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PMID: 8182727 Published · ppublish English Journal Article Review

The molecular basis of genetic dominance.

Journal of medical genetics ·Vol. 31 ·No. 2 ·1994-02-00 ·Pages 89-98

Wilkie AO

Abstract

Studies of mutagenesis in many organisms indicate that the majority (over 90%) of mutations are recessive to wild type. If recessiveness represents the 'default' state, what are the distinguishing features that make a minority of mutations give rise to dominant or semidominant characters? This review draws on the rapid expansion in knowledge of molecular and cellular biology to classify the molecular mechanisms of dominant mutation. The categories discussed include (1) reduced gene dosage, expression, or protein activity (haploinsufficiency); (2) increased gene dosage; (3) ectopic or temporally altered mRNA expression; (4) increased or constitutive protein activity; (5) dominant negative effects; (6) altered structural proteins; (7) toxic protein alterations; and (8) new protein functions. This provides a framework for understanding the basis of dominant genetic phenomena in humans and other organisms.

MeSH Terms
Animals Gene Expression Genes, Dominant/physiology Genotype Humans Mutation/physiology Phenotype
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
Wilkie A O
Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff, UK.
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Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
0022-2593
DOI
10.1136/jmg.31.2.89
Published
1994-02-00
Pages
89-98
Language
English
Region
England
NLM ID
2985087R
PMCID
PMC1049666
Subset
IM
External Links
PubMed source DOI: 10.1136/jmg.31.2.89 PMC Full Text View journal details
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