Introduction to Genetics & Inheritance Introduction to Molecular Biology.
In
genetics, a feature of a living thing is called a "trait". Some traits
are part of an organism's physical appearance; such as a person's eye-color,
height or weight. Other sorts of traits are not easily seen and include blood
types or resistance to diseases. The way our genes and environment interact to
produce a trait can be complicated. For example, the chances of somebody dying
of cancer or heart disease seems to depend on both their genes and their
lifestyle.
Some
traits are inherited through our genes, so tall and thin people tend to have
tall and thin children; such traits which result due to inheritance alone are
called genotypes. Other traits come from interactions between our genes and the
environment, so a child might inherit the tendency to be tall, but if they are
poorly nourished, they will still be short; such traits which are manifested due
to the combined action of inherited genes and environmental circumstances are
called as phenotypes.
Genes
are made from a long molecule called DNA, which is copied and inherited across
generations. DNA is made of simple units that line up in a particular order
within this large molecule. The order of these units carries genetic
information, similar to how the order of letters on a page carries information.
The language used by DNA is called the genetic code, which lets organisms read
the information in the genes. This information is the instructions for
constructing and operating a living organism.
The
information within a particular gene is not always exactly the same between one
organism and another, so different copies of a gene do not always give exactly
the same instructions. Each unique form of a single gene is called an allele. As
an example, one allele for the gene for hair color could instruct the body to
produce a lot of pigment, producing black hair, while a different allele of the
same gene might give garbled instructions that fail to produce any pigment,
giving white hair. Mutations are random changes in genes, and can create new
alleles. Mutations can also produce new traits, such as when mutations to an
allele for black hair produce a new allele for white hair. This appearance of
new traits is important in evolution.
Inheritance
in biology
Genes
are inherited as units, with two parents dividing out copies of their genes to
their offspring. You can think of this process like mixing two hands of cards,
shuffling them, and then dealing them out again. Humans have two copies of each
of their genes and when people reproduce they make copies of their genes and put
them into eggs or sperm, but only put in one copy of each type of gene. When an
egg joins with a sperm, this gives a child a complete set of genes. This child
will have the same number of genes as its parents, but for any gene one of their
two copies will come from their father, and one from their mother.
The
effects of this mixing depends on the types (the alleles) of the gene you are
interested in. If the father has two copies for an allele for red hair, and the
mother has two copies for brown hair, all their children will get the two
alleles that give different instructions, one for red hair and one for brown.
The hair color of these children depends on how these alleles work together. If
one allele overrides the instructions from another, it is called the dominant
allele, and the allele that is overridden is called the recessive allele.
In the case of a daughter with alleles for both red and brown hair, brown is
dominant and she ends up with brown hair.
Although
the red color allele is still there in this brown-haired girl, it doesn't show.
This is a difference between what you see on the surface (the traits of an
organism, called its phenotype) and the genes within the organism (its
genotype). In this example you can call the allele for brown "B" and
the allele for red "b". (It is normal to write dominant alleles with
capital letters and recessive ones with lower-case letters.) The brown hair
daughter has the "brown hair phenotype" but her genotype is Bb, with
one copy of the B allele, and one of the b allele.
Now
imagine that this woman grows up and has children with a brown hair man who also
has a Bb genotype. Her eggs will be a mixture of two types, one sort containing
the B allele, and one sort the b allele. Similarly, her partner will produce a
mix of two types of sperm containing one or the other of these two alleles. When
the transmitted genes are joined up in their offspring, these children have a
chance of getting either brown or red hair, since they could get a genotype of
BB = brown hair, Bb = brown hair or bb = red hair. In this generation, there is
therefore a chance of the recessive allele showing itself in the phenotype of
the children - some of them may have red hair like their grandfather.
Many
traits are inherited in a more complicated way than the example above. This can
happen when there are several genes involved, each contributing a small part to
the end result. Tall people tend to have tall children because their children
get a package of many alleles that each contribute a bit to how much they grow.
