Obiora, E. H.

BIO 323 (GENETICS)

Chromosomes, Genes and Inheritance
The Chromosome Theory of Inheritance.
The chromosomal theory of inheritance was formulated by Boveri and Sutton in the
early 1900s. It is the fundamental theory of genetics. It states simply that chromosomes, which
are seen in all dividing cells and pass from one generation to the next, are the basis for all
genetic inheritance. It also states that chromosomes are linear structures with genes located at
specific sites called loci along them.
What are Chromosomes?
Genes code for every physical and biochemical trait or characteristic a living organism
possesses. Genes are segments of DNA that code for heritable traits. DNA is very long and
located in the nucleus of every cell. If we stretch out all the DNA in one cell, it is estimated
that it will be over 6 feet long. The cell itself is very small, so to fit 6 feet of DNA into the
nucleus of one cell, we need to wrap and coil it. Once the DNA is wrapped, the structure is
called a chromosome.
Importantly, humans don't wrap all their DNA into one giant chromosome. Instead, we
segment our DNA into multiple smaller chromosomes. Typically, humans have 46
chromosomes in all somatic cells (cells in the body other than sperm and egg cells) of the body.
Each human possesses two copies of each chromosome, one from our mother and one from our
father, except for male sex chromosomes (in which a male has one X and one Y chromosome).
These two copies of chromosomes inherited from each parent are called homologous
chromosomes. Therefore, it can be said that a human carries 23 pairs of homologous
chromosomes and two copies of every gene.
How do Chromosomes Determine Traits?
While homologous chromosomes carry the same gene, each chromosome may have
alternative forms of that gene called alleles. For example, one allele of the dimples gene may
code for cheek dimples, while another allele may code for no cheek dimples. Whether or not a
child has dimples will depend on the presence of the dominant dimple allele. So it goes for any
other inheritable trait.
Principles of the Chromosome Theory of Inheritance
The chromosome theory of inheritance was formed years after Mendel’s work on the
peas. The theory however explains and confirms Mendel’s laws of independent assortment and
segregation of genes. The Chromosome Theory of Inheritance follows three core principles:
i. Fertilization

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ii. Mendel’s Law of Segregation

iii. Mendel’s Law of Independent Assortment
Fertilisation

Chromosomes from each parent combine during a process known as fertilisation.

Sperm contains 23 chromosomes from the father, and the egg contains 23 chromosomes from
the mother. During fertilisation, the chromosomes give rise to the 46 chromosomes in humans.
Therefore, just like Mendel's genes were made up of two alleles, chromosomes come in pairs
known as homologous chromosomes, with each allele coming from one parent.

Mendel’s Law of Segregation

Mendel’s Law of Segregation states that only one of the two alleles present in an
organism is passed onto the gamete randomly. Mendel saw that when he crossed parent peas
that were both Pp, he produced offspring with a 3:1 ratio of purple to white flowers. This meant
that each parent pea only passed on only one allele, either P or p.

Similarly, most human cells have 46 chromosomes, but a gamete (sperm or egg cell)
only has 23 chromosomes following meiosis. Since each cell has pairs of each chromosome,
the Law of Segregation states that only one of two chromosomes in the pair is passed onto the
gamete.

Mendel’s Law of Independent Assortment

The Law of Independent Assortment states that the alleles for different genes are sorted
into gametes independently from each other. For example, having an allele for dimples does
not influence the sorting of alleles for eye colour. Mendel's dihybrid cross experiment showed
that when he crossed parent peas with an PpTt genotype, the offspring had PT, Pt, pT, and pt
alleles in equal ratios suggesting that the pea flower colour did not affect the pea height.
Similarly, when genes are located on different chromosomes, each chromosome pair will be
selected independently of other chromosome pairs. For example, the segregation of
chromosome 1 during meiosis will not influence the segregation of chromosome 2.

