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CYTOGENETICS
LESSON 1
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Nagh Farah A. Bang
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Our inherited traits, quirks, and
illnesses
arise
from the activities of cells
Understanding cell function reveals how a
healthy
body
works
and develops from one cell to trillions
Understanding what goes wrong in certain cells to cause
symptoms
can suggest ways to treat the condition
Our bodies include more than
290
specialized
cell
types
that form the four basic tissue types: Epithelial, Connective, Muscle, and Nervous tissue
Somatic cells (body cells) are
diploid
, having
two
copies of the genome
Germ cells (sex cells), such as sperm and egg cells, are
haploid
, having
one
copy
of the genome
The
genome
is the set of DNA or genetic information in an organism
All cells share features enabling them to perform basic life functions like
reproduction
,
growth
,
response
to
stimuli
, and
energy
use
Specialized characteristics emerge as cells express different
subsets
of
protein-encoding
genes
Prokaryotic
cells do not have a nucleus, while eukaryotic cells have nuclei and all multicellular organisms
Cells are composed of molecules, including macromolecules like carbohydrates, lipids, proteins, and nucleic acids
Carbohydrates provide energy and contribute to cell structure, with monosaccharides as building blocks
Lipids form hormones, membranes, provide insulation, and store energy, with glycerol and fatty acids as building blocks
Proteins enable various functions in the body, with amino acids as building blocks
Enzymes are proteins that facilitate biochemical reactions
Nucleic acids translate information from past generations into specific collections of proteins
Lactase deficiency affects the breakdown of lactose, causing digestive issues
Familial hypercholesterolemia results from a mutation reducing protein receptors for cholesterol, leading to heart issues
Maple syrup urine disease
causes urine to smell like
maple syrup
due to
amino acid accumulation
in the bloodstream
Lesch-Nyhan syndrome is caused by a deficiency of the enzyme HGPRT, leading to various symptoms and intellectual disabilities
Biotinidase deficiency slows the body's use of biotin, affecting various functions
Wilson disease
results in
copper buildup
in the body, affecting
liver function
and causing distinct
physical signs
Cells contain
organelles
like the
nucleus
,
endoplasmic reticulum
,
Golgi apparatus
,
vesicles
, and
exosomes
The nucleus is a prominent organelle containing DNA and is the nerve center of the cell
The
endoplasmic reticulum
is where most
protein synthesis
occurs, with rough
ER
containing ribosomes and smooth
ER
for lipid synthesis
The
Golgi
apparatus
processes
and packages
proteins
and
lipids
for
secretion
Exosomes
are
vesicles
that transport
molecules
between
cells
, aiding in
communication
and
waste removal
Secretion is the
release
of
substances
from a
cell
, involving various
organelles
and
processes
Caseins are nutritive proteins that protect against infection and enzymes
Lactocytes
are epithelial cells involved in
milk production
Organelles like the nucleus, endoplasmic reticulum, Golgi apparatus, and vesicles play crucial roles in
cellular functions
Exosomes
are small vesicles that aid in
intercellular communication
and
waste removal
Exosomes:
Size: 30 to 100 nanometers in diameter
Functions: remove debris, transport immune system molecules, provide communication network among cells
Process of secretion:
Body sends biochemical message to cell to produce substance
Genes copied into messenger RNA (mRNA) which exits nucleus
In cytoplasm, mRNAs with ribosomes and transfer RNA (tRNA) direct manufacture of milk proteins, including caseins
Protein synthesis:
Begins on rough ER when attached to ribosomes
Amino acids linked in cytoplasm following mRNA's sequence to form proteins
Rough ER leads to smooth ER where lipids are made and added to proteins
Proteins exit ER in vesicles, which pinch off from membrane
Lysosomes:
Sac containing digestive enzymes
Degrades debris, recycles cell contents
Functions: dismantle bacterial remnants, worn-out organelles, excess cholesterol
Engages in autophagy (cells disposing its own trash)
Mitochondria:
Provide energy by breaking chemical bonds in nutrient molecules
Structure: two membranes, inner membrane enzyme-studded
Releases energy in form of ATP
Cristae: folds of inner membrane hold enzymes for energy release
Biological membranes:
Structure
:
double layer of phospholipids
Phospholipids
:
fat molecule
with
attached phosphate groups
Phosphate end
is
hydrophilic
,
attracted
to
water
Two tails
are
hydrophobic
, move
away
from
water
Proteins
act as
gates
, carry
carbohydrates
inside
cell
Specificity
:
particular transport molecules fit specific gates
Plasma membrane enables cell-to-cell communication:
Receptors
:
extend
from
plasma membrane
Ligands
:
molecules
that
bind
to
receptors
,
trigger chemical reactions
Processes
:
signal transduction
,
cellular adhesion
Cytoskeleton:
Meshwork
of
protein rods
and
tubules
Functions
:
cell's architecture
,
positioning organelles
,
providing 3D shape
Includes three major types of
proteins
:
microtubules
,
microfilaments
,
intermediate filaments
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