Cells normally have two copies (alleles) of autosomal genes on chromosomes other than the X and Y. One allele is inherited from the mother (maternal allele) and one is inherited from the father (paternal allele). For most genes, both copies are expressed by the cell. However, a small class of genes is “monoallelically” expressed,” i.e. transcribed preferentially from a single allele in each cell (Table 12.1). In most cases of monoallelic gene expression, cells randomly select only one allele to encode RNA and protein for that gene. This is typical in cells of the immune system and in olfactory neurons, and is considered to be a way of ensuring that a single kind of receptor is displayed on the cell surface. An exception is genomic imprinting where selection of the active allele is nonrandom and based on the parent of origin. Monoallelic expression in mammals is exemplified by genomic imprinting, X chromosome inactivation, and allelic exclusion. Epigenetic silencing mechanisms play a role in all three systems. In addition, programmed gene rearrangements – rearrangements of DNA that regulate the expression of some genes – play a central role in some forms of allelic exclusion. Classic examples include mating-type switching in yeast, antigen switching in trypanosomes, and V(D)J recombination in the mammalian immune system. The primary function of eukaryotic DNA methylation may be defense of the genome from the potentially detrimental effects of transposable elements. An overview of the types of transposable elements and the phenotypic consequences of their movement within the genome is followed by a discussion of their epigenetic silencing.
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