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3 days ago · A mutation is a change in a DNA sequence. Mutations can result from DNA copying mistakes made during cell division, exposure to ionizing radiation, exposure to chemicals called mutagens, or infection by viruses.
4 days ago · The mutation is a point mutation, replacing the normal amino acid valine (V) with phenylalanine (F) in the DNA of one gene. This causes the JAK2 protein to be constantly switched "on," leading to uncontrolled blood cell production.
- www.genome.gov
- › …
- › Talking Glossary of Genomic and Genetic Terms
2 days ago · A deletion, as related to genomics, is a type of mutation that involves the loss of one or more nucleotides from a segment of DNA. A deletion can involve the loss of any number of nucleotides, from a single nucleotide to an entire piece of a chromosome.
- www.genome.gov
- › …
- › Talking Glossary of Genomic and Genetic Terms
3 days ago · A point mutation occurs in a genome when a single base pair is added, deleted or changed. While most point mutations are benign, they can also have various functional consequences, including changes in gene expression or alterations in encoded proteins.
Jun 29, 2024 · A mutation is a heritable change in the genetic material of an individual. The change can be large or small. Large changes involve the loss, addition, duplication, or rearrangement of whole chromosomes or chromosome segments. The smallest changes, called point mutations, alter only a single base.
4 days ago · Among the hallmarks are: (1) increased proliferative activity, (2) evasion of growth suppression, (3) resistance to cell death, (4) acquired immortality, and (5) acquired ability to spread to and invade distant tissues and to stimulate angiogenesis (the formation of blood vessels ).
5 days ago · Translocations are chromosome mutations in which chromosome segments, and the genes they contain, change positions. Translocations can occur within a chromosome (intrachromosomal) or between chromosomes (interchromosomal).
3 days ago · Mutations - Polyploidy. Polyploidy describes the case of a cell or an individual possessing entire extra sets of chromosomes. The type of polyploidy is designated by the number of haploid (N) sets that are present. Triploid (3N) individuals have three sets of chromosomes while tetraploid (4N) individuals have four.
4 days ago · The R567W mutation, a seemingly innocuous change, disrupted CTCF's ability to bind to certain genomic regions, particularly those harboring the upstream motifs. This disruption in binding caused a reorganization of chromatin interactions, reshaping the three-dimensional landscape of the genome and changing gene expression patterns.
2 days ago · A mutation that can undermine two-drug treatment with dolutegravir and lamivudine persists for at least 12 years in the ‘archive’ of HIV locked up in the DNA of blood cells in one in three people, French researchers report. Their study tracked disappearance of the mutation in people with suppressed viral load on antiretroviral treatment.
