Advancing Epigenetics Towards Systems Biology

Glossary

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Term Definition
Polar overdominance
Unique form of inheritance (described in sheep) whereby a mutant Callipyge allele must be inherited from the father to cause muscle hypertrophy (big buttocks).
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Polycomb-group proteins
A family of proteins first discovered in fruit flies that can remodel chromatin such that transcription factors cannot bind to promoter sequences in DNA. In Drosophila, the Trithorax-group (trxG) and Polycomb-group (PcG) proteins act antagonistically and interact with chromosomal elements, termed Cellular Memory Modules (CMMs).
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Polymorphisms
Two or more kinds of DNA sequence variations maintained in a breeding population
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Position-effect variegation
(PEV) Variegation caused by the inactivation of a gene in some cells through its abnormal juxtaposition with heterochromatin.
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Posttranscriptional gene silencing
Gene silencing effected by the interception of RNA after transcription (compare transcriptional silencing; see RNA interference).
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Posttranslational modification
Endogenous covalent modification of proteins either by peptide-splicing or by modification of specific amino acids (e.g. through phosphorylation, acetylation etc.).
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Prader-Willi syndrome
(PWS) A genetic disorder characterized by severe hypotonia and feeding difficulties in early infancy, followed in later infancy or early childhood by excessive eating and gradual development of morbid obesity.
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Protein
A polypeptide chain or complex of polypeptide chains, each consisting of a long string of amino acids. Amino acid sequences are specified by the underlying DNA sequence of the gene that encodes that protein.
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Purine
Nitrogen-containing organic bases made from a double ring structure. Includes adenine and guanine, which base-pair with pyrimidines to form the rungs in the DNA double helical ladder.
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Pyrimidine
Nitrogen-containing organic bases made from a single ring structure. Includes cytosine and thymine (DNA) and uracil (RNA) that base-pair with purines to form the rungs in the DNA double helical ladder.
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Recessive
One member of an allelic pair lacking the ability to manifest itself (unable to determine the phenotype) when the other or dominant member is present.
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Recombination
1. The exchange of chromosomal segments that occurs when homologous DNA sequences become closely associated. This is how the genetic information from mother and father changes in every generation to give genetically unique offspring. 2. Molecular process representing double strand break (DSB) DNA repair. Homologous recombination (HR), involves two homologous DNA double strands that may or may not result in crossing over of the initial DNA strands.
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Regulatory elements
DNA sequences to which regulatory proteins like transcription factors bind. They are classed as promoters, enhancers, silencers, chromatin insulators or cellular memory modules (CMMs).
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Repressed allele
An allele which is in the “off” state, or is repressed.
Repression
When expression of an allele is blocked.