Glossary Term
Nucleotide Excision Repair (NER) mends DNA regions that contain chemical adducts, such as UV-induced thymine dimers or carcinogenic adducts, which distort the DNA helix and interfere with replication and transcription. NER is targeted to actively transcribed regions of the genome. During NER in eukaryotes, shape irregularities are detected by protein complexes that slide along the DNA molecule and induce cuts on each side of a lesion several nucleotides away. Removal of the damaged 25-30 nucleotide fragment is followed by repair synthesis and ligation.
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Mutually exclusive alternative forms of the same gene occupying the same locus on homologous chromosomes, differing in nucleotide sequence and governing the same biochemical and developmental process.
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The paired nucleotides in a DNA or RNA sequence.
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A sequence pattern derived from the alignment of multiple sequences that represents the nucleotide or amino acid most likely to occur at each position in a sequence.
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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.
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A long linear double-stranded polymer formed from nucleotides attached to a deoxyribose backbone and found in the nucleus of a cell; associated with the transmission of genetic information.
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A text-based format for storing a biological sequence that encodes the nucleotide calls as well as their quality scores. It is an extension of the FASTA format.
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Genetic Variation consists of deviation(s) in the nucleotide sequence of the genetic material of an individual from that typical of the group to which the individual belongs, or deviation(s) in the nucleotide sequence of the genetic material of offspring from that of its parents.
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A molecule of RNA 200-17000 nucleotides in length that is transcribed by non-protein coding areas of DNA. These ribonucleotides may play a role in a variety of biological processes.
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A class of RNA molecule containing protein-coding information in its nucleotide sequence that can be translated into the amino acid sequence of a protein.
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A sequence of single-stranded RNA, that is 20-25 nucleotides in length, which is transcribed from DNA but is not translated into a protein. This nucleic acid may regulate the transcription or translation of other genes.
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Technologies that facilitate the rapid determination of the nucleotide sequence of large numbers of strands or segments of DNA or RNA.
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