This document discusses structural and numerical variations in chromosomes and their implications. Structural variations include deletions, duplications, translocations, and inversions which alter chromosome structure. Numerical variations include aneuploidy, which is having an extra or missing chromosome, and euploidy, which is whole set variations. Aneuploidy can be hypoploidy or hyperploidy. Euploidy includes monoploidy and polyploidy. Polyploidy occurs in autopolyploids with replicated chromosome sets and allopolyploids with distinct genomes. Chromosomal variations have implications for plant breeding including determining gene locations and producing new varieties.
Chromosome structure and packaging of dnaDIPTI NARWAL
Chromosome structure : classification based upon centromere position, autosomes and allosomes
Morphology of chromosome: chromatids, chromomeres, telomeres, sister chromatids
packaging of DNA: nucleosome model
functions of Chromosomes
Overview of study
A vector is an organism that does not cause disease itself but spreads infection by conveying pathogens from one host to another. Some Species of mosquito, for example, serve as vectors for the deadly disease such as Malaria (Wilson et al, 2017).
Disease is any harmful deviation from the normal structural or functional state of an organism, generally associated with certain signs and symptoms and differing in nature from physical injury.
A diseased organism commonly exhibits signs or symptoms indicative of its abnormal state. Mosquitoes are common, flying insects that live in most parts of the world. Over 3,500 types of mosquitoes can be found worldwide (Hardstone et al, 2012).Not all mosquitoes bite people or animals.
When mosquitoes bite people, the most common reactions to the bite are itching and swelling. Some mosquitoes can be vectors. The germs (viruses and parasites) that mosquitoes spread can make people sick. Some mosquitoes bite, but do not spread germs. These types of mosquitoes are called nuisance mosquitoes (Becker et al, 2010).
Causes of Heritability by Structural and Numerical chromosome changes fenta assefa
Chromosomes are thread-like molecules that carry hereditary information for everything.
They are made of protein and one molecule of DNA, which contains an organism’s genetic instructions, passed down from parents In humans, animals, and plants, most chromosomes are arranged in pairs within the nucleus of a cell
Cancer cell metabolism: special Reference to Lactate PathwayAADYARAJPANDEY1
Normal Cell Metabolism:
Cellular respiration describes the series of steps that cells use to break down sugar and other chemicals to get the energy we need to function.
Energy is stored in the bonds of glucose and when glucose is broken down, much of that energy is released.
Cell utilize energy in the form of ATP.
The first step of respiration is called glycolysis. In a series of steps, glycolysis breaks glucose into two smaller molecules - a chemical called pyruvate. A small amount of ATP is formed during this process.
Most healthy cells continue the breakdown in a second process, called the Kreb's cycle. The Kreb's cycle allows cells to “burn” the pyruvates made in glycolysis to get more ATP.
The last step in the breakdown of glucose is called oxidative phosphorylation (Ox-Phos).
It takes place in specialized cell structures called mitochondria. This process produces a large amount of ATP. Importantly, cells need oxygen to complete oxidative phosphorylation.
If a cell completes only glycolysis, only 2 molecules of ATP are made per glucose. However, if the cell completes the entire respiration process (glycolysis - Kreb's - oxidative phosphorylation), about 36 molecules of ATP are created, giving it much more energy to use.
IN CANCER CELL:
Unlike healthy cells that "burn" the entire molecule of sugar to capture a large amount of energy as ATP, cancer cells are wasteful.
Cancer cells only partially break down sugar molecules. They overuse the first step of respiration, glycolysis. They frequently do not complete the second step, oxidative phosphorylation.
This results in only 2 molecules of ATP per each glucose molecule instead of the 36 or so ATPs healthy cells gain. As a result, cancer cells need to use a lot more sugar molecules to get enough energy to survive.
Unlike healthy cells that "burn" the entire molecule of sugar to capture a large amount of energy as ATP, cancer cells are wasteful.
Cancer cells only partially break down sugar molecules. They overuse the first step of respiration, glycolysis. They frequently do not complete the second step, oxidative phosphorylation.
This results in only 2 molecules of ATP per each glucose molecule instead of the 36 or so ATPs healthy cells gain. As a result, cancer cells need to use a lot more sugar molecules to get enough energy to survive.
introduction to WARBERG PHENOMENA:
WARBURG EFFECT Usually, cancer cells are highly glycolytic (glucose addiction) and take up more glucose than do normal cells from outside.
Otto Heinrich Warburg (; 8 October 1883 – 1 August 1970) In 1931 was awarded the Nobel Prize in Physiology for his "discovery of the nature and mode of action of the respiratory enzyme.
