Gene Expression: Transcription and

Translation
Protein synthesis requires two steps: transcription and translation



Transcription is when RNA is made from DNA. The information is
copied from one molecule to the other. The DNA sequence is
copied by a special enzyme calle d RNA polymerase to make a
matching RNA strand.
RNA polymerase is responsible for a process called transcription, which by
producing RNA from DNA, takes the first step in reading the blueprint of life that
is encoded in all of our genes
Nucleotides are chemical compounds, the building blocks of the nucleic
acids RNA and DNA.
A nucleotide is composed of a nucleobase (nitrogenous base), a five-carbon
sugar (either ribose or 2-deoxyribose), and onephosphate group.
Nucleotides contain either a purine or a pyrimidine base.
Ribonucleotides are nucleotides in which the sugar is ribose.
Deoxyribonucleotides are nucleotides in which the sugar is deoxyribose
In DNA, the purine bases are adenine and guanine, while the pyrimidines
are thymine and cytosine.
RNA uses uracil in place of thymine.
Adenine always pairs with thymine by 2 hydrogen bonds,
while guanine pairs with cytosine through 3 hydrogen bonds,

Kinds of RNA
RNA has a variety of different functions in the cell. Three of these are listed
below.
Messenger RNA (mRNA)
Messenger RNA contains genetic information. It is a copy of a portion of the DNA.
It carries genetic information from the gene (DNA) out of the nucleus, into the
cytoplasm of the cell where it is translated to produce protein.
Ribosomal RNA (rRNA)
This type of RNA is a structural component of the ribosomes. It does not contain a
genetic message.
Transfer RNA (tRNA)
Transfer RNA functions to transport amino acids to the ribosomes during protein
synthesis.

Small nuclear RNA (snRNA)
These strands of RNA are complexed with protein producing small nuclear
ribonucleoproteins (snRNP).

DNA contains codes
The simplistic diagram below illustrates the concept that three bases in DNA
code for one amino acid. The DNA code is copied to produce mRNA. Later in
this chapter, we will learn that RNA may be modified. The order of amino
acids in the polypeptide is determined by the sequence of 3-letter codes in
mRNA.

Eukaryotic genes contain regions that are not translated into proteins. These
regions of DNA are called introns (intervening sequences) and must be
removed from mRNA by a process called RNA splicing. Their function is not
well understood.
The remaining portions of DNA that are translated into protein are
called exons (expressed). After intron-derived regions are removed from
mRNA, the remaining fragments- derived from exons- are spliced together to
form a mature mRNA transcript.

The nucleus is the site of mRNA transcription
In addition to the production of rRNA and tRNA, the nucleus is responsible for
producing messenger RNA. This process is called transcription
The ribosome is the site of protein translation
The ribosome subunits attach to the mRNA and together slide along the RNA.
As the subunits pass along the RNA, transfer RNAs deliver amino acids as
coded by the sequence of nucleotides in the RNA. The ribosome proteins and
ribozymes catalyze the formation of the peptide bond between the amino
acids to provide the primary structure of the developing polypeptide.
Translation is the second part of protein biosynthesis (the making of
proteins). It is part of the process of gene expression.
Before translation comes:
transcription produces a chain of introns and exons.
RNA splicing by spliceosomes which remove introns, and
formulate the messenger RNA from exons.
In eukaryotes, translation happens on the ribosomes in the cytoplasm and in
the endoplasmic reticulum. In bacteria, translation happens in the
cell cytoplasm: they have no nucleus.
Is a human body cell diploid or haploid?

Diploid.
Only gametes are haploid. Your cells have DNA, and it comes in the form of
chromosomes. There are 23 different chromosomes in a set.
In a diploid cell, there are two sets, i.e. two copies of each chromosome,
making for a total of 46 chromosomes in that cell.
In a haploid cell, there's only one copy of each chromosome. Most of your
body's cells are diploid. Only the gametes, the sperm (in men) and the ova or
unfertilized eggs (in women), and the cells that divide to form them
(secondary oocytes) are haploid.
Homologous Chromosomes
Homologous chromosomes are two chromosomes that are the same. This
happens because diploid organisms have two of each chromosome. Each of
the pairs is a homologous pair.

Mitosis
Mitosis produces two daughter cells that are identical to the parent cell. If
the parent cell is haploid (N), then the daughter cells will be haploid. If the
parent cell is diploid, the daughter cells will also be diploid.
N --> N
2N --> 2N
This type of cell division allows multicellular organisms to grow and repair
damaged tissue.

Meiosis
Meiosis produces daughter cells that have one half the number
of chromosomes as the parent cell.
2N --> N
Meiosis enables organisms to reproduce sexually. Gametes (sperm and eggs)
are haploid.
Meiosis is necessary in sexually-reproducing organisms because the fusion of
two gametes (fertilization) doubles the number of chromosomes.
Meiosis involves two divisions producing a total of four daughter cells.

