5/14/2020 Molecular Genetics (Biology): An Overview

Cells Genetics Evolution Ecology

Molecular Genetics (Biology): An Overview

Updated August 22, 2019 By Sylvie Tremblay

Whether you're taking general biological sciences, cell biology or molecular biology
courses, genetics will be a major part of your study.

Genetics determines who we are, what we are and how we act at both the human level
and the cellular level.

The Basics of Genetics

When you're learning about molecular genetics, it's best to start with the basics. What
exactly is your genetic material, anyway?

The tl;dr is that DNA is deoxyribonucleic acid: a double helix-shaped molecule made up
of two complementary strands of DNA. DNA is one of the two major types of nucleic
acids that exist in nature (the other is RNA). Nucleic acids are made of subunits called
nucleotides. Each nucleotide is made of a 5 carbon ribose sugar, a nitrogenous base and a
phosphate molecule.

Four types nitrogenous bases make up the nucleotides of nucleic acids – adenine,
thymine, guanine and cytosine – that make up your genetic code. Your genetic material
undergoes DNA replication each time your cell divides, so that (virtually) every cell in
your body has a complete set of genes.

Organizing DNA and the Genetic Code

In eukaryotes, the DNA is packaged into large chromosomes. And for humans, most cells
contain two sets of 23 chromosomes, for 46 chromosomes, total. Two of those

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5/14/2020 Molecular Genetics (Biology): An Overview

chromosomes – the X and Y chromosome – are called sex chromosomes. They determine
your sex and also code for speci c traits, called sex-linked traits.

Cells
The genetic code is separated Genetics
into Evolution
two basic Ecology
categories. One category is exons, which are
the coding regions that make up genes. These get transcribed and translated to create
proteins, which allow your cells to function.

The other category of genetic code is introns, which are non-coding regions. Because
they're non-coding, they don't create proteins. However, introns play an important role
in your DNA function, because they in uence gene activity – in other words, how much
the gene is expressed.

RNA and Genetics

While your DNA might be the blueprint of life, RNA – also called ribonucleic acid – is just
as important to molecular genetics. Like DNA, RNA is made up of nucleic acids, though it
contains uracil instead of thymine. Unlike DNA, though, it's a single-stranded molecule,
and it doesn't have the same double-helix structure as your DNA.

There are several types of RNA in your cells, and each carry out distinct roles. Messenger
RNA, or mRNA, serves as a blueprint for protein production. Ribosomal RNA (rRNA) and
transport RNA (tRNA) also play a key role in protein synthesis. And other types of RNA,
like microRNA (miRNA) affect how active your genes are.

Gene Expression
Just as important as the content of your genes is how active (or inactive) they are – which
is why gene expression is important. Genes are expressed when they're transcribed and
translated into proteins.

The concept of gene expression traces back to the central dogma of molecular genetics:
that the ow of genetic information moves from DNA to RNA and, nally, to protein.

So how does it work? The rst step in the process is transcription. During transcription,
your cells use your DNA as a blueprint to create a complementary strand of messenger
RNA (mRNA). From there, the mRNA goes through a few chemical modi cations – like
removing the introns – so that it's ready to serve as a blueprint for protein synthesis.

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5/14/2020 Molecular Genetics (Biology): An Overview

The next step in the process is translation. During translation, your cells "read" the
mRNA template and use it as a guide to create a polypeptide – a strand of amino acids
that'll eventually become a functional protein. Translation relies on a triplet code, where
Cells Genetics Evolution Ecology
three nucleic acids in the mRNA strand correspond to one amino acid. By reading each
triplet code (also called a codon), your cells can be sure to add the right amino acid at the
right time to create a functional protein.

The Basics of Heredity

You already know genes are passed on from parents to their offspring and shared among
family members – but how exactly does it work?

Part of it comes down to genes and alleles. While all humans share the same set of genes
– so, for instance, everyone has genes that code for hair color or eye color – the content
of those genes is different, which is why some people have blue eyes and some people
have brown ones.

Different variations on the same genes are called alleles. Different alleles code for
slightly different proteins, which lead to different observable traits, which are called
phenotypes.

So how do different alleles lead to different observable traits? Some of it comes down to
whether an allele is dominant or recessive. Dominant alleles take center stage – if you
have even one dominant allele, you'll develop the phenotype associated with it.
Recessive alleles don't lead to a phenotype as easily – generally, you'll need two copies of
a recessive allele to see the associated phenotype.

So why are dominance and recessiveness important to understand? For one thing, they
help you predict the phenotype – the observable traits – you'll see in the next generation.
What's more, you can use probabilities to gure out both the genetic information and the
phenotype of the next generation of offspring, using a simple tool called a Punnet square.