WARNBURG EFFECT : cancer cells under aerobic (well-oxygenated) conditions to metabolize glucose to lactate (aerobic glycolysis) is known as the Warburg effect. Warburg made the observation that tumor slices consume glucose and secrete lactate at a higher rate than normal tissues.
A brief information about the SCOP protein database used in bioinformatics.
The Structural Classification of Proteins (SCOP) database is a comprehensive and authoritative resource for the structural and evolutionary relationships of proteins. It provides a detailed and curated classification of protein structures, grouping them into families, superfamilies, and folds based on their structural and sequence similarities.
Chromosome structure and packaging of dnaDIPTI NARWAL
Chromosome structure : classification based upon centromere position, autosomes and allosomes
Morphology of chromosome: chromatids, chromomeres, telomeres, sister chromatids
packaging of DNA: nucleosome model
functions of Chromosomes
Overview of study
A vector is an organism that does not cause disease itself but spreads infection by conveying pathogens from one host to another. Some Species of mosquito, for example, serve as vectors for the deadly disease such as Malaria (Wilson et al, 2017).
Disease is any harmful deviation from the normal structural or functional state of an organism, generally associated with certain signs and symptoms and differing in nature from physical injury.
A diseased organism commonly exhibits signs or symptoms indicative of its abnormal state. Mosquitoes are common, flying insects that live in most parts of the world. Over 3,500 types of mosquitoes can be found worldwide (Hardstone et al, 2012).Not all mosquitoes bite people or animals.
When mosquitoes bite people, the most common reactions to the bite are itching and swelling. Some mosquitoes can be vectors. The germs (viruses and parasites) that mosquitoes spread can make people sick. Some mosquitoes bite, but do not spread germs. These types of mosquitoes are called nuisance mosquitoes (Becker et al, 2010).
Causes of Heritability by Structural and Numerical chromosome changes fenta assefa
Chromosomes are thread-like molecules that carry hereditary information for everything.
They are made of protein and one molecule of DNA, which contains an organism’s genetic instructions, passed down from parents In humans, animals, and plants, most chromosomes are arranged in pairs within the nucleus of a cell
Cancer cell metabolism: special Reference to Lactate PathwayAADYARAJPANDEY1
Normal Cell Metabolism:
Cellular respiration describes the series of steps that cells use to break down sugar and other chemicals to get the energy we need to function.
Energy is stored in the bonds of glucose and when glucose is broken down, much of that energy is released.
Cell utilize energy in the form of ATP.
The first step of respiration is called glycolysis. In a series of steps, glycolysis breaks glucose into two smaller molecules - a chemical called pyruvate. A small amount of ATP is formed during this process.
Most healthy cells continue the breakdown in a second process, called the Kreb's cycle. The Kreb's cycle allows cells to “burn” the pyruvates made in glycolysis to get more ATP.
The last step in the breakdown of glucose is called oxidative phosphorylation (Ox-Phos).
It takes place in specialized cell structures called mitochondria. This process produces a large amount of ATP. Importantly, cells need oxygen to complete oxidative phosphorylation.
If a cell completes only glycolysis, only 2 molecules of ATP are made per glucose. However, if the cell completes the entire respiration process (glycolysis - Kreb's - oxidative phosphorylation), about 36 molecules of ATP are created, giving it much more energy to use.
IN CANCER CELL:
Unlike healthy cells that "burn" the entire molecule of sugar to capture a large amount of energy as ATP, cancer cells are wasteful.
Cancer cells only partially break down sugar molecules. They overuse the first step of respiration, glycolysis. They frequently do not complete the second step, oxidative phosphorylation.
This results in only 2 molecules of ATP per each glucose molecule instead of the 36 or so ATPs healthy cells gain. As a result, cancer cells need to use a lot more sugar molecules to get enough energy to survive.
Unlike healthy cells that "burn" the entire molecule of sugar to capture a large amount of energy as ATP, cancer cells are wasteful.
Cancer cells only partially break down sugar molecules. They overuse the first step of respiration, glycolysis. They frequently do not complete the second step, oxidative phosphorylation.
This results in only 2 molecules of ATP per each glucose molecule instead of the 36 or so ATPs healthy cells gain. As a result, cancer cells need to use a lot more sugar molecules to get enough energy to survive.
introduction to WARBERG PHENOMENA:
WARBURG EFFECT Usually, cancer cells are highly glycolytic (glucose addiction) and take up more glucose than do normal cells from outside.
Otto Heinrich Warburg (; 8 October 1883 – 1 August 1970) In 1931 was awarded the Nobel Prize in Physiology for his "discovery of the nature and mode of action of the respiratory enzyme.
