PT  - JOURNAL ARTICLE
AU  - A O Wilkie
TI  - The molecular basis of genetic dominance.
AID  - 10.1136/jmg.31.2.89
DP  - 1994 Feb 01
TA  - Journal of Medical Genetics
PG  - 89--98
VI  - 31
IP  - 2
4099  - http://jmg.bmj.com/content/31/2/89.short
4100  - http://jmg.bmj.com/content/31/2/89.full
SO  - J Med Genet1994 Feb 01; 31
AB  - 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.