As for who gured out the basics of dominant and recessive genes? You can thank Gregor
Mendel, a geneticist who carried out experiments in the mid-1800s. Observing how
traits were passed down from pea plants generation over generation, he worked out the
theory of dominant and recessive traits – and essentially created the science of genetics.

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5/14/2020 Molecular Genetics (Biology): An Overview

Genetic Mutations and Abnormalities

Most of the content of your genes is passed down from your parents, but you can also
Cells Genetics Evolution Ecology
develop genetic mutations throughout your life. Genetic mutations can impact your
overall health if they end up impacting translation and changing the amino acid sequence
of the resulting protein.

Some genetic mutations, called point mutations, might only affect a single amino acid.
Others can affect large regions of your DNA.

Some genetic abnormalities affect very large regions of DNA – a part of a chromosome
or even an entire chromosome. Chromosomal deletions lead to offspring missing an
entire chromosome, while other abnormalities can mean inheriting too many copies of
chromosomes.

Biotechnology and Genetic Engineering

So now you understand the basics of molecular genetics – now, how does it apply to
science today?

The truth is, scientists have more tools than ever to both study and manipulate DNA. And
if you're planning on taking science at a university, you'll get to try out some genetic
experiments yourself.

So how do all those genetic tools affect the real world? One of the biggest impacts of
advances is genetics is the impact on human health.

Thanks to the Human Genome Project, we now know the sequence of human DNA. And
follow-up studies have given scientists the opportunity to study genetic variation and
trace patterns of inheritance to understand human history.

Of course, genetic engineering and genetic modi cation is also important for the
agricultural industry – and unless you've been living under a rock, you've heard at least
some of the controversy surrounding genetically modi ed organisms, or GMOs.

Genetic modi cation can make crops easier to grow, and you'll nd GMOs in (almost) any
packaged food you eat.

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5/14/2020 Molecular Genetics (Biology): An Overview

As you may have guessed, the advances in molecular biology and genetic engineering
come with ethical concerns. Can corporations "own" a patent to a human gene? Are there
ethical issues to creating and using genetically modi ed crops, especially without
Cells Genetics Evolution Ecology
labelling them at the grocery store?

Could voluntary genetic testing, like ancestry tests, put your privacy at risk?

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5/14/2020 Molecular Genetics (Biology): An Overview

Cells Function,
Nucleic Acids: Structure, Genetics Evolution
Types Ecology
& Examples

Nucleic Acids: Structure, Function, Types &

Examples
Updated April 23, 2019 By Kevin Beck

Nucleic acids represent one of the four major categories of biomolecules, which are the
substances that make up cells. The others are proteins, carbohydrates and lipids (or fats).

Nucleic acids, which include DNA (deoxyribonucleic acid) and RNA (ribonucleic acid),
differ from the other three biomolecules in that they cannot be metabolized to supply
energy to the parent organism.

(That's why you don't see "nucleic acid" on nutrition information labels.)

Nucleic Acid Function and Basics

The function of DNA and RNA is to store genetic information. A complete copy of your
own DNA can be found in the nucleus of almost every cell in your body, making this
aggregation of DNA – called chromosomes in this context – rather like the hard drive of a
laptop computer.

In this scheme, a length of RNA of the sort called messenger RNA contains the coded
instructions for only one protein product (i.e., it contains a single gene) and is therefore
more like a "thumb drive" containing a single important le.

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5/14/2020 Molecular Genetics (Biology): An Overview

DNA and RNA are very closely related. The single substitution of a hydrogen atom (–H)
in DNA for a hydroxyl group (–OH) attached to the corresponding carbon atom in RNA
accounts for the entire chemical and structural difference between the two nucleic acids.
Cells Genetics Evolution Ecology
As you'll see, though, as so often happens in chemistry, what seems like a tiny difference
at the atomic level has obvious and profound practical consequences.

Structure of Nucleic Acids

Nucleic acids are made up of nucleotides, which are substances that themselves consist
of three distinct chemical groups: a pentose sugar, one to three phosphate groups and a
nitrogenous base.

The pentose sugar in RNA is ribose, while that in DNA is deoxyribose. Also, in nucleic
acids, nucleotides only have one phosphate group. One example of a well-known
nucleotide that boasts multiple phosphate groups is ATP, or adenosine triphosphate.
ADP (adenosine diphosphate) participates in many of the same processes that ATP does.

