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β-Glucocerebrosidase (also called acid β-glucosidase, D-glucosyl-N-acylsphingosine glucohydrolase, or GCase) is an enzyme with glucosylceramidase activity (EC 3.2.1.45) that cleaves by hydrolysis the β-glycosidic linkage of the chemical glucocerebroside, an intermediate in glycolipid metabolism that is abundant in cell membranes (particularly skin cells). [5]
They come in all shapes and sizes. Some walk, some slither, some fly and some swim. Humans are blessed to share the planet with just over 2.1 million recognized species of animals.And scientists ...
The international pictogram for chemicals that are sensitising, mutagenic, carcinogenic or toxic to reproduction. In genetics, a mutagen is a physical or chemical agent that permanently changes genetic material, usually DNA, in an organism and thus increases the frequency of mutations above the natural background level.
It was hoped that the condition would be due to a mutation, and that genes identified from this snail and its offspring would help scientists unlock genetic markers in humans and other animals. [2] At first it was thought to be a rare genetic mutation, [3] although later work revealed that it was likely due to an accident in early development. [4]
There are several methods, or forms, of mutation that exist including spontaneous mutation, errors during replication and repair, as well as mutation due to environmental effects. [8] These origins of mutations can cause many different types of mutations which influence gene expression on both large and small scales.
Since 2014, it is illegal in the Netherlands to breed with parent cats which bear genetic mutations or other physical abnormalities that cause health or welfare issues in their offspring. [15] [16] Examples of these genetic mutations and physical abnormalities are dwarfism, the lack of protecting fur in hairless cats, and fold-eared cats.
A mutation accumulation (MA) experiment is a genetic experiment in which isolated and inbred lines of organisms (so-called MA lines) are maintained such that the effect of natural selection is minimized, with the aim of quantitatively estimating the rates at which spontaneous mutations (mutations not caused by exogenous mutagens) occur in the studied organism.
The most well-studied example is the Spike protein of SARS-CoV-2, which independently evolved at the same positions regardless of the underlying sublineage. [272] The most ominent examples from the pre-Omicron era were E484K and N501Y, while in the Omicron era examples include R493Q, R346X, N444X, L452X, N460X, F486X, and F490X.