Novel KIT mutation presenting as marked lentiginosis.

Overview

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...

Bones have various surface features that help form joints and attach to other soft tissues. Depending on the function, bone markings are categorized into articulating projections, processes for attachment, depressions, and openings.
Articulating Projections
Articulating projections are found where two bones meet to form a joint. These structures are usually found at the ends of bones. The largest articulation is a rounded projection called the head, supported by a narrow neck at the ends of...

A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...

A device was created to demonstrate electromyography-based control to a lay audience. After the success of the initial device, a second device was made with greater flexibility in functionality for demonstration and research purposes. This protocol describes the process of building and calibrating both...

In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).