Single molecules of DNA can be extraordinarily long and can extend for the length of an
entire chromosome. RNA molecules are far more limited in size than DNA molecules but
still qualify as macromolecules.

Specific Differences Between DNA and RNA

Ribose (the sugar of RNA) has a ve-atom ring that includes four of the ve carbons in
the sugar. Three of the others are occupied by hydroxyl (–OH) groups, one by a hydrogen
atom and one by a hydroxymethyl (–CH2OH) group.

The only difference in deoxyribose (the sugar of DNA) is that one of the three hydroxyl
groups (the one at the 2-carbon position) is gone and is replaced by a hydrogen atom.

Also, while both DNA and RNA have nucleotides with one of four possible nitrogenous
bases included, these vary slightly between the two nucleic acids. DNA features adenine
(A), cytosine (C), guanine (G) and thymine. whereas RNA has A, C and G but uracil (U) in
place of thymine.

Types of Nucleic Acids

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5/14/2020 Molecular Genetics (Biology): An Overview

Most of the functional differences between DNA and RNA relate to their markedly
different roles in cells. DNA is where the genetic code for living – not just reproduction
but day to day life activities – is stored.
Cells Genetics Evolution Ecology
RNA, or at least mRNA, is responsible for collecting the same information and bringing it
to the ribosomes outside the nucleus where proteins are built that allow the carrying out
of those aforementioned metabolic activities.

The base sequence of a nucleic acid is where its speci c messages are carried, and the
nitrogenous bases can thus be said to be ultimately responsible for differences in animals
of the same species – that is, different manifestations of the same trait (e.g., eye color,
body hair pattern).

Base Pairing in Nucleic Acids

Two of the bases in nucleic acids (A and G) are purines, while two (C and T in DNA; C and
U in RNA) are pyrimidines. Purine molecules contain two fused rings, while pyrimidines
have only one and are smaller in general. As you'll soon learn, the DNA molecule is
double-stranded because of bonding between the nucleotides in adjacent strands.

A purine base can only bond with a pyrimidine base, because two purines would take up
too much space between strands and two pyrimidines too little, with a purine-pyrimidine
combination being just the right size.

But things are actually more tightly controlled than this: In nucleic acids, A bonds only to
T (or U in RNA), whereas C bonds only to G.

Structure of DNA
The complete description of the DNA molecule as a double-stranded helix in 1953 by
James Watson and Francis Crick eventually earned the duo a Nobel Prize, although the
X-ray diffraction work of Rosalind Franklin in the years leading to this achievement was
instrumental in the pair's success and is often understated in history books.

In nature, DNA exists as a helix because this is the most energetically favorable form for
the particular set of molecules it contains to take.

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5/14/2020 Molecular Genetics (Biology): An Overview

The side chains, bases and other portions of the DNA molecule experience the right
blend of electrochemical attractions and electrochemical repulsions so that the molecule
is most "comfortable" in the shape of two spirals, slightly offset from each other, like
Cells Genetics Evolution Ecology
interwoven spiral-style staircases.

Bonding Between Nucleotide Components

DNA strands consist of alternating phosphate groups and sugar residues, with the
nitrogenous bases attached to a different part of the sugar portion. A DNA or RNA
strand elongates thanks to hydrogen bonds formed between the phosphate group of one
nucleotide and the sugar residue of the next.

Speci cally, the phosphate at the number-5 carbon (often written 5') of the incoming
nucleotide is attached in place of the hydroxyl group on the number-3 carbon (or 3') of
the growing polynucleotide (small nucleic acid). This is known as a phosphodiester
linkage.

Meanwhile, all of the nucleotides with A bases are lined up with nucleotides with T bases
in DNA and nucleotides with U bases in RNA; C pairs uniquely with G in both.

The two strands of a DNA molecule are said to be complementary to each other, because
the base sequence of one can be determined using the base sequence of the other thanks
to the simple base-pairing scheme nucleic acid molecules observe.

The Structure of RNA

RNA, as noted, is extraordinarily similar to DNA on a chemical level, with only one
nitrogenous base among four being different and a single "extra" oxygen atom in the
sugar of RNA. Obviously, these seemingly trivial differences are suf cient to ensure
substantially different behavior between the biomolecules.

Notably, RNA is single-stranded. That is, you will not see the term "complementary
strand" used in the context of this nucleic acid. Different portions of the same RNA
strand, however, can interact with each other, which means that the shape of RNA
actually varies more than the shape of DNA (invariably a double helix). Accordingly,
there are numerous different types of RNA.

