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Term Definition
5’ region of active genes

A stretch of DNA just next to a gene, which is important for regulating its expression—whether it is turned on or off (for more information on gene regulation, check out this resource from scitable).

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Acetyl group

A small charged chemical group sometimes added to histones and other proteins modifying their properties.

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Acetylation

Describes a reaction, usually with acetic acid, that introduces an acetyl functional group into an organic compound.

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Active allele

An allele which is in the “on” state, or is expressed

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Active pocket

The region in catalytic proteins (enzymes) that modifies the target (substrate).

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Adenine

One of five varieties of organic base present in DNA and RNA. Adenine pairs with thymine (DNA) or uracil (RNA).

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Adult stem cells

Self-renewing cells present in the tissues of an adult organism (compare embryonic stem cell).

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Agouti gene

In mice, the agouti (A) gene controls the deposition of yellow pigment in developing hairs. There are several alleles (sequence variants) some of which are dominant, e.g. lethal yellow (Ay) which results in embryonic lethality if mice inherit 2 copies. Methylation of the agouti gene reduces its expression lowering the quantity of yellow pigment produced without altering the sequence of the gene.

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Allele

One of several alternative forms of a gene that occur at a given locus on a chromosome. Most often there are two paired copies of a gene on homologous chromosomes. For each of your gene you get one copy (allele) from each parent. They may be nearly identical in DNA sequence or have slight variations (i.e. mutations).

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Allele frequency

The proportion of one allele relative to all alleles at a locus in a population.

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Alpha thalassaemia myelodysplasia syndrome

(ATMDS) Also haemoglobin H disease. Overproduction of beta-globin chains caused by defective alpha chain production. Symptoms are mild anaemia and a swollen spleen. Haemoglobin H has a very high affinity for oxygen, but is not a stable carrier.

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Angelman syndrome

(AS) is a neurological disorder in which severe learning difficulties are associated with a characteristic facial appearance and behavior.

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Antibody

A protein created by white blood cells as part of the immune response to a foreign body. Antibodies bind specifically to proteins on the cell surface of invading cells. This process underlies tissue rejection. Further viruses and other, substances are recognized. Stereoselective antibodies also serve as chiral selectors, e.g. in bioanalysis of chiral drugs.

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Antisense transcription

The DNA double helix consists of two complementary sequence strands. For any one sequence there is a sense and complementary antisense strand, e.g. 5' ATTGCGCATT complements 3' TAACGCGTAA. The sense strand is defined as that normally transcribed and translated into mRNA and protein respectively. Antisense transcription refers to the making of RNA from the antisense strand. This RNA will complement RNA made from the sense sequence, and as such may bind to it preventing protein translation.

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Arabidopsis

Thale cress or Mouse-ear cress. A genus of flowering plants belonging to the mustard family (Brassicaceae). The Arabidopsis thaliana species is most commonly used in genetic research. The entire genome has been sequenced making this plant invaluable for functional genetic research. It plays the role for plant science that mouse and fruit fly (Drosophila) play in human biology.

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