Germline epimutation in humans
by
Cropley JE, Martin DI, Suter CM.
Molecular Genetics Division,
Victor Chang Cardiac Research Institute,
Sydney, Australia.
Pharmacogenomics. 2008 Dec;9(12):1861-8.

ABSTRACT

Epigenetic modifications provide all multicellular organisms with a system of gene regulation that allows clonally heritable yet reversible alterations in gene transcription. Errors in this complex system can give rise to abnormal gene silencing, termed 'epimutation'; importantly, this can occur in the absence of any underlying genetic defect. Epimutations are commonly somatic events, and are particularly prevalent in tumors, but we and others have shown that epimutation can also arise in the germline, giving rise to soma-wide transcriptional silencing of a gene. A germline epimutation can mimic the effect of an inactivating mutation, and in doing so, can phenocopy a genetic disease. In this article, we will review the recent findings with germline epimutation at the tumor suppressor gene MLH1, discuss the possible etiology of this phenomenon, and the implications of germline epimutation in humans.

Biohappiness
Liberal Eugenics
Genospirituality
Private eugenics
'Designer babies'
Personal genomics
Genetic enhancement
Ashkenazi intelligence
Eugenics before Galton
Scandanavian eugenics
The literature of eugenics
Human self-domestication
Germline genetic engineering
Preimplantation genetic diagnosis
A life without pain? Hedonists take note'
Francis Galton and contemporary eugenics
Gene therapy and performance enhancement
5-HTT and AP-2beta gene polymorphism/spirituality
Developmental and environmental variation in genomes

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