Thursday, October 22, 2015

Ch 7 Cell Structure and Function

7.1 
Life is Cellular

Can we just keep dividing a living organism in half and it still be alive?

There is a limit. The smallest living unit of any organism is the cell.

As is usual, discoveries in one science lead to new discoveries in other sciences. With the invention of the microscope, we were able to then discover that living things were made of cells.

Robert Hooke used an early compound microscope to look at a nonliving thin slice of cork. He called the chambers "cells" because they resembled the cells that monks lived in. 


Anton van Leeuwenhoek used a single-lens microscope to observe pond water. The microscope revealed many tiny creatures previously unseen to the naked eye. He drew pictures of his findings.



The work of three men, Schleiden, Schwann, and Virchow, was eventually tested and confirmed by many biologists and became known at the Cell Theory.

The Cell Theory
1. All living things are made up of cells
2. Cells are the basic units of structure and function in living things
3. New cells are produced from existing cells

Most microscope focus light or electrons on an object to magnify an image. 

Light Microscopes
A typical light microscope allows light to pass through a specimen and uses two lenses to form an image. The first lens, called the objective lens, is located just above the specimen. The second lens, the ocular lens, magnifies this image still further.

Light microscopes can produce clear images of objects only to a magnification of about 1000X.
Because cells are transparent, we use chemical stains or dyes to reveal certain compounds or structures in the cell.
Fluorescent dyes can be attached to specific molecules and can then be made visible using a special fluorescence microscope. 


Electron Microscopes
Electron microscopes use beams of electrons that are focused by magnetic fields. They offer much higher resolution than light microscopes.
Electron microscopes use beams of electrons that are focused by magnetic fields. Some electron microscopes can offer resolution up to 1 billionth of a meter in size.
Two type of electron microscopes:
Scanning Electron Microscopes (SEM) - a pencil-like beam of electrons is scanned over the surface of a specimen. SEMs allow a 3D image to be viewed.

Transmission Electron Microscope (TEM) - make it possible to explore cell structures and large protein molecules. The beams of electrons can only pass through thin samples, cells and tissues must be cut into ultrathin slices before they can be examined. For this reason, images are 2D.
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TEM

Prokaryotes and Eukaryotes
Cells come in many shapes and sizes. Typical cells range from 5-10 micrometers in diameter. The smallest Mycoplasma bacteria are 0.2 micrometers across. The giant one-celled amoeba Chaos chaos is up to 1 mm in diameter, and can be seen as a tiny speck in pond water.

All cells at some point in their lives contain DNA.

All cells are surrounded by a thin flexible barrier called a cell membrane.

Cells fall into two categories:

Eukaryotes - DNA is enclosed in a membranes bound nucleus
Prokaryotes - DNA is not enclosed in a membrane bound nucleus

The simplest organisms (bacteria) are prokaryotic. The more complex organisms (plants and animals) are eukaryotic.

For Powerpoint 7.1 click here



7.2 Cell Structure

Eukaryotic cells have many structures, each with an important role in the cell and the organism as a whole. These structures are called organelles, literally meaning "little organs".

Cytoplasm (Cell juice) -a jelly-like substance that is the portion of the cell outside the nucleus where the other organelles float.

The nucleus contains nearly all the cell's DNA and, with it, the coded instructions for making proteins and other important molecules. The DNA is the hereditary material which is passed from generation to generation of cells.





The nucleus is surrounded by a nuclear envelope composed of two membranes. The envelope is dotted with thousands of nuclear pores, which allow material to more into and out of the nucleus.  A steady stream of proteins, RNA, and other molecules move through the nuclear pores to and from the rest of the cell.
Chromatin, uncoiled chromosomes, a complex of DNA bound to proteins, is found in the nucleus. 

Most nuclei contain a small dense region known as the nucleolus, where the assembly of ribosomes begins.

Storage, Clean Up, and Support Organelles

Vacuoles are large, saclike, membrane-enclosed structures which store materials like water, salts, proteins, and carbohydrates.


Plants tend to have one main large vacuole called a central vacuole which stores much of the water in a plant.


Paramecium have a contractile vacuole, which pumps excess water out of the cell, propelling them through water.



Lysosomes are small organelles filled with enzymes. They break down lipids, carbohydrates, and proteins into small molecules that can be used by the rest of the cell. They are also involved in breaking down organelles that have outlived their usefulness. A number of serious human diseases can be traced to lysosomes that fail to function properly.


The cytoskeleton gives eukaryotic cells their shape and internal organization by a network of protein filaments. It also helps provide movement for the cell. Two kinds of proteins make up part of the cytoskeleton:

Microfilaments are threadlike structures made up of a protein called actin. They form extensive networks in some cells and produce a tough flexible framework. 


