Glossary Term
Intron
Non-coding, intervening sequences of DNA that are transcribed, but are removed from within the primary gene transcript and rapidly degraded during maturation of messenger RNA.
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Glossary Term
Non-coding, intervening sequences of DNA that are transcribed, but are removed from within the primary gene transcript and rapidly degraded during maturation of messenger RNA.
Glossary Term
A point mutation occurring within the protein-coding region of a gene, and which codes for a different amino acid than expected.
Glossary Term
A point mutation occurring within the protein-coding region of a gene, and which codes for a stop that can truncate the protein.
Glossary Term
General term for a piece of DNA or RNA corresponding to a gene or sequence of interest, that has been labelled either radioactively or with some other detectable molecule, such as biotin, digoxygenin or fluorescein. As stretches of DNA or RNA with complementary sequences will hybridize, a probe will label viral plaques, bacterial colonies or bands on a gel that contain the gene of interest.
Glossary Term
Nonfunctional DNA sequences that are very similar to the sequences of known genes. Many seem to have arisen as functional gene duplications that subsequently underwent mutation and loss of function. Others are structurally similar to mRNA and seem to have arisen by a reverse transcription event followed by integration into the genome. Some pseudogenes are transcribed and may play a role in regulation of its homologous gene.
Glossary Term
Ribonuclease inhibitor (461 aa, ~50 kDa) is encoded by the human RNH1 gene. This protein plays a role in the inhibition of ribonucleases.
Glossary Term
A point mutation occurring within the protein-coding region of a gene, and which codes for the same amino acid as expected.
Glossary Term
Any mutation that occurs within the discrete sequences comprising the 5' or 3' splice sites of a gene that has a spliced message. Splice-site mutation may result in a deletion or insertion of extraneous amino acids in the gene product or a change in the reading frame of the spliced message.
Glossary Term
The product of so-called RNA genes; a functional RNA represents the final product of a gene rather than a transient molecule that will be translated into protein.