Download Cells

Human Genetics
Cells
Great Web Sites
http://www.johnkyrk.com/
 Nice animations of various cellular processes
http://users.rcn.com/jkimball.ma.ultranet/
BiologyPages/A/AnimalCells.html
 Guide to specific organelles
http://publications.nigms.nih.gov/insidethe
cell/index.html
 Inside the Cell- comprehensive web site from
NIH
Cells are fundamental units of life
Inherited traits can be understood at both
the cellular and molecular level.
At the molecular level, we can identify the
gene, the mutation, and the role of the
protein.
At the cellular level, we can see how the
protein affects the cell and the whole
organism.
Duchenne’s Muscular Dystrophy
Cystic Fibrosis
Sickle Cell Anemia
Cells are made of biomolecules
Carbohydrates
Lipids
Proteins
Nucleic Acids
Vitamins
Minerals
Eukaryotic Cells are complex
Nucleus: Largest structure in cells
Nucleus is the Cell’s Brain
Nuclear membrane
Double membrane
Nuclear pores
Nuclear trafficking
Nucleolus
RNA production
Chromosomes
genetic material
Secretion: Milk Production
Cells have specialized networks to
manufacture and deliver products
Rough ER is covered with
ribosomes and prepares
newly made proteins;
smooth ER specializes in
making lipids and breaking
down toxic molecules.
Golgi Apparatus
The Golgi apparatus receives newly made
proteins and lipids from the ER, puts the
finishing touches on them, addresses them,
and sends them to their final destinations.
Plasma membranes control external
environment/cell communication.
Plasma membranes are a
complex phospholipid bilayer
supported by a layer of protein
fiber supports.
The membranes are studded
with other lipids (like
cholesterol) traveling together
in rafts.
They also contain proteins
which act as receptors.
Receptors are structures that
recognize and bind ligands,
setting in motion a signal
transduction pathway.
Signal Transduction is important
role of cell membrane components
Intracellular Digestion
 Eukaryotic cells break down
molecules as well as produce
them.
 Lysosomes break down
bacteria as well as worn-out
organelles by fusing their
membranes and then
releasing digestive enzymes.
 Then they dump their contents
outside the cell by fusing with
the plasma membrane. Many
components are also recycled
within the cell for other
metabolic processes.
Lysosomes: Fuse with vesicles and
organelles to recycle components
Peroxisomes:
filled with detoxification enzymes
Mitochondria
 Mitochondria have an outer
membrane, and an inner membrane.
The inner membrane is four or five
times larger than the outer membrane.
It doubles over in many places,
extending long folds into the center of
the organelle.
 These folds dramatically increase the
surface area available to the cell
machinery that makes ATP.
 The mazelike space inside
mitochondria is filled with hundreds of
enzymes, DNA (mitochondria have
their own genetic material), special
mitochondrial ribosomes, and other
molecules necessary to turn on
mitochondrial genes.
Cytoskeleton
actin filaments
appear light purple,
microtubules yellow,
and nuclei greenish
blue.
http://publications.nig
ms.nih.gov/insidethec
ell/extras/tomogram.
mov
Cytoskeleton is made of protein
rods and tubules
Epidermolysis Bullosa
Abnormal intermediate filaments in the skin cause
epidermolysis bullosa, a rare genetic disease.
The fragile skin and recurrent blister formation,
result from minor mechanical friction or trauma
Red Blood Cell Plasma Membrane
Hereditary
spherocytosis is a
disease caused by a
defect of the ankyrin in
the RBC plasma
membrane.
It causes the plasma
membrane to collapse
in the turbulent forces
of the circulation and
the cell to balloon out.
Apoptosis: Programmed Cell Death
Organelle Dimensions are
Nanoscale
A micrometer is one millionth (10-6) of a meter.
A nanometer is one billionth (10-9) of a meter.
Stem Cells offer new insights into
human genetics
All cells descend from stem cells
Therapeutic use of stem cells