Microtubules are hollow structures made up of proteins known as tubulins. These play a critical role in cell shape. They are also important in cell division where they form the mitotic spindle. In animal cells, they also form structures call centrioles which are located near the nucleus and help organize cell division.

Microtubules help build projections from the cell surface known as cilia and flagella. In these structures, microtubules are lined up in a 9 + 2 formation producing controlled movements.


Organelles that Build Proteins

Living things are always working, building new molecules all the time, especially proteins which have multiple uses. 

Proteins are assembled on ribosomes. Ribosomes are small particles of RNA and protein found throughout the cytoplasm in all cells. They produce proteins by following coded instructions that come from DNA.  

Smooth ER is a site of cell detoxification and synthesis of membrane lipids.

Endoplasmic Reticulum is an internal membrane system. The "ER" is where lipid components of the cell membrane are assembled, along with proteins and other materials that are exported from the cell.
The Rough ER is involved in the synthesis of proteins. It is called "rough" because that is where the ribosomes are found. Newly made proteins leave these ribosomes and are inserted into the rough ER, where they may be chemically modified.



Proteins made on the rough ER include those that will be released, or secreted, from the cell as well as many membrane proteins and proteins destined for lysosomes and other specialized location within the cell. Rough ER is abundant in cells that produce large amounts of protein for export.

Proteins then travel to the Golgi Apparatus, a stack of flattened membranes, where they are modified, sorted, and packaged according to the instructions sent with them from the DNA/RNA. They may leave the Golgi inside vesicles and go live inside the cell, outside the cell, or in the cell membrane.


Organelles that Capture and Release Energy

Cloroplasts are the bio equivalents of solar power plants. Chloroplasts capture energy from sunlight and convert it into food that contains chemical energy in a process called photosynthesis.


Mitochondria are the power plants of the cell. They convert chemical energy stored in food into compounds that are more convenient for the cell to use (ATP). All mitochondria come from the mother.



Cellular Boundaries

Cell walls are found in plants and prokaryotes (bacteria) and they provide strong support for the cell while allowing gases and water needed for photosynthesis to pass through.

All cells have cell membranes. The membrane is composed of a lipid bilayer with transport proteins and carbohydrate chains imbedded in it. The phospholipid has a water-loving (hydrophilic) head and water-hating (hydrophobic) tails. 

The membrane is referred to as the Fluid Mosaic Model and is selectively permeable, allowing only certain substances to pass through.







7.3 Cell Transport

The cell membrane is a selectively permeable membrane, meaning that some substance can pass across them and others cannot.



Passive Transport
Passive transport is the movement of materials across the cell membrane without using cellular energy. There are 3 types of passive transport:

1. Diffusion

 In any solution, solute particles move constantly. They collide with one another and tend to spread out randomly. As a result, the particles tend to move from an area where they are more concentrated to an area where they are less concentrated. This process is called diffusion. Diffusion, which does not require energy, is the driving force for many substances moving across the cell membrane.

A net movement from an area of high concentration to an area of lower concentration will continue until the concentrations of solute on both sides of the membrane are equal, or equilibrium is reached.


2. Facilitated Diffusion

Sometimes molecules are too large to pass through the lipid bilayer, or they are not soluble in the lipid layer, and must be given a different and larger pathway. Some proteins embedded in the membrane have channels for these larger molecules to pass through. These "channel proteins" allow larger substances to diffuse through the membrane through diffusion. The proteins help the substance to pass through, thereby, facilitating the process. This process is known as facilitated diffusion.




Aquaporins are proteins that are specific for facilitating water to diffuse through a cell membrane.

3. Osmosis

Osmosis is the diffusion of water through a selectively permeable membrane. If a solute cannot move through a cell membrane, then water will move through aquaporins to create the equilibrium. 




When two solutions on either side of a membrane are the same solute strength, the solution is said to be isotonic.

When the solution outside a cell has a higher solute concentration than inside, the solution is said to be hypertonic.

When the solution outside the cell has a lower solute concentration than inside, the solution is said to be hypotonic.

Water molecules move equally into and out of cells placed in an isotonic solution. In a hypertonic solution, animal cells, like the red blood cell shown, shrink, and plant cell central vacuoles collapse. In a hypotonic solution, animal cells swell and burst. The central vacuoles of plant cells also swell, pushing the cell contents out against the cell wall.

Osmotic Pressure is the force produced by the net movement of water out of or into a cell driven by differences in solute concentration.

Organisms like fish and amphibians that lay eggs in fresh water have cells that lack water channels so the eggs don't expand too much. Other organisms like bacteria and plant cells have cell walls that prevent the cells from expanding, even under tremendous osmotic pressure.

