| THE MOLECULAR-BASIS OF GENETIC DOMINANCE |
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| Author(s): WILKIE AOM |
| Source: JOURNAL OF MEDICAL GENETICS Volume: 31 Issue: 2 Pages: 89-98 Published: FEB 1994 |
| Times Cited: 117 References: 124 |
| 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. |
| Document Type: Review |
| Language: English |
Addresses:
1. UNIV HOSP WALES, INST MED GENET, CARDIFF CF4 4XW, WALES |
| Publisher: BRITISH MED JOURNAL PUBL GROUP, BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON, ENGLAND WC1H 9JR |
| Subject Category: Genetics & Heredity |
| IDS Number: MW006 |
| ISSN: 0022-2593 |