Meiosis functions to reduce the number of chromosomes to one half. Each
daughter cell that is produced will have one half as many chromosomes as the
parent cell.
Meiosis is part of the sexual process because gametes (sperm, eggs) have one
half the chromosomes as diploid (2N) individuals.
Phases of Meiosis
There are two divisions in meiosis; the first division is meiosis 1 and the
second is meiosis 2. The phases have the same names as those of mitosis. A
number indicates the division number (1st or 2nd):
meiosis 1: prophase 1, metaphase 1, anaphase 1, and telophase 1
meiosis 2: prophase 2, metaphase 2, anaphase 2, and telophase 2

In animals, meiosis occurs only when gametes (sperm, eggs) are formed.
Letters Can Represent Genes
The characteristics studied by Mendel were due to single genes. On the
pair of chromosomes diagrammed below, the letter "A" represents a gene
for yellow seeds. The letter "a" on thehomologous chromosome represents
a gene for green seeds. By convention, upper case letters are used to
represent dominant genes and lower case letters are used for recessive
genes.

Heterozygote (also called hybrid) refers to an individual that has two
different forms of the gene. Example: Aa
Homozygote refers to an individual that has two identical genes. Example: AA
or aa
A hybrid is a heterozygote. Example: Aa

Principle of Segregation
Mendels principle of segregation states that paired factors (genes) separate
during gamete formation (meiosis). Because the pair of genes (Aa, AA, or aa)
separate, one daughter cell will contain one gene and the other will contain
the other gene. (See diagram above.)
Gametes
Because pairs of chromosomes separate during meiosis I, gametes are haploid,
that is, they carry only one copy of each chromosome. An Aa individual
therefore produces two kinds of gametes: A and a.

Below: An "AA" individual produces all "A" gametes. Similarly,
an "aa" individual produces all "a" gametes
Individual (genotype) Type of gametes produced
AA all gametes will contain an "A"
Aa 1/2 will contain "A" and 1/2 will contain
"a"
aa all "a" gametes
Genotype Phenotype
AA or Aa Yellow
aa Green
Genotype and Phenotype

The genetic makeup of an individual is referred to as itsgenotype. Because
the plants are diploid, two letters can be used to write the genotype. In this
case, the genotype of the P
1
plants was YY; the genotype of the F
1
plants was
Yy.
The characteristics of an individual are its phenotpye. This word refers to
what the individual looks like so ddjectives are used to write the phenotype.
For example, "yellow" or "tall" are phenotypes.
Dosage Compensation
Although females have twice as many X-linked genes, the amount of protein
produced by these genes is the same in females as it is in males.
Reduced protein production (called dosage compensation) occurs as a result
of inactivating one X chromosome by coiling and condensing it. When
condensed, it cannot be transcribed, that is, it cannot be used to produce
mRNA.
Condensed X chromosomes, called Barr bodies, are visible using ordinary
light microscope techniques.
The table below shows the number of Barr bodies in normal cells and in the
cells of people with an abnormal number of X chromosomes. Normal males do
not have Barr bodies because they only have one X chromosome.
Genetic Condition # Barr Bodies per Cell
normal male 0
normal female 1
XXX female 2
XXXX female 3
XXY (Klinefelter male) 1


Karyotypes
Karyotypes are prepared using cells from amniocentesis, chorionic villi sampling, or
white blood cells.

Cells are photographed while dividing. cells are normally stained so that banding
patterns appear on the chromosomes. The bands make it easier to identify the
chromosomes. Banding patterns are not visible in the photograph below due to the
staining technique.

Pictures of the chromosomes
are cut out and arranged in
pairs according to size and
banding patterns.
Karyotypes can be used to
determine if there is an
abnormality in chromosome
number or structure
Nondisjunction
Nondisjunction occurs when chromosomes fail to "disjoin" during meiosis or mitosis.


Aneuploidy
Cells that have extra chromosomes or chromosomes missing are aneuploid. Two
types of aneuploidy are discussed below.
Monosomy refers to a condition in which there is one chromosome is missing. It is
abbreviated 2N - 1. For example, monosomy X is a condition in which cells have
only one X chromosome.
A trisomy has one extra chromosome and is abbreviated 2N + 1. Trisomy 21 is an
example of a trisomy in which cells have an extra chromosome 21.
Monosomies and trisomies usually result from nondisjunction during meiosis but
can also occur in mitosis. They are more common in meiosis 1 than meiosis 2.
They are generally lethal except monosomy X (female with one X chromosome)
and trisomy 21 (Downs Syndrome).
Affected individuals have a distinctive set of physical and mental characteristics
called a syndrome. For example, trisomy 21 is Down syndrome
Oogenesis is more likely to continue than spermatogenesis when a chromosomal
abnormality occurs. As a result, 80% to 90% of aneuploid (extra chromosomes or
chromosomes missing) fetuses are due to errors in meiosis I of the female.

