Regulatory mutations and human genetic disease

Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 1992. Regulatory mutations and human genetic disease. Annals of Medicine 24 (6) , pp. 427-437. 10.3109/07853899209166991

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Abstract

Mutations in gene promoter/regulatory regions represent an important class of lesion causing human genetic disease. Such mutations are associated with either increases or decreases in transcriptional activity mediated by the altered binding behaviour of trans-acting protein factors to specific DNA sequences in the promoter region. Although most promoter mutations are individually very infrequent, some occur at polymorphic frequencies. Both categories of lesion are likely to be important in clinical medicine and their study has already led to new insights into the mechanisms underlying the regulation of human genes.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General)
Uncontrolled Keywords:	Human genetic disease, promoter/regulatory mutations.
Publisher:	Informa Healthcare
ISSN:	0785-3890
Last Modified:	27 Oct 2022 08:20
URI:	https://orca.cardiff.ac.uk/id/eprint/62032

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