Human Molecular Genetics, Vol 7, 1611-1618, Copyright © 1998 by Oxford University Press
DJ Kleinjan and V van Heyningen
The spatially, temporally and quantitatively correct expression of a gene
requires the presence not only of intact coding sequence, free of adverse
nucleotide changes, but also correctly functioning regulatory control. With
the identification of an increasing number of disease- related genes, the
molecular defect in many cases has been defined. It is becoming clear that
it is not always the transcription unit that bears the defect: there are a
number of cases where the regulation of gene expression has been
compromised. Cases associated with chromosomal rearrangement outside the
transcription and promoter regions are categorized as position effects. A
number of different mechanisms may explain their aetiology. Here, we
examine the human disorders where such position effects are implicated.
Further study of such cases may lead to important insights into mechanisms
of gene regulation and transcriptional control.
REVIEWS
Position effect in human genetic disease
MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK.
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