Glossary Term
Base Pair
The paired nucleotides in a DNA or RNA sequence.
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Glossary Term
The paired nucleotides in a DNA or RNA sequence.
Glossary Term
Drug-, radiation-induced, or spontaneous injuries to DNA that introduce deviations from its normal double-helical conformation. These changes include structural distortions that interfere with replication and transcription, as well as point mutations that disrupt base pairs and exert damaging effects on future generations through changes in DNA sequence. If the damage is minor, it can often be repaired (DNA repair); extensive damage can induce apoptosis.
Glossary Term
Initiation of DNA base excision repair (BER) involves a DNA glycosylase that binds the altered deoxynucleoside in an extrahelical position and catalyzes cleavage of the base-sugar bond. Subsequently, an AP endonuclease or AP lyase activity incises the abasic site, followed by short-patch gap-filling, excision of the base-free sugar-phosphate residue, and ligation.
Glossary Term
A nucleotide comprised of either a purine or pyrimidine nitrogenous base bound to a deoxyribose sugar esterified with three phosphate groups. These molecules are essential for DNA synthesis.
Glossary Term
An RNA complex consisting of two complementary base-paired strands of RNA.
Glossary Term
The mismatch repair (MMR) system promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination. This function is critically dependent on the assembly of multimeric complexes involved in mismatch recognition and signal transduction to downstream repair events.
Glossary Term
Any transmissible change in the genetic material of an organism, which can result from radiation, viral infection, transposition, treatment with mutagenic chemicals and errors during DNA replication or meiosis. The effects of mutation range from single base changes to loss or gain of complete chromosomes. As many of the simpler alterations to DNA may be repaired, such changes are only heritable once the change is fixed in the DNA by the process of replication. Mutations may be associated with genetic diversity or with pathologies including cancer.
Glossary Term
A subunit of DNA or RNA consisting of a nitrogenous base (adenine, guanine, thymine, or cytosine in DNA; adenine, guanine, uracil, or cytosine in RNA), a phosphate molecule, and a sugar molecule (deoxyribose in DNA and ribose in RNA).
Glossary Term
A score reported on a logarithmic scale representing the probability that a nucleotide base was incorrectly called by the base caller.
Glossary Term
A variation of a single nucleotide at a specific location of the genome due to base substitution, present at an appreciable frequency between individuals of a single interbreeding population.
Glossary Term
A variation of a single nucleotide at a specific location of the genome due to base substitution, which is found at any frequency in the population.
Glossary Term
A genetic process in which single-stranded RNA with base sequence complementary to a region of plus strand DNA is synthesized by DNA-dependent RNA polymerases. Following the binding of RNA polymerase on DNA promoter regions, the RNA product is synthesized in a 5' to 3' direction, elongating RNA along the DNA strand as the polymerase proceeds, accompanied by unwinding and rewinding of the DNA template.