WARNBURG EFFECT : cancer cells under aerobic (well-oxygenated) conditions to metabolize glucose to lactate (aerobic glycolysis) is known as the Warburg effect. Warburg made the observation that tumor slices consume glucose and secrete lactate at a higher rate than normal tissues.
A brief information about the SCOP protein database used in bioinformatics.
The Structural Classification of Proteins (SCOP) database is a comprehensive and authoritative resource for the structural and evolutionary relationships of proteins. It provides a detailed and curated classification of protein structures, grouping them into families, superfamilies, and folds based on their structural and sequence similarities.
This presentation explores a brief idea about the structural and functional attributes of nucleotides, the structure and function of genetic materials along with the impact of UV rays and pH upon them.
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 .
Comparing Evolved Extractive Text Summary Scores of Bidirectional Encoder Rep...University of Maribor
Slides from:
11th International Conference on Electrical, Electronics and Computer Engineering (IcETRAN), Niš, 3-6 June 2024
Track: Artificial Intelligence
https://www.etran.rs/2024/en/home-english/
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.
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.
Nutraceutical market, scope and growth: Herbal drug technologyLokesh Patil
As consumer awareness of health and wellness rises, the nutraceutical market—which includes goods like functional meals, drinks, and dietary supplements that provide health advantages beyond basic nutrition—is growing significantly. As healthcare expenses rise, the population ages, and people want natural and preventative health solutions more and more, this industry is increasing quickly. Further driving market expansion are product formulation innovations and the use of cutting-edge technology for customized nutrition. With its worldwide reach, the nutraceutical industry is expected to keep growing and provide significant chances for research and investment in a number of categories, including vitamins, minerals, probiotics, and herbal supplements.
Professional air quality monitoring systems provide immediate, on-site data for analysis, compliance, and decision-making.
Monitor common gases, weather parameters, particulates.
Earliest Galaxies in the JADES Origins Field: Luminosity Function and Cosmic ...Sérgio Sacani
We characterize the earliest galaxy population in the JADES Origins Field (JOF), the deepest
imaging field observed with JWST. We make use of the ancillary Hubble optical images (5 filters
spanning 0.4−0.9µm) and novel JWST images with 14 filters spanning 0.8−5µm, including 7 mediumband filters, and reaching total exposure times of up to 46 hours per filter. We combine all our data
at > 2.3µm to construct an ultradeep image, reaching as deep as ≈ 31.4 AB mag in the stack and
30.3-31.0 AB mag (5σ, r = 0.1” circular aperture) in individual filters. We measure photometric
redshifts and use robust selection criteria to identify a sample of eight galaxy candidates at redshifts
z = 11.5 − 15. These objects show compact half-light radii of R1/2 ∼ 50 − 200pc, stellar masses of
M⋆ ∼ 107−108M⊙, and star-formation rates of SFR ∼ 0.1−1 M⊙ yr−1
. Our search finds no candidates
at 15 < z < 20, placing upper limits at these redshifts. We develop a forward modeling approach to
infer the properties of the evolving luminosity function without binning in redshift or luminosity that
marginalizes over the photometric redshift uncertainty of our candidate galaxies and incorporates the
impact of non-detections. We find a z = 12 luminosity function in good agreement with prior results,
and that the luminosity function normalization and UV luminosity density decline by a factor of ∼ 2.5
from z = 12 to z = 14. We discuss the possible implications of our results in the context of theoretical
models for evolution of the dark matter halo mass function.
Earliest Galaxies in the JADES Origins Field: Luminosity Function and Cosmic ...
chromosomalabnormalitiesppt.pptx
1. Topic: Structural and numerical
variations in chromosomes and
their implication
Tabassum
2. TABLE OF CONTENT
Structure of chromosomes
1. Structural Changes (Variations in Chromosome structure):
Deletions
Duplications
Translocations
Inversions
2. Numerical Changes (Variations in Chromosome Number):
a. Aneuploidy:
Hypoploidy
Hyperploidy
b. Euploidy:
Monoploidy
Polyploidy
Autopolyploid and allopolyploid
Implication of chromosomal aberrations in plant breeding and crop improvement
3. What are chromosomes?
Chromosomes are the structures that hold
genes. These are made up of a long DNA
molecule with part or all of the genetic
material of an organism.
Most eukaryotic chromosomes include
packaging proteins called histones bind to
and condense the DNA molecule to
maintain its integrity.
Many chromosomes have two segments,
called arms, separated by a pinched
region known as the centromere. The
shorter arm is called the p arm. The
longer arm is called the q arm.
4. 1. Structural Change (Variations in Chromosome structure)
Any change which alter the basic chromosome structure is known as
structural change.
