Ch2: Basic Cell Biology:

Structure and Function of

Genes and Chromosomes
Basic Cell Biology: Structure and
Function of Genes and
Chromosomes
• All genetic diseases involve defects at the level of the cell. For this
reason, one must understand basic cell biology to understand genetic
disease. Errors can occur in the replication of genetic material or in
the translation of genes into proteins. Such errors commonly produce
single-gene disorders. In addition, errors that occur during cell
division can lead to disorders involving entire chromosomes. To
provide the basis for understanding these errors and their
consequences, this chapter focuses on the processes through which
genes are replicated and translated into proteins, as well as the
process of cell division
• Genes are transmitted from parent to offspring and are considered
the basic unit of inheritance. It is through the transmission of genes
that physical traits such as eye color are inherited in families. Diseases
can also be transmitted through genetic inheritance. Physically, genes
are composed of deoxyribonucleic acid (DNA). DNA provides the
genetic blueprint for all proteins in the body. Thus, genes ultimately
influence all aspects of body structure and function. Humans are
estimated to have 20,000 to 25,000 genes (sequences of DNA that
code for ribonucleic acid [RNA] or proteins). An error (or mutation) in
one of these genes often leads to a recognizable genetic disease.
Genes, the basic unit of inheritance, are
contained in chromosomes and consist of DNA.
• Each human somatic cell (cells other than the gametes, or sperm and
egg cells) contains 23 pairs of different chromosomes, for a total of
46. One member of each pair is derived from the individual’s father,
and the other member is derived from the mother. One of the
chromosome pairs consists of the sex chromosomes. In normal males,
the sex chromosomes are a Y chromosome inherited from the father
and an X chromosome inherited from the mother.
Cont..
• Two X chromosomes are found in normal females, one inherited from
each parent. The other 22 pairs of chromosomes are autosomes. The
members of each pair of autosomes are said to be homologs, or
homologous, because their DNA is very similar. The X and Y
chromosomes are not homologs of each other. Somatic cells, having
two of each chromosome, are diploid cells. Human gametes have the
haploid number of chromosomes, 23. The diploid number of
chromosomes is maintained in successive generations of somatic cells
by the process of mitosis, whereas the haploid number is obtained
through the process of meiosis. Both of these processes are discussed
in detail later in this chapter.
DNA, RNA, AND PROTEINS:
HEREDITY AT THE MOLECULAR
LEVEL
• DNA Composition and Structure of DNA The DNA molecule has three
basic components: the pentose sugar, deoxyribose; a phosphate
group; and four types of nitrogenous bases (so named because they
can combine with hydrogen ions in acidic solutions). Two of the bases,
cytosine and thymine, are single carbon–nitrogen rings called
pyrimidines.
• The other two bases, adenine and guanine, are double carbon–
nitrogen rings called purines. The four bases are commonly
represented by their first letters: C, T, A, and G.
• One of the contributions of Watson and Crick in the mid20th century
was to demonstrate how these three components are physically
assembled to form DNA. They proposed the now-famous double helix
model, in which DNA can be envisioned as a twisted ladder with
chemical bonds as its rungs (Fig. 2-3). The two sides of the ladder are
composed of the sugar and phosphate components, held together by
strong phosphodiester bonds. Projecting from each side of the ladder,
at regular intervals, are the nitrogenous bases. The base projecting
from one side is bound to the base projecting from the other side by
relatively weak hydrogen bonds. The
THE STRUCTURE OF GENES AND
THE GENOME
• Some aspects of gene structure, such as the existence of introns and
exons, have already been touched on. Alterations of different parts of
genes can have quite distinct consequences in terms of genetic
disease. It is therefore necessary to describe more fully the details of
gene structure.
introns and Exons
• The intron–exon structure of genes, discovered in 1977, is one of the attributes
that distinguishes eukaryotes from prokaryotes. Introns form the major portion of
most eukaryotic genes. As noted previously, introns are spliced out of the mRNA
before it leaves the nucleus, and this splicing must be under very precise control.
Enzymes that carry out splicing are directed to the appropriate locations by DNA
sequences known as consensus sequences (so named because they are common
in all eukaryotic organisms), which are situated adjacent to each exon. Because
most eukaryotic genes are composed primarily of introns, it is natural to ask
whether introns might have some function. One interesting hypothesis is that
introns, by lengthening genes, encourage the shuffling of genes when
homologous chromosomes exchange material during meiosis (see later
discussion). It has also been suggested that introns evolved to modify the amount
of time required for DNA replication and transcription.
 DNA and RNA
• DNA (deoxyribonucleic acid) and RNA (ribonucleic acid) are two types of
nucleic acids found in cells. They share many structural similarities but also
have several key differences:
1. Sugar Component:
• DNA contains a sugar called deoxyribose.
• RNA contains a sugar called ribose, which has one more hydroxyl group than
deoxyribose.
2. Nitrogenous Bases:
• DNA has four types of nitrogenous bases: adenine (A), thymine (T), cytosine (C), and
guanine (G).
• RNA also has four types of bases, but instead of thymine, RNA has uracil (U).
• Structure:
• DNA is typically double-stranded, forming a double helix.
• RNA is usually single-stranded and can fold into complex three-dimensional shapes.
• Stability:
• DNA is more stable under cellular conditions and can last for a very long time, which is crucial
for its role in genetic information storage.
• RNA is less stable because the hydroxyl group on ribose makes it more prone to hydrolysis.
• Function:
• DNA stores the genetic blueprint for the organism. It contains the instructions needed for the
function and reproduction of the cell.
• RNA is involved in several roles:
• mRNA (messenger RNA) serves as the template for protein synthesis.
• tRNA (transfer RNA) and rRNA (ribosomal RNA) are critical components of the
protein-synthesizing machinery, the ribosome.
• RNA is also involved in gene regulation and catalysis in the form of small RNAs (like
microRNAs) and ribozymes
CONT..
• Location:
• In eukaryotes, DNA is primarily found in the cell nucleus, while RNA is produced in the
nucleus but functions mainly in the cytoplasm.
• In prokaryotes, which lack a nucleus, DNA and RNA share the same cellular space.
• Replication:
• DNA can replicate itself, a process necessary for cell division.
• RNA is synthesized from DNA but does not replicate itself.
• In summary, DNA is the permanent archive of genetic information, while RNA
acts as the messenger and workbench that carries out the instructions encoded
in DNA. RNA's roles are more versatile, ranging from acting as a template for
proteins to regulating gene expression and catalyzing biochemical reactions.