Active Transport

1. Molecular Transport

In active transport, cells must move materials against a concentration difference, or from high to low concentration. Active transport requires energy. Active transport of small molecules or ions across a cell membrane is generally carried out by transport proteins, called protein pumps, found in the membrane. These pumps use energy to move calcium, potassium, and sodium across cell membranes. This is necessary to create a muscle contraction or to send a nerve impulse. A considerable amount of energy is used in this process.



2. Bulk Transport

Larger molecules and even solid clumps of material can be transported by movements of the cell membrane known as bulk transport. 

Endocytosis is the process of taking material into the cell by means of infoldings, or pockets of the cell membrane.
The pocket that results breaks loose from the outer portion of the cell membrane and forms a vesicle or vacuole within the cytoplasm. Large molecules, clumps of food, even whole cells can be taken up in this way. 


The white blood cell seen here is engulfing a damaged red blood cell by phagocytosis.

Two specific types of endocytosis are
phagocytosis - cell eating
and pinocytosis - cell drinking

Exocytosis releases large amounts of material in bulk. The membrane of a vacuole surrounds the material and fuses with the cell membrane, forcing the contents out of the cell. 










7.4 Homeostasis and Cells

In order to survive, cells and organisms must maintain homeostasis, constant internal physical and chemical conditions.  To maintain homeostasis, unicellular organisms grow, respond to the environment, transform energy, and reproduce. 



Homeostasis is an issue for prokaryotic organisms because if the cell becomes unstable and dies, the organism dies. In eukarytotic organisms, one cell death will not normally affect the whole organism adversely. 

The cells of a multicellular organism rely on each other like the members of a baseball team. Each cell has become a specialist at it's job and is relied on by other cells and, vice versa. The cells of a multicellular organism become specialized for particular tasks and communicate with one another to maintain homeostasis. 

Specialized Animal Cells

Some human cells specialize to be cells which line the airways leading to the lungs. Since so much debris is entering the lungs all the time the body has to fight back to prevent particles in the air from building up in the lung aveoli where gas exchange takes place. One way this happens is due to the specialized cells which have cilia constantly pumping the debris caught in the mucus back up toward the opening it came in.


Plant sperm cells (pollen) have specialized with "wings" which help the pollen fly through the air, helping to spread it out, and increasing the chance of fertilization.

Levels of Organization

The cell is the smallest living unit. Specialized cells of multicellular organisms are organized into tissues, then into organs, and finally into organ systems, which make up the organism.

Cellular Communication
In multicellular organisms, cell communication is a must. Cells in large organisms communicate by means of chemical signals that are passed from one cell to another.
To respond to these chemical signals, the cells have receptors to which the signaling molecule can bind. The signal will tell the specialized cell to either speed up or slow down its job.

Some cells communicate through junctions between the cells seen below.

Gap junctions are connections between heart muscle cells so that they can communicate and contract in sync.

For Powerpoint 7.4 Click here

Monday, May 11, 2015

Ch 14
Human Heredity

14.1
Human Chromosomes

Karyotypes
A Human Karyotype
A typical human cell has 23 pairs of chromosomes. These chromosomes have been cut out of a photograph and arranged to form a karyotype.

A karyotype shows the complete diploid set of chromosomes grouped together in pairs, arranged in order of decreasing size. Scientists the but out the chromosomes from the photographs and arrange them in a picture.


Genome - The full set of genetic information that an organism carries in its DNA.

Sex Chromosomes - Two of the 46 chromosomes in the human genome are known as sex chromosomes, because they determine the sex of the individual. 

Males have one X chromosome and one Y chromosome (XY)

Females have two X chromosomes (XX)

Males and females are born in a roughly 50:50 ratio.

All human egg cells carry a single X chromosome.

Half of all sperm cells carry an X chromosome (23,X)
and half of all sperm cells carry a Y chromosome (23, Y)

This ensures that just about half the zygotes will be males and half will be females.




More than 1200 genes are found on the X chromosome. Not all of these are gender related.
The Y chromosome is much smaller  than the X chromosome and contains only about 140 genes, most of which are associated with male sex determination and sperm development.


Autosomes
The remaining 44 human chromosomes (pair 1-22) (not sex chromosomes) are called autosomes.

So, a human genome consists of 44 autosomes and 2 sex chromosomes.

Human Chromosomes
Human chromosomes follow several patterns of inheritance including:
Dominant and Recessive Alleles
Codominant Alleles
Incomplete Dominant Alleles
Multiple Alleles

Sex-Linked Inheritance
Genes that are located on the X and Y chromosomes are considered "sex-linked", even if they have nothing to do with the determination of sex.

