Lecture no.

10
Gene and genome and Mendelian Genetics

The term gene was introduced by Danish botanist, plant physiologist, and
geneticist Wilhelm Johannsen in 1909. It is inspired by the ancient Greek: γόνος,
gonos, that means offspring and procreation. In 1866, Gregor Mendel, a Moravian
scientist and Augustinian friar, laid the foundations of modern genetics with his
landmark studies of heredity in the garden pea (Pisum sativum L.). The basic unit
of heredity passed from parent to child. Genes are made up of sequences of DNA
and are arranged, one after another, at specific locations on chromosomes in the
nucleus of cells.

Background

Gregor Mendel
The existence of discrete inheritable units was first suggested by Gregor Mendel (1822–1884).
From 1857 to 1864, in Brno, Austrian Empire (today's Czech Republic), he studied inheritance
patterns in 8000 common edible pea plants, tracking distinct traits from parent to offspring. He
described these mathematically as 2n combinations where n is the number of differing
characteristics in the original peas. Although he did not use the term gene, he explained his
results in terms of discrete inherited units that give rise to observable physical characteristics.

Wilhelm Johannsen

This description prefigured Wilhelm Johannsen's distinction between genotype (the genetic
material of an organism) and phenotype (the observable traits of that organism). Mendel was also
the first to demonstrate independent assortment, the distinction
between dominant and recessive traits, the distinction between a heterozygote and homozygote,
and the phenomenon of discontinuous inheritance.

Charles Darwin
Charles Darwin developed a theory of inheritance he termed pangenesis, from Greek pan ("all,
whole") and genesis ("birth") / genos ("origin"). [33][34] Darwin used the term gemmule to describe
hypothetical particles that would mix during reproduction.

Mendel's work went largely unnoticed after its first publication in 1866, but was
rediscovered in the late 19th century by Hugo de Vries, Carl Correns, and Erich von
Tschermak, who (claimed to have) reached similar conclusions in their own research.[35]

Specifically, in 1889, Hugo de Vries published his book Intracellular Pangenesis,[36] in which he
postulated that different characters have individual hereditary carriers and that inheritance of
specific traits in organisms comes in particles. De Vries called these units "pangenes"
(Pangens in German), after Darwin's 1868 pangenesis theory. Twenty years later, in
1909, Wilhelm Johannsen introduced the term "gene" and, in 1906, William Bateson, that of
"genetics" while Eduard Strasburger, among others, still used the term "pangene" for the
fundamental physical and functional unit of heredity.

Discovery of DNA
Advances in understanding genes and inheritance continued throughout the 20th
century. Deoxyribonucleic acid (DNA) was shown to be the molecular repository of genetic
information by experiments in the 1940s to 1950s. The structure of DNA was studied
by Rosalind Franklin and Maurice Wilkins using X-ray crystallography, which led James D.
Watson and Francis Crick to publish a model of the double-stranded DNA molecule whose
paired nucleotide bases indicated a compelling hypothesis for the mechanism of genetic
replication.

In the early 1950s the prevailing view was that the genes in a chromosome acted like discrete
entities arranged like beads on a string. The experiments of Benzer using mutants defective in
the rII region of bacteriophage T4 (1955–1959) showed that individual genes have a simple
linear structure and are likely to be equivalent to a linear section of DNA. Collectively, this body
of research established the central dogma of molecular biology, which states that proteins are
translated from RNA, which is transcribed from DNA. This dogma has since been shown to have
exceptions, such as reverse transcription in retroviruses. The modern study of genetics at the
level of DNA is known as molecular genetics.
Chromosomes
The total complement of genes in an organism or cell is known as its genome, which may be
stored on one or more chromosomes.

A chromosome consists of a single, very long DNA helix on which thousands of genes are
encoded. The region of the chromosome at which a particular gene is located is called its locus.
Each locus contains one allele of a gene; however, members of a population may have different
alleles at the locus, each with a slightly different gene sequence.

The majority of eukaryotic genes are stored on a set of large, linear chromosomes. The
chromosomes are packed within the nucleus in complex with storage proteins called histones to
form a unit called a nucleosome. DNA packaged and condensed in this way is called chromatin.
The manner in which DNA is stored on the histones, as well as chemical modifications of the
histone itself, regulate whether a particular region of DNA is accessible for gene expression. In
addition to genes, eukaryotic chromosomes contain sequences involved in ensuring that the DNA
is copied without degradation of end regions and sorted into daughter cells during cell
division: replication origins, telomeres, and the centromere. Replication origins are the sequence
regions where DNA replication is initiated to make two copies of the chromosome. Telomeres
are long stretching of repetitive sequences that cap the ends of the linear chromosomes and
prevent degradation of coding and regulatory regions during DNA replication. The length of the
telomeres decreases each time the genome is replicated and has been implicated in
the aging process. The centromere is required for binding spindle fibres to separate sister
chromatids into daughter cells during cell division.

What is the difference between genes and genome?

Genes are the fundamental units of heredity, and the genome is the organism's ensemble of
genes. The genotype is the individual organism's unique set of all the genes.

Is genome RNA or DNA?

Most genomes, including the human genome and those of all other cellular life forms,
are made of DNA (deoxyribonucleic acid) but a few viruses have RNA (ribonucleic acid)
genomes. DNA and RNA are polymeric molecules made up of chains of monomeric
subunits called nucleotides.
What is called an allele?
"Allele" is the word that we use to describe the alternative form or versions of a gene.
People inherit one allele for each autosomal gene from each parent, and we tend to
lump the alleles into categories. Typically, we call them either normal or wild-type
alleles, or abnormal, or mutant alleles

What is an example of a genome?

It is very difficult to come up with a precise definition of "genome." It usually refers to the
DNA (or sometimes RNA) molecules that carry the genetic information in an organism
but sometimes it is difficult to decide which molecules to include in the definition; for
example, bacteria usually have one or two large DNA