Imprinting

Chromosomes, and the genes they contain, are inherited in pairs, with one copy of each supplied from each parent. For most genes, both members of the pair, called the maternal and paternal alleles, are used equally. Both are expressed (read by the transcription machinery to make protein) in roughly equal amounts.

In contrast, for most imprinted genes, only one allele is expressed, while the other copy is silenced by imprinting. For some genes it is the maternal copy, for others it is the paternal copy. This is an exception to the Mendelian assumption that the two parents contribute equally to the phenotype controlled by autosomal genes. For some genes, both alleles are expressed, but one copy is expressed much more than the other. For some genes, the silencing occurs in some tissues but not others.

Imprinted genes should not be confused with sex-linked genes, which are carried on the X or Y chromosome. Most imprinted alleles are located on autosomes, but are "stamped" with the sex of the parent that contributed them.

Imprinting should also not be confused with dominant and recessive alleles, in which one allele always controls the phenotype at the expense of Imprinting silences a gene based on the sex of the parent it came from. The imprint is reset in each new generation. the other, because of differences in the alleles themselves. The "dominance" seen in imprinting is determined by the sex of the parent contributing the allele, not any property of the allele itself. Thus, a particular allele will appear to be recessive when inherited from one parent, but dominant when inherited from the other. Such an effect, in which the expression difference is not due to the alleles but to forces acting on them from outside, is termed an "epigenetic effect."

Imprinting is thought to be responsible for many cases of incomplete penetrance, an inheritance pattern in which a dominant gene (as for a genetic disease) is not expressed in some individuals despite being present. Imprinting offers a mechanism by which a particular allele can be turned on or turned off as it is passed down through successive generations.