Genes found on the Y chromosome are passed directly from father to son.

Because males only have one X chromosome, if there is a defect in a gene located on it, then the defective gene will be expressed. But, since females have two X chromosomes, a defective gene on only one of those chromosomes won't be expressed if it is recessive. Therefore, females can "carry" traits that may only show up in their sons if the son receives the defective chromosome. 

Colorblindness is one of those sex-linked chromosomes that usually only shows up in men who have received the defective X chromosome from their mother. If a female receives two defective alleles for a recessive disease, (one from each parent) then the female would express the disease. 
Because of this, colorblindness is much more prevalent in males (1 in 12) than in females (1 in 200).

X Chromosome Inactivation
Since females have two X chromosomes, female cells adjust by randomly switching off one of them. The "switched off" chromosome condenses and forms a "Barr Body" in the nucleus. Barr bodies are only found in females.
An example of how two different alleles (one on each X chromosome) show up in different locations on the body of the same organism is that of a calico cat. This cat has two different colored spots. The gene for spots is found on the X chromosome. In some locations on the cat's body, the X chromosome with the orange spot allele will be shut off, whereas, in other locations, the other X chromosome carrying the black spot allele would be shut off. The cat would have orange spots where the black allele is shut down, and black spots where the orange allele is shut down.





Pedigrees
A pedigree is a chart that shows the relationship within a family.  A pedigree shows the presence or absence of a trait according to the relationships between parents, siblings, and offspring.




The information gained from pedigree analysis makes it possible to determine the nature of genes and alleles associated with inherited human traits. Based on a pedigree, you can often determine if an allele for a trait is dominant or recessive, autosomal or sex-linked.


14.2
Human Genetic Disorders

Genes are expressed in the proteins they make.
Changes in a gene's DNA sequence can change proteins by altering their amino acid sequences, which may directly affect one's phenotype. 

Sickle Cell Disease
Sickle Cell Anemia is a disorder caused by a defective allele for a protein that makes up hemoglobin (Hg). The defective protein makes the Hg a bit less soluble, causing the Hg molecules to stick together when the blood's oxygen level decreases. The molecules club into long fibers, forcing cells into a distinctive sickle shape, which gives the disorder it's name.
Sickle shaped cells are more rigid than normal red blood cells and they tend to get stuck in the capillaries. If the blood stops moving through the capillaries, damage to cells, tissues, and organs can result.




Sickle cell is a recessive gene prevalent in African descendants. It shows up early in life.





Interestingly enough, people who have one or two sickle cell alleles are immune to another disease found primarily in Africa, Malaria.


Cystic Fibrosis
Another recessive disease, Cystic Fibrosis, is most common among European ancestry. CF is caused by the deletion of just three nitrogen bases in the gene for a protein which is involved in Cl- ion transport across the cell membrane. Since water follows salt, the lack of water causes the mucous membranes to secrete a very thick mucous which causes many problems including clogged ducts, gas exchange, and pneumonia.

People with one normal copy of the CF allele are unaffected by CF, because they can produce enough CFTR to allow their cells to work properly. Two copies of the defective allele are needed to produce the disorder because it is recessive. CF shows up early in life. The life expectancy is shortened.

People who carry the CF gene are resistant to Typhoid Fever caused by a bacteria.


Huntington's Disease
Huntington's is caused by a dominant allele for a protein found in brain cells. The allele for this disease contains a long string of bases in which the sequence CAG repeats itself over and over again. The more it repeats itself, the more severe the disease and the earlier the onset. However, this disease does not normally show itself until middle age. Huntington's Disease results in mental deterioration and uncontrollable movements.

Chromosomal Disorders

Most of the time, meiosis works perfectly and each human gamete gets exactly 23 chromosomes. But, every so often, an error in the separation of the chromosomes occurs. Nondisjunction which means "not coming apart" is the most common error in meiosis and occurs when the homologous chromosomes don't separate properly.
If nondisjunction occurs during meiosis, gametes with an abnormal number of chromosomes may result, leading to a disorder of chromosome numbers. 
If a gamete ends up with 3 homologous chromosomes, this is called a trisomy (three bodies).  The most common form of trisomy, involving 3 copies of chromosome 21, is Down syndrome.




Turner's Syndrome
A female with Turner's Syndrome usually inherits only one X chromosome. Women with Turner's syndrome are sterile and their sex organs do not develop properly at puberty.



Klinefelter's Syndrome
Males with this syndrome inherit an extra X chromosome which interferes with meiosis and usually prevents these individuals from reproducing. 



Down Syndrome (Trisomy 21)





***There have been no reported instances of babies being born without and X chromosome, indicating that this chromosome contains genes that are vital for the survival and development of the embryo.