We're moving into the third characteristic
of life: genetics and reproduction, beginning with the definition of a
gene: a nucleotide sequence in the DNA that codes for a specific protein
(process: protein synthesis).
- Structure and chemical composition
of eukaryotic chromosomes
Remember the direct relationship between structure
and function. What is the structure of a chromosome? That's what this lecture
is all about: you & I (all eukaryotes) have chromosomes just like this:
- Chemical composition
The genetic material (DNA and its associated proteins)
does not leave the nucleus of a cell. It can be in either chromatin or
chromosome form: chromatin form when the DNA and associated proteins are
relaxed such that the DNA can be replicated or transcribed. In chromosome
form, the genetic material is tightly coiled (and, therefore, unable to
be replicated or transcribed).
- DNA
The DNA is the actual genetic material; (we've been
through the structure.)
- Proteins
Proteins associated with the DNA function in its
doing its genetic thing.
- Structural
One of the roles of proteins associated with DNA
is structural, as we'll discuss under 'nucleosomes' below.
- Enzymes
We've discussed the functional necessity of enzymes;
they are vital, as well, to the genetic processes of DNA.
- Structure and organization
What determines the form the genetic material takes,
be it chromatin or chromosme? Nucleosomes.
- Nucleosomes
10.1
Nucleosome
A nucleosome consists of 4 pairs of histone proteins and the DNA coiled
around them.
- histones form the core
The four pairs of histones that form the nucleosome
core function in coiling the DNA: some of these histone proteins have a
positive charge, attracting the negative charge on the phosphorous end
of the DNA. Thus, the DNA coils around the histones in a very precise way.
- DNA coil
In the above manner, the DNA is coiled around the
8-histone core like a spring.
- Spacer protein (also a histone)
A fifth type (H1, or spacer) is important in controlling
the spacing between 6 nucleosomes: functioning to either relax them (chromatin
form) or to condense them (chromosome form). If we compare the nucleosomes
to a spring (the coiled DNA) containing groups of 8 attached proteins (histone
core--as shown in the diagram),
then the spacer protein is like a flexible chain attached to the spring
& core, by which the they can be extended or compacted. (You can't,
in this case, just extend or compact the spring directly, but only by extending
or compacting the attached chain (spacer protein).)
- Primary function of nucleosomes
1) Important in packing and organizing the DNA (so
that it won't become tangled; like a rat's nest). 2) Nucleosomes also control
gene expression: (to be discussed momentarily).
- Classes of DNA
One way to classify the DNA is by the length of sequences
(number of nucleotides), which is often related to their
- Short repeat sequences
About 25% of DNA in any given organism and occur
in the centromere area. There is a DNA sequence (e.g. 'ACAAACT' in the
fruit fly is repeated about 12 million times) that is repeated one right
after the other and there is no evidence that is ever transcribed (though
it may be replicated) A chromosome's centromere functions 1) to hold copies
of the DNA together, and 2) in cell division: protein spindle fibers used
to separate chromosomes attach to the centromere.
- Moderate repeat sequences
Moderate length duplicated sequences (multiple copies
of the same gene.) About 10% of the DNA. Example: histone genes. Some are
repeated over 100,000 times (e.g. humans have more than 300 copies of the
gene that codes for rRNA.) Why have multiple copies of the same gene: to
produce a lot of a histone, for example, a cell needs a lot of that histone
producing gene (each gene, like a factory, can only produce at a certain
rate. If one histone factory can't supply what the cell demands, there
needs to be more factories (simple genetic economics 101?).
- Long nucleotide sequences
65% of DNA. Codes for structural proteins, (like
those in muscle).
(Then Stephanie spooled some DNA,
harvested from many, many intestinal E.Coli (bacterium) cells. It was mucousy,
in a transparent glob. Not something you want above your lip.)
- Chromosome structure and gene expression
Gene expression refers to the transcription and translation
of a gene. A gene is not expressed unless it's protein is produced, and
to the point of being functional. Not all translated proteins are immediately
functional. Some, like insulin, (after being synthesized in the ribosome)
need to be further modified before they are expressed (used for something).
For the protein insulin to function (be expressed) a certain length of
amino acids must be removed.
- Coiling of DNA (DNA tightly coiled
and therefore unavailable for transcription)
The first way in which gene expression may be controlled.
When tightly coiled, DNA is not available for transcription. (The nuclesomes
and spacer proteins play an important role in this coiling).
- Gene expression (DNA must be uncoiled
for a gene to be expressed)
The DNA must be uncoiled (in chromatin form) for
transcription, and, ultimately, translation to occur. Genes are expressed
through transcription (DNA-->mRNA) and translation: the synthesis of
proteins.
- Introns and exons
10.2
Intons & Exons
Introns and exons are segments on mRNA. Enzymes (small nuclear mRNA
(snRNA), an enzyme, cuts the mRNA at specific sites, separating the introns
from the exons. The introns are broken down into their component nucleotides,
while the EXONS are spliced together and shipped out of the nucleus to
where they can do their thing: translation: synthesis of proteins at the
ribosomes. (mRNA with introns is nonfunctional.)
- Transposons (or "jumping genes")
A scientist named Barbara McClintock (1940s) suggested
that genes could jump around. Studying corn, McClintock noted that jumping
genes were responsible for irregular pigmentation (color). Specifically,
if a gene "jumps" from one location to another on chromosome
#10 in the corn, it will be expressed as a brown (or whatever color) spot
on the kernel. 3 things to write down about transposons: 1 - jumping genes
can move from one spot on a chromosome to another on the same chromosome,
2 - jumping genes can move from one chromosome to another, 3 - those jumping
genes can move from one species to another. How? (didn't say.) (We're loaded
with transposons!--they are typical of all species.)
Other ways
to control gene expression: add a methyl group (CH3) to cytosine:
the added methyl group may turn off a gene (enable it to be expressed).
About 5% of DNA uses this mechanism.
Similarly, acetyl groups can be added/removed, turning a gene on/off. (The
adding and removing of these groups is enzyme driven.)
- Basic information concerning chromosomes
10.3
Eukaryotic Chromosomes
This information will help us in the near future: when we look at mitosis
and meiosis.
- Homologous or paired chromosomes
We have 46 chromosomes in our cells: 23 from each
parent: 2 sets of 23 homologous chromosomes. Homologous chromosomes have
the same gene sequence; not the same exact genes: on one homologous chromosome
you may have gene "A" (say, codes for brown eyes) while the other
may have gene "a" (blue eyes) which is a different. They both
code for the same trait (eye color) but are different genes.
- Chromatids
When a chromosome is replicated it is composed of
two sister chromatids. A chromatid is one of the two copies of the DNA
connected at the centromere. When the chromatids separate, they are no
longer referred to as chromatids, but as chromosomes. So, a chromosome
is replicated into two molecules of DNA. In this state it is still referred
to as a chromosome, but is now composed of two sister chromatids, which
are held together at the centromere. When the chromatids separate they
are no longer chromatids, but chromosomes. (Chromatids only exist as pairs.)
- Alleles
An allele is an alternate form of a gene. (In examples,
the alleles are often labeled 'A' and 'a', or by different colors, etc.)
Genes code for the same trait (example: ear-lobe attachment). Alleles code
for different expressions of the same trait (e.g. ear-lobe attachment:
either attached or free lobes). (I'm a free-lober.)
- Homozygous alleles
When alleles are the same: a-a.
- Heterozygous alleles
When alleles are different: A-a.
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