Epigenetic autosomal mosaicism

Last updated on: 27.07.2021

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Definition
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The assumption that autosomal mosaics are not hereditary has been refuted: hereditary autosomal epigenetic mosaics have been detected in mice, dogs and other mammals. Since a large number of retrotransposons are also present in the human genome - it is estimated that they account for 42 percent of the genome, although the majority remain inactive - it is assumed that human autosomal mosaics can also be caused by the activity of retrotransposons and thus be inherited.

This would explain why autosomal mosaic states sometimes occur in several family members, as has been observed, for example, in striped pigment disorders or in inflammatory linear verrucous epidermal hamartoma.

Last updated on: 27.07.2021

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