Junctional diversity describes the
DNA
Deoxyribonucleic acid (; DNA) is a polymer composed of two polynucleotide chains that coil around each other to form a double helix. The polymer carries genetic instructions for the development, functioning, growth and reproduction of al ...
sequence variations introduced by the improper joining of
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
segments during the process of
V(D)J recombination
V(D)J recombination (variable–diversity–joining rearrangement) is the mechanism of somatic recombination that occurs only in developing lymphocytes during the early stages of T and B cell maturation. It results in the highly diverse repertoire ...
. This process of V(D)J recombination has vital roles for the
vertebrate
Vertebrates () are animals with a vertebral column (backbone or spine), and a cranium, or skull. The vertebral column surrounds and protects the spinal cord, while the cranium protects the brain.
The vertebrates make up the subphylum Vertebra ...
immune system
The immune system is a network of biological systems that protects an organism from diseases. It detects and responds to a wide variety of pathogens, from viruses to bacteria, as well as Tumor immunology, cancer cells, Parasitic worm, parasitic ...
, as it is able to generate a huge repertoire of different
T-cell receptor
The T-cell receptor (TCR) is a protein complex, located on the surface of T cells (also called T lymphocytes). They are responsible for recognizing fragments of antigen as peptides bound to major histocompatibility complex (MHC) molecules. ...
(TCR) and
immunoglobulin molecules required for
pathogen
In biology, a pathogen (, "suffering", "passion" and , "producer of"), in the oldest and broadest sense, is any organism or agent that can produce disease. A pathogen may also be referred to as an infectious agent, or simply a Germ theory of d ...
antigen
In immunology, an antigen (Ag) is a molecule, moiety, foreign particulate matter, or an allergen, such as pollen, that can bind to a specific antibody or T-cell receptor. The presence of antigens in the body may trigger an immune response.
...
recognition by T-cells and B cells, respectively.
Process
Junctional diversity includes the process of somatic recombination or
V(D)J recombination
V(D)J recombination (variable–diversity–joining rearrangement) is the mechanism of somatic recombination that occurs only in developing lymphocytes during the early stages of T and B cell maturation. It results in the highly diverse repertoire ...
, during which the different variable gene segments (those segments involved in antigen recognition) of TCRs and immunoglobulins are rearranged and unused segments removed. This introduces
double-strand breaks between the required segments. These ends form hairpin loops and must be joined together to form a single strand (summarised in diagram, right). This joining is a very inaccurate process that results in the variable addition or subtraction of
nucleotide
Nucleotides are Organic compound, organic molecules composed of a nitrogenous base, a pentose sugar and a phosphate. They serve as monomeric units of the nucleic acid polymers – deoxyribonucleic acid (DNA) and ribonucleic acid (RNA), both o ...
s and, thus, generates junctional diversity.
Generation of junctional diversity starts as the proteins,
recombination activating gene-1 and -2 (RAG1 and RAG2), along with DNA repair proteins, such as
Artemis
In ancient Greek religion and Greek mythology, mythology, Artemis (; ) is the goddess of the hunting, hunt, the wilderness, wild animals, transitions, nature, vegetation, childbirth, Kourotrophos, care of children, and chastity. In later tim ...
,
are responsible for single-stranded cleavage of the hairpin loops and addition of a series of
palindromic, 'P' nucleotides. Subsequent to this, the enzyme,
terminal deoxynucleotidyl transferase (TdT), adds further random 'N' nucleotides. The newly synthesised strands anneal to one another, but mismatches are common.
Exonucleases remove these unpaired nucleotides and the gaps are filled by
DNA synthesis and
repair machinery.
Exonucleases may also cause shortening of this junction, however this process is still poorly understood.
Junctional diversity is liable to cause
frame-shift mutations and thus production of non-functional proteins. Therefore,
there is considerable waste involved in this process.
References
{{DEFAULTSORT:Junctional Diversity
Immune system
Lymphocytes