individual only mildly affected.
Ex:- LHON,Pearson marrow-pancreas syndrome.
18. Promiscuous DNA.
DNA segment that transfer from one organelle into the
other.
ex:- A.thaliana 400-2200genes in nucleus is by
endosymbionts.
19. Features of organelle genome
Circular
Multiple copies
Encode RNA and protein for organelle
In case of biparental recombination doesn’t take place
Organelle DNA is replicated by nuclear DNA
Accumulation of mutation is higher.
CpDNA is larger.
Recombination is less.
20. MATERNAL EFFECT
The maternal genome has a strong effect on early
developmental events in the newly formed individual
after fertilization.
Numerous transcripts are synthesized off the maternal
genome during oogenesis. These RNA transcripts are not
immediately translated; instead, they are preserved in the
oocyte.
21. The phenotype produced by these archived
products is expressed in the zygote (genetically
distinct from the mother) but is due entirely to the
genotype of the mother.
22. Coiling in Limnaea snails
Whether the shell coils to the
right or left is determined by the
maternal genotype and is
preserved in the oocyte. Dextral, or
right-handed coiling is dominant to
sinistral, or left-handed coiling.
23. crosses The direction of shell coiling is controlled
by the mother’s nuclear genotype
The direction of shell coiling in Limnaea is due to a
maternal developmental gene which controls the
orientation of the spindle in the second mitotic division
of the zygote
24. The life cycle of the protozoan Paramecium showing steps in
conjugation and autogamy.
26. Genetic Imprinting.
Describe a difference in the behaviour of allele of gene
contributed by the two parent af an individual.
ex:-IGF-II gene encoding in mice.
27. Endosymbiotic Hypothesis
It is thought that chloroplasts and mitochondria
arose from ancient bacteria engulfed by primitive
eukaryotic cells.
The cells developed a symbiotic relationship that
gave the eukaryotic cells the ability to respire
aerobically (mitochondria) and capture light
energy (chloroplasts).
28. Infectious Heredity
An invading microorganism may exist in a symbiotic
relationship with its host organism. The invader is then
passed on in the maternal egg cytoplasm (ooplasm) and
confers the beneficial phenotype to the offspring.
29. Infectious Heredity in Drosophila
The responsible element is a protozoan. When ooplasm
from affected individuals or the protozoan itself is injected
into oocytes of normal individuals, the temperature-
sensitive, altered sex ratio condition results.
The condition is due to a sensitivity to a virus, sigma
CO2 sensitivity: Affected flies do not recover normally from
CO2 anesthesia. They become permanently paralyzed and
die.
Sex ratio: Affected flies produce predominantly female
offspring if reared at 21°C or lower. The condition is
transmitted only to daughters, not to the small number of
males produced.