Incidence of Genetic Abnormalities
Maternal Age
At 25 years, 17% of secondary oocytes may have chromosomal abnormalities. At 40
years, up to 74% may contain abnormalities.
Spontaneous Abortion (Miscarriage)
Two-thirds of all pregnancies are lost. These miscarriages are called spontaneous
abortions.
Genetic mutation causes an estimated 60% of these spontaneous abortions.
Autosomal Abnormalities
Nine percent of spontaneous abortions are trisomy 13, 18, or 21; but 0.1% of
newborns have these trisomies.

Down Syndrome
Down syndrome is trisomy 21. It is characterized by intellectual disability, an
abnormal pattern of palm creases, a flat face, sparse, straight hair, and short
stature. People with Down syndrome have a high risk of having cardiac
anomalies, leukemia, cataracts, and digestive blockages.
Life expectancy of Down syndrome individuals is 55 years.
The gene responsible for Alzheimers is on chromosome 21. Downs are at
increased risk for developing Alzheimers.
Down Syndrome is associated with maternal age. Older women, particularly
those
Trisomy 18 (Edward Syndrome)
The incidence of Trisomy 18 is approximately 1 out of every 3000 live births.
older than 40, are more likely to have a Down Syndrome child.
Trisomy 13 (Patau Syndrome)
The incidence of Trisomy 13 is is approximately 1 out of 16,000 live births.

Polyploidy
Polyploidy is a condition in which there is more than 2 sets of chromosomes.
Triploids (3N), tetraploids (4N), pentaploids (5N) etc. are polyploids.
Polyploidy in Humans
Polyploids have defects in nearly all organs.
Most die as embryos or fetuses. Occasionally an infant survives for a few days.



XXX - Triple-X Syndrome (also XXXX and XXXXX)
Triple-X individuals are tall and thin and have menstrual irregularities. Their
IQ is in the normal range but it is slightly reduced.
The incidence of Triple-X Syndrome is 1 in 1,500 female births.
Additional X chromosomes are associated with an increased intellectual
disability.
XXY - Klinefelter Syndrome (also XXXY)
Males with two or more X chromosomes have Klinefelter Syndrome.
The incidence of Klinefelter Syndrome is 1 in 1000 male births.
Symptoms include reduced sexual maturity and secondary sexual
characteristics, breast swelling (gynecomastia), and infertility. Klinefelter
males are slow to learn and individuals with additional Xs (XXXY) may be
intellectually handicapped.
XYY - Jacob Syndrome
Most XYY males are normal and are unaware of an additional chromosome.
XYY males tend to be tall and may have speech and reading problems.
Abnormalities of the Sex Chromosomes
Turner Syndrome - XO
Characteristics of Turner syndrome include the following:
Sexually underdeveloped
Short stature
Folds of skin on the back of the neck
Wide-spaced nipples
Narrow aorta
Pigmented moles
97% die before birth
Malformed elbows
Infertile
Normal Intelligence
The incidence of Turner syndrome is 1 in 2000 female births.
Turner syndrome individuals that are treated with hormones lead fairly normal
lives.
What are Dominant and Recessive?
The terms dominant and recessive describe the inheritance patterns of
certain traits. That is, they describe how likely it is for a certain phenotype to
pass from parent offspring.
Sexually reproducing species, including people and other animals, have two
copies of each gene. The two copies, called alleles, can be slightly different
from each other. The differences can cause variations in the protein thats
produced, or they can change protein expression. Proteins affect traits, so
variations in protein activity or expression can produce different phenotypes.
A dominant allele produces a dominant phenotype in individuals who have one
copy of the allele, which can come from just one parent. For a recessive
allele to produce a recessive phenotype, the individual must have two copies,
one from each parent. An individual with one dominant and one recessive
allele for a gene will have the dominant phenotype. They are generally
considered carriers of the recessive allele: the recessive allele is there, but
the recessive phenotype is not.

Dominance in genetics is a relationship between alleles of one gene, in which
one allele is expressed over a second allele at the same locus. The first allele
isdominant and the second allele is recessive. For genes on
an autosome (any chromosome other than a sex chromosome), the alleles and
their associated traits are autosomal dominant or autosomal recessive.

Inheritance patterns
Sickle-cell disease is an inherited condition that causes pain and damage to
organs and muscles. Instead of having flattened, round red blood cells, people
with the disease have stiff, sickle-shaped cells.
The disease has a recessive pattern of inheritance: only individuals with two
copies of the sickle-cell allele have the disease. People with just one copy are
healthy.

Autosomal Dominant
Severe dominant diseases are rare because carriers die before they get a chance
to reproduce and pass on the disease to their offspring.
Heterozygotes (Aa) have the trait.
Children with the trait have at least one parent that has the trait.
Both males and females are affected equally.
Neurofibromatosis (NF)
Neurofibramatosis is actually three separate genetic diseases that cause benign
tumors to grow on nerves.
The incidence is 1 in 3000 newborns.
The gene is on chromosome 17.
Huntingtons Disease
The brain cells of Huntington's victims slowly degenerate, producing jerking
muscles, slurred speech, swallowing difficulty, loss of balance, mood swings,
reasoning and memory loss, incapacitation, and eventually death (usually from
pneumonia or heart failure).