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5/14/2020 Molecular Genetics (Biology): An Overview

Types of RNA
• mRNA, or messenger RNA, uses complementary base-pairing to carry the
message DNA gives itCells Genetics
during Evolution
transcription Ecology
to the ribosomes, where that
message is translated into protein synthesis. Transcription is described in
detail below.
• rRNA, or ribosomal RNA, makes up a sizable portion of the mass of
ribosomes, the structures within cells responsible for protein synthesis. The
remainder of the mass of ribosomes consists of proteins.
• tRNA, or transfer RNA, plays a critical role in translation by shuttling amino
acids destined for the growing polypeptide chain to the spot where proteins
are assembled. There are 20 amino acids in nature, each with its own tRNA.

A Representative Length of Nucleic Acid

Imagine being presented with a strand of nucleic acid with the base sequence
AAATCGGCATTA. Based on this information alone, you should be able to conclude two
things quickly.

One, that this is DNA, not RNA, as revealed by the presence of thymine (T). The second
thing you can tell is that the complementary strand of this DNA molecule has the base
sequence TTTAGCCGTAAT.

You can also be sure of the mRNA strand that would result from this strand of DNA
undergoing RNA transcription. It would have the same sequence of bases as the
complementary DNA strand, with any instances of thymine (T) being replaced by uracil
(U).

This is because DNA replication and RNA transcription operate similarly in that the
strand made from the template strand is not a duplicate of that strand, but its
complement or the equivalent in RNA.

DNA Replication
In order for a DNA molecule to make a copy of itself, the two strands of the double helix
must separate in the vicinity of copying. This is because each strand is copied (replicated)
separately and because the enzymes and other molecules that take part in DNA

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5/14/2020 Molecular Genetics (Biology): An Overview

replication need room to interact, which a double helix does not provide. Thus the two
strands become physically separated, and the DNA is said to be denatured.

Cells
Each separated strand of DNA Genetics
makes a newEvolution Ecology
strand complementary to itself, and remains
bound to it. So, in a sense, nothing is different in each new double-stranded molecule
from its parent. Chemically, they have the same molecular composition. But one of the
strands in each double helix is brand-new while the other is left over from replication
itself.

When DNA replication occurs simultaneously along separated complementary strands,

the synthesis of the new strands actually occur in opposite directions. On one side, the
new strand simply grows in the direction of the DNA being "unzipped" as it is denatured.

On the other side, however, small fragments of new DNA are synthesized away from the
direction of strand separation. These are called Okazaki fragments, and are joined
together by enzymes after reaching a certain length. These two new DNA strands are
antiparallel to each other.

RNA Transcription
RNA transcription is similar to DNA replication in that the unpairing of DNA strands is
required for it to start. mRNA is made along the DNA template by the sequential
addition of RNA nucleotides by the enzyme RNA polymerase.

This initial transcript of RNA created from the DNA creates what we call pre-mRNA. This
pre-mRNA strand contains both introns and exons. Introns and exons are sections within
the DNA/RNA that either do or do not code for parts of the gene product.

Introns are non-coding sections (also called "interfering sections") while exons are
coding sections (also called "expressed sections").

Before this strand of mRNA leaves the nucleus to be translated into a protein, enzymes
within the nucleus excise, aka cut out, the introns since they do not code for anything in
that particular gene. Enzymes then connect the remaining intron sequences to give you
the nal mRNA strand.

One mRNA strand usually includes exactly the base sequence necessary to assemble one
unique protein downstream in the translation process, which means that one mRNA
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5/14/2020 Molecular Genetics (Biology): An Overview

molecule typically carries the information for one gene. A gene is a DNA sequence that
codes for a particular protein product.

Cellsthe
Once transcription is complete, Genetics
mRNA Evolution Ecologyout of the nucleus through
strand is exported
pores in the nuclear envelope. (RNA molecules are too large to simply diffuse through
the nuclear membrane, as can water and other small molecules). It then "docks" with
ribosomes in the cytoplasm or within certain organelles, and protein synthesis is
initiated.

How Are Nucleic Acids Metabolized?

Nucleic acids cannot be metabolized for fuel, but they can be created from very small
molecules or broken down from their complete form into very small parts. Nucleotides
are synthesized through anabolic reactions, often from nucleosides, which are
nucleotides minus any phosphate groups (that is, a nucleoside is a ribose sugar plus a
nitrogenous base).

DNA and RNA can also be degraded: from nucleotides to nucleosides, then to
nitrogenous bases and eventually to uric acid.

Breakdown of nucleic acids is important for overall health. For example, the inability to
break down purines is linked to gout, a painful disease affecting some of the joints thanks
to urate crystal deposits in those locations.

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