Chromosomes are the vehicle of hereditary material or genes. Any
alteration, addition or deletion of chromosomal part leads to alteration
of number, position or sequence of genes in the chromosome.
These changes are categorized into four classes-
Deletions
Duplications
Translocations
Inversions
5. Deletions
A portion of the chromosome is missing or deleted. The chromosome becomes shorter
due to loss of one or more genes.
7. Translocations
A portion of one chromosome is transferred to
another chromosome. There are three main
types of translocation.
Simple translocation- In simple translocation,
segment from one chromosome will break and
attached to another chromosome.
Reciprocal translocation- In a reciprocal
translocation, segments from two different
chromosomes have been exchanged.
8. Robertsonian translocation-
In a Robertsonian
translocation, an entire
chromosome arm has attached
to another at the centromere.
Loss of chromosomal segment.
9. Inversions
A portion of the chromosome has broken off, turned upside down, and reattached. As a result, the genetic
material is inverted.
An inversion is produced when there are two breaks in a chromosome and the intercalary segment reunites
in reverse order i.e., the segment rotate by 180°.
Inversion is of two types-
Pericentric inversion- If the inverted segment includes the centromere, the inversion is called pericentric
inversion;
Paracentric inversion- If it does not include centromere the inversion is called as paracentric inversion.
10. 2. Numerical Changes (Variations in Chromosome Number)
The organisms are usually diploid (2n), i.e., they possess two sets of
chromosomes.
A deviation from the diploid state represents a numerical chromosomal
aberration which often referred as heteroploidy.
Individual possessing the variant chromosome numbers are known as
heteroploids
Heteroploidy can be mainly of two types
(1) Aneuploidy
(2) Euploidy
11. (1) Aneuploidy
It involves addition or deletion of one or few chromosomes to the usual diploid set
of chromosomes.
Aneuploid changes in chromosome number do not involve the whole genome.
13. (ii) Nullisomy
These arise by the loss of a particular pair of chromosomes i.e.,
2n-2.
14. Hyperploidy (i) Trisomy
These arise by addition of an extra chromosome to the normal diploid set with
the genetic formula, 2n + 1.
15. (ii) Tetrasomy
These arise by the addition of an extra pair of chromosome to the diploid set with a chromosomal
formula 2n + 2.
By this a particular chromosome is represented in four doses instead of normal two.
16. (2) Euploidy
Normally organism possesses two sets of chromosomes i.e., they are diploid
(2n).
At times there is addition or loss of complete one set (n) or more than one set
of chromosomes is observed. It is called as euploidy.
Euploidy is of following types:
Monoploidy: Presence of a single copy of a single genome is known as
monoploidy, denoted by x.
Polyploidy: Organisms having more than two normal sets of chromosomes
(2n) are called polyploids.
Organisms with three sets of chromosomes (2n + n) = 3n, are triploids.
Those with four sets of chromosomes (2n + 2n) = 4n, are tetraploids and those
with five sets (2n + 3n) = 5n, are pentaploids and so on.
17.
18. There are two major kinds of polyploids according to the
origin of chromosomes-
Autopolyploid and allopolyploid
Autopolyploids are those polyploids which have same basic set of chromosomes
multiplied.
For instance, if a diploid species has two similar sets of chromosomes (AA), an
autotriploid will have three similar sets (AAA) and an autotetraploid will have four
such sets (AAAA).
Allopolyploids are those polyploids which contains two or more distinct (different)
genomes.
If we double the chromosome number in a F1 hybrid (AB) which is derived from two
distinctly different species, the resulting polyploidy will be allotetraploid (AABB).
common wheat is an allohexaploid having genome configuration AABBDD (three
distinct species).
19. Implication of chromosomal aberrations in plant breeding and
crop improvement
Aneuploids have been used to determine the phenotypic effects of loss or gain of
different chromosomes.
Aneuploids are also used to produce alien addition and alien substitution lines which
are useful in gene transfer from one species to another.
Aneuploid analysis permits the identification of location of a gene onto a specific
chromosome
Aneuploids are useful in the identification of chromosomes involved in translocation.
Chromosome doubling of haploids produces homozygous disomic plants (2n) (double
haploids) in just two years as compared to 6-7 generations required for their production
through selfing.
20. Triploid watermelons are produced by crossing tetraploid (4x female) and
diploid (2x male) lines. These watermelons produce only rudimentary seeds
which are not objectionable when chewed.
Triploid sugarbeet produce larger roots and more sugar per unit area than
diploids.
Autotetraploid varieties of some forage crops like Clove variety Tora, and
Berseem variety Pusa Giant have been released for commercial cultivation.
Many ornamentals are autotetraploids, they generally have larger flower and
longer flower duration than do doploids.