However, there are not clear groups of "short people" and "tall
people", like there are groups of people with brown or red hair. This is
because of the large number of genes involved; this makes the trait very
variable and people are of many different heights. Despite a common
misconception, the green/blue eye traits are also inherited in this complex
inheritance model. Inheritance can also be complicated when the trait depends on
the interaction between genetics and the environment. This is quite common, for
example, if a child does not eat enough nutritious food this will not change
traits like eye color, but it could stunt their growth.
Inherited
diseases
Some
diseases are hereditary and run in families; others, such as infectious
diseases, are caused by the environment. Other diseases come from a combination
of genes and the environment. Genetic disorders are diseases that are caused by
a single allele of a gene and are inherited in families. These include
Huntington's disease, Cystic fibrosis or Duchenne muscular dystrophy. Cystic
fibrosis, for example, is caused by mutations in a single gene called CFTR
and is inherited as a recessive trait[7]
Other
diseases are influenced by genetics, but the genes a person gets from their
parents only change their risk of getting a disease. Most of these diseases are
inherited in a complex way, with either multiple genes involved, or coming from
both genes and the environment. As an example, the risk of breast cancer is 50
times higher in the families most at risk, compared to the families least at
risk. This variation is probably due to a large number of alleles, each changing
the risk a little bit. Several of the genes have been identified, such as BRCA1
and BRCA2, but not all of them. However, although some of the risk is
genetic, the risk of this cancer is also increased by being overweight, drinking
a lot of alcohol and not exercising.
A woman's risk of breast cancer therefore comes from a large number of
alleles interacting with her environment, so it is very hard to predict.
While molecular biology was established in the
1930s, the term was first coined by Warren Weaver in 1938. Warren was the
director of Natural Sciences for the Rockefeller Foundation at the time and
believed that biology was about to undergo a period of significant change given
recent advances in fields such as X-ray crystallography. He therefore channeled
significant amounts of (Rockefeller Institute) money into biological fields
Molecular biology is the branch of biology that deals with the molecular basis of biological activity. This field overlaps with other areas of biology and chemistry, particularly genetics and biochemistry. Molecular biology chiefly concerns itself with understanding the interactions between the various systems of a cell, including the interactions between the different types of DNA, RNA and protein biosynthesis as well as learning how these interactions are regulated. Molecular biology is concerned particularly with the forms of biological molecules and [...] is predominantly three-dimensional and structural—which does not mean, however, that it is merely a refinement of morphology. It must at the same time inquire into genesis and function.
Relationship
to other biological sciences
Researchers in molecular biology use specific techniques
native to molecular biology (see Techniques
section later in article), but increasingly combine these with techniques and
ideas from genetics and biochemistry. There is not a defined line between these
disciplines. The figure above is a schematic that depicts one possible view of
the relationship between the fields:
| Biochemistry
is the study of the chemical substances and vital processes occurring in
living organisms. Biochemists focus heavily on the role, function, and
structure of biomolecules. The study of the chemistry behind biological
processes and the synthesis of biologically active molecules are examples of
biochemistry. | |
| Genetics
is the study of the effect of genetic differences on organisms. Often this
can be inferred by the absence of a normal component (e.g. one gene). The
study of "mutants" – organisms which lack one or more functional
components with respect to the so-called "wild type" or normal
phenotype. Genetic interactions (epistasis) can often confound simple
interpretations of such "knock-out" studies. | |
| Molecular biology
is the study of molecular underpinnings of the processes of replication,
transcription, translation, and cell function. The central dogma of
molecular biology where genetic material is transcribed into RNA and then
translated into protein, despite being an oversimplified picture of
molecular biology, still provides a good starting point for understanding
the field. This picture, however, is undergoing revision in light of
emerging novel roles for RNA. |
Much of the work in molecular biology is quantitative, and
recently much work has been done at the interface of molecular biology and
computer science in bioinformatics and computational biology. As of the early
2000s, the study of gene structure and function, molecular genetics, has been
among the most prominent sub-field of molecular biology.
Increasingly many other loops of biology focus on molecules,
either directly studying their interactions in their own right such as in cell
biology and developmental biology, or indirectly, where the techniques of
molecular biology are used to infer historical attributes of populations or
species, as in fields in evolutionary biology such as population genetics and
phylogenetics. There is also a long tradition of studying biomolecules
"from the ground up" in biophysics.