Gene Expression and Control

Chapter 7

7.2 The Nature of Genetic Information

DNA carries all the genetic information needed to build a new individual
Genetic information consists of base sequences Genes are subunits of that sequence

Gene
Part of a DNA base sequence Specifies structure of an RNA or protein product

From Gene to RNA to Protein

Gene expression involves transcription (DNA to RNA), and translation (mRNA, or messenger RNA, to protein) Gene expression
Process by which the information in a gene becomes converted to an RNA or protein product

Transcription
A genes nucleotide base sequence encodes instructions for building an RNA or protein product A cell transcribes the base sequence of a gene into mRNA mRNA carries a protein-building message

Transcription

Transcription
Process by which an RNA is assembled from nucleotides using the base sequence of a gene as a template

Messenger RNA (mRNA)

Type of RNA that has a protein-building message

Translation

Translation requires the participation of tRNA (transfer RNA) and rRNA (ribosomal RNA) Translation
Process by which a polypeptide chain is assembled from amino acids in the order specified by an mRNA

RNA and DNA Nucleotides

base (guanine)

3 phosphate groups

sugar (ribose)

An RNA nucleotide: guanine (G), or guanosine triphosphate

Fig. 7-2a, p. 117

base (guanine)

3 phosphate groups

sugar (deoxyribose)

A DNA nucleotide: guanine (G), or deoxyguanosine triphosphate

Fig. 7-2b, p. 117

7.3 Transcription: DNA to RNA

Base-pairing rules in DNA replication also apply to RNA synthesis in transcription, but RNA uses uracil in place of thymine

7.6 Mutated Genes and Their Products

Mutations are permanent changes in the nucleotide sequence of DNA, which may alter a gene product A mutation that changes a genes product may have harmful effects
Example: Mutations that affect the proteins in hemoglobin reduce bloods ability to carry oxygen

Types of Mutations
Deletion
Mutation in which one or more base pairs are lost

Insertion
Mutation in which one or more base pairs become inserted into DNA

Base-pair substitution
Type of mutation in which a single base-pair changes

Two Common Mutations in Hemoglobin

A Hemoglobin, an oxygen-transport protein in red blood cells. This protein consists of four globin chains: two alpha chains (blue) and two beta chains (green). Each globin chain folds up to form a pocket that cradles a type of cofactor called a heme (red). Oxygen binds to the iron atom at the center of each heme group.
Fig. 7-9a, p. 125

Sickle-Cell Anemia: A Base-Pair Substitution

valine histidine leucine threonine proline (val) (thr) (his) (leu) (pro) 1 Normal amino acid sequence at the start of the hemoglobin beta chain. valine histidine leucine threonine proline (thr) (val) (pro) (his) (leu) 2 One amino acid substitution results in the abnormal beta chain of sickle hemoglobin (HbS). The sixth amino acid in such chains is valine, not glutamic acid. 3 Glutamic acid carries an overall negative charge; valine carries no charge. This difference causes the protein to behave differently. At low oxygen levels, HbS molecules stick together and form rod-shaped clumps that distort normally round red blood cells into sickle shapes. (A sickle is a farm tool with a crescent-shaped blade.)

glutamic glutamic acid acid (glu) (glu)

valine (val)

glutamic acid (glu)

sickled cell

normal cell

4 Tionne T-Boz Watkins of the music group TLC is a celebrity spokesperson for the Sickle Cell Disease Association of America. She was diagnosed with sickle-cell anemia as a child.
Fig. 7-10a, p. 126

Fig. 7-10b, p. 126

What Causes Mutations?

Most mutations result from unrepaired DNA polymerase errors during DNA replication Some result from transposable element activity, or from exposure to radiation or chemicals Transposable element
Small segment of DNA that can spontaneously move to a new location in a chromosome

Ionizing Radiation Damage

Ionizing radiation (x-rays) breaks chromosomes and produces free radicals

Nonionizing Radiation Damage

Nonionizing radiation (UV light) results in thymine dimers, which lead to skin cancer

Environmental Damage

Some natural and synthetic chemicals cause mutations in DNA Example: Cigarette smoke transfers small hydrocarbon groups to bases in DNA, causing mispairing during replication

Frame shift Deletion Insertion Duplication Translocation

Frameshift mutation

Duplication

Deletion

Inversion

Translocation

Symptoms of sickle cell anemia

7.7 Examples of Eukaryotic Gene Controls

All cells in your body carry the same DNA Some genes are transcribed by all cells, but most cells are specialized (differentiated) to use only certain genes Which genes are expressed at a given time depends on the type of cell and conditions

Cell Differentiation
Cells differentiate when they start expressing a unique subset of their genes controls over gene expression are the basis of differentiation Differentiation
The process by which cells become specialized Occurs as different cell lineages begin to express different subsets of their genes

Controlling Gene Expression

Controlling gene expression is critical for normal development and function of a eukaryotic body All steps between transcription and delivery of gene product are regulated Transcription factor
Protein that influences transcription by binding to DNA

Homeotic Genes
Homeotic gene
Type of master gene that controls formation of specific body parts during development

Master gene
Gene encoding a product that affects the expression of many other genes Controls an intricate task such as eye formation

Homeodomains

All homeotic genes encode transcription factors with a homeodomain a region of about 60 amino acids that can bind to a promoter or some other DNA sequence

Identifying Homeotic Genes and Their Functions

Researchers study the function of a homeotic gene by altering its expression by introducing a mutation or deleting it entirely
Examples: eyeless, dunce, tinman, groucho

Gene knockout
A gene that has been inactivated in an organism

Sex Chromosome Genes

In mammals, males have only one X chromosome females have two, but one is tightly condensed into a Barr body and inactive Dosage compensation
Theory that X chromosome inactivation equalizes gene expression between males and females

X Chromosome Inactivation
Female cells have Barr bodies, male cells do not

The Y Chromosome
The SRY gene, found on the Y chromosome, is the master gene for male sex determination
Triggers formation of testes Testosterone produced by testes controls formation of male secondary traits

Absence of SRY gene in females triggers development of ovaries, female characteristics

Development of Human Reproductive Organs

Structures that will give rise to external genitalia appear at seven weeks

SRY expressed

no SRY present

penis vaginal opening

birth approaching
Fig. 7-14, p. 129

Cancer: Gene Expression Out of Control

Many gene expression controls regulate cell growth and division mutations that disrupt normal controls can cause cancer Cancer
Disease that occurs when a malignant neoplasm physically and metabolically disrupts body tissues

Tumors

Tumor
Abnormally growing and dividing mass of cells

Metastasis
A process of cancer in which tumor cells lose membrane recognition proteins, break free, and establish themselves in other parts of the body

Cancer and Mutations

Cancer begins with a mutation in a gene whose product controls cell growth and division A mutation that causes cancer may be inherited or be caused by environmental agents Tumors are more likely to occur when mutations occur in tumor suppressor genes, such as BRCA1 and BRCA2

BRCA Genes and Cancer