Sex chromosomes, autosomes and sex determination

A sex chromosome is a type of chromosome involved in sex determination. Humans
and most other mammals have two sex chromosomes, X and Y that in combination determine
the sex of an individual. Females have two X chromosomes in their cells, while males have
one X and one Y. Other chromosomes that are not the sex chromosomes are known as the

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autosomes.
Sex-linked genes/disorders
As we discussed, genes are found on chromosomes, including sex chromosomes,
responsible for determining our biological sex. Biological females have two X-chromosomes
(XX) in humans, while biological males have one X and one Y chromosome (XY). Genes
found on the Y chromosome will be inherited only in male offspring, while genes found on the
X-chromosome will be inherited by both male and female offspring. Ultimately, if genes are
located on the sex chromosome, it changes how genes are inherited between males and females.
In humans, the term often refers to traits or disorders influenced by genes on the X
chromosome, as it contains many more genes than the smaller Y chromosome. Males, who
have only a single copy of the X chromosome, are more likely to be affected by a sex-linked
disorder such as colour blindness and haemophilia, than females, who have two copies. In
females, the presence of a second, non-mutated X copy may cause different, milder, or no
symptoms of a sex-linked disorder.
DNA, RNA and Gene expression
As we know that genes code for characteristics or functions found in an organism, it
then becomes important to understand how these genes are expressed in the form of observable
traits or phenotype. Gene expression occurs in a two-step process-Transcription and
Translation. Transcription involves the copying of information or instruction from DNA to
RNA; while translation involves the formation of amino acids (proteins), which carry out the
instruction in the form of observable phenotypes. Let us however first explain what DNA and
RNA are before we delve into the gene expression process properly.
Deoxyribonucleic acid (DNA)
It is a nucleic acid as the name suggests and is also the hereditary material in living
organisms. It is made up of two nucleotide chains that coil around each other to form a double
helix. It has the appearance of a spiral ladder whose side rails are made of the phosphate group
and a pentose sugar (deoxyribose) and the rungs made of either one of four nitrogenous bases:
Adenine (A), Guanine (G), Cytosine (C) and Thymine (T). Adenine pairs with Thymine
(A T) while Guanine pairs with Cytosine (G C).

Ribonucleic acid (RNA)

This is also a nucleic acid and is the intermediate in gene expression. Unlike the DNA,
RNA is made of only a single strand of nucleotides with ribose as its sugar instead of

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deoxyribose. One of its nitrogen bases is also different with Uracil (U) replacing Thymine (T).
So Adenine now pairs with Uracil.

Now that you are acquainted with these terms, let us learn about the gene expression
process.
Gene expression process

Transcription Translation
DNA RNA Protein
Transcription
Transcription is the first step in gene expression. The sequence of DNA to be expressed
is copied to RNA (mainly messenger RNA) by the RNA polymerase enzyme. This enzyme
attaches to the target sequence and adds nucleotides complementary to that sequence, forming
a strand of RNA. In this form, the RNA is referred to as the messenger RNA (mRNA) since it
carries information or instruction from the DNA. This mRNA is complementary to the
sequence of DNA to be expressed. Transcription occurs in the nucleus of eukaryotes and in
the nucleoid of prokaryotes.

Translation

After transcription and formation of the mRNA, the mRNA is exported out of the
nucleus to the ribosome through the help of the transfer RNA (tRNA). The tRNA takes three
nucleotide sequences (codon) from the mRNA at a time for translation. Each codon codes for
an amino acid (glycine, leucine, tyrosine etc). The codons and the different amino acids they
code are contained in the genetic code. The genetic code is a table that lists all the codons and
the different amino acids they code for. Amino acids are building blocks for proteins and the
type of proteins formed after translation determines the information or phenotype that will be
expressed. Protein formation signals the end of gene expression. It is known that proteins are
the most abundant molecules in the body of an organism as it carries out many different
functions. Before the discovery of the chromosomes and genes, the reasoning was that proteins
carried genetic information; that since proteins performed all the functions of the cell, the
proteins would be passed on to perform the functions of the cell in the next generation. This is
wrong as proteins are formed or only act on the instructions or information passed from DNA
to mRNA.