The molecular basis of genetic dominance

Journal of Medical Genetics

Volumn 31, Issue 2, 1994, Pages 89-98

  Wilkie, Andrew O M ^a,b  

^a UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^b JOHN RADCLIFFE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; STRUCTURAL PROTEIN;

DOMINANT GENE; DOMINANT INHERITANCE; GENE DOSAGE; GENE EXPRESSION; GENE MUTATION; GENETIC DISORDER; HUMAN; MESSENGER RNA SYNTHESIS; MUTAGENESIS; MUTATION RATE; PRIORITY JOURNAL; PROTEIN DEFECT; RECESSIVE INHERITANCE; REVIEW;

EID: 0028014337     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.31.2.89     Document Type: Review

References (124)

1. Bennett JH, ed. Experiments in plant hybridisation by G Mendel. London: Oliver & Boyd, 1965.
2. Vogel F, Motulsky AG. Human genetics: problems and approaches. 2nd ed. Berlin: Springer Verlag, 1986:228-333.
3. Jackson IJ. Mouse coat colour mutations: a molecular genetic resource which spans the centuries. Bioessays 1991;13:439-46.
4. Pauli RM, Conroy MM, Langer LO, et al. Homozygous achondroplasia with survival beyond infancy. Am J Med Genet 1983;16:459-73.
5. Hultén MA, Honeyman MM, Mayne AJ, Tarlow MJ. Homozygosity in piebald trait. J Med Genet 1987;24:568-71.
6. Pauli RM. Dominance and homozygosity in man. Am J Med Genet 1983;16:455-8.
7. Wexler NS, Young AB, Tanzi RE, et al. Homozygotes for Huntington's disease. Nature 1987;326:194-7.
8. Myers RH, Leavitt J, Farrer LA, et al. Homozygote for Huntington disease. Am J Hum Genet 1989;45:615-8.
9. The Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993;72:971-83.
10. McKusick VA. Mendelian inheritance in man: catalogs of autosomal dominant, autosomal recessive, and X linked phenotypes. 10th ed. Baltimore: Johns Hopkins University Press, 1992:xxi.
11. Vogel F, Motulsky AG. Human genetics: problems and approaches. 2nd ed. Berlin: Springer Verlag, 1986:128-9.
12. Jaenisch R. Transgenic animals. Science 1988;240:1468-74.
13. Friedrich G, Soriano P. Promoter traps in embryonic stem cells: a genetic screen to identify and mutate developmental genes in mice. Genes Der 1991;5:1513-23.
14. Orr HA. A test of Fisher's theory of dominance. Proc Natl Acad Sci USA 1991;88:11413-5.
15. Charlesworth B. When to be diploid. Nature 1991;351:273-4.
16. Kondrashov AS, Crow JF. Haploidy or diploidy: which is better? Nature 1991;351:314-5.
17. Perrot V, Richerd S, Valéro M. Transition from haploidy to diploidy. Nature 1991;351:315-7.
18. Kacser H, Burns JA. The molecular basis of dominance. Genetics 1981;97:639-66.
19. Hodgkin J, Papp A, Pulak R, Ambros V, Anderson P. A new kind of informational suppression in the nematode Caenorhabditis elegans. Genetics 1989;123:301-13.
20. Hodgkin J. Fluxes, doses and poisons: molecular perspectives on dominance. Trends Genet 1993;9:1-2.
21. Li E, Sucov HM, Lee KF, Evans RM, Jaenisch R. Normal development and growth of mice carrying a targeted disruption of the α1 retinoic acid receptor gene. Proc Nail Acad Sci USA 1993;90:1590-4.
22. Park EC, Horvitz HR. Mutations with dominant effects on the behavior and morphology of the nematode Caenorhabditis elegans. Genetics 1986;113:821-52.
23. Muller HJ. Further studies on the nature and causes of gene mutations. In: Jones DF, ed. Proceedings of the sixth international congress of genetics. Brooklyn Botanic Gardens, Wisconsin, 1932:213-55.
24. Carlson EA. Defining the gene: an evolving concept. Am J Hum Genet 1991;49:475-87.
25. Lindsley DL, Sandler L, Baker BS, et al. Segmental aneuploidy and the genetic gross structure of the Drosophila genome. Genetics 1972;71:157-84.
26. Ingham P, Smith J. Crossing the threshold. Curr Biol 1992;2:465-7.
27. Willing MC, Pruchno CJ, Atkinson M, Byers PH. Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen. Am J Hum Genet 1992;51:508-15.
28. Goldstein JL, Sobhani MK, Faust JR, Brown MS. Heterozygous familial hypercholesterolemia: failure of normal allele to compensate for mutant allele at a regulated genetic locus. Cell 1976;9:195-203.
29. Lachmann PJ, Rosen FS. The catabolism of C1-inhibitor and the pathogenesis of hereditary angio-edema. Acta Pathol Microbiol Immunol Scand 1984;92 (Sect C, suppl 284):35-9.
30. Tassabehji M, Read AP, Newton VE, et al. Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2. Nature Genet 1993;3:26-30.
31. Gruss P, Walther C. Pax in development. Cell 1992;69:719-22.
32. Glaser T, Walton DS, Maas RL. Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene. Nature Genet 1992;2:232-8.
33. Vortkamp A, Gessler M, Grzeschik KH. GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families. Nature 1991;352:539-40.
34. Schimmang T, Lemaistre M, Vortkamp A, Ruther U. Expression of the zinc finger gene Gli3 is affected in the morphogenetic mouse mutant extra-toes (Xt). Development 1992;116:799-804.
35. Hastie ND. Dominant negative mutations in the Wilms tumour (WT1) gene cause Denys-Drash syndrome - proof that a tumour-suppressor gene plays a crucial role in normal genitourinary development. Hum Mol Genet 1992;1:293-5.
36. Little MH, Williamson KA, Mannens M, et al. Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant negative fashion. Hum Mol Genet 1993;2:259-64.
37. McInnes RR, Bascom RA. Retinal genetics: a nullifying effect for rhodopsin. Nature Genet 1992;1:155-7.
38. Spritz RA, Holmes SA, Ramesar R, Greenberg J, Curtis D, Beighton P. Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism. Am J Hum Genet 1992;51:1058-65.
39. Younger-Shepherd S, Vaessin H, Bier E, Jan LY, Jan YN. deadpan, an essential pan-neural gene encoding an HLH protein, acts as a denominator in Drosophila sex determination. Cell 1992;70:911-22.
40. Isoda K, Roth S, Nüsslein-Volhard C. The functional domains of the Drosophila morphogen dorsal: evidence from the analysis of mutants. Genes Dev 1992;6:619-30.
41. Jiang J, Levine M. Binding affinities and cooperative interactions with bHLH activators delimit threshold responses to the dorsal gradient morphogen. Cell 1993;72:741-52.
42. St Johnston D, Nüsslein-Volhard C. The origin of pattern and polarity in the Drosophila embryo. Cell 1992;68:201-19.
43. Holtzman DM, Epstein CJ. The molecular genetics of Down syndrome. Mol Genet Med 1992;2:105-20.
44. Patel PI, Roa BB, Welcher AA, et al. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nature Genet 1992;1:159-65.
45. Chance PF, Alderson MK, Leppig KA, et al. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 1993;72:143-51.
46. Bishop JM. Molecular themes in oncogenesis. Cell 1991;64:235-48.
47. Oliner JD, Kinzler KW, Meltzer PS, George DL, Vogelstein B. Amplification of a gene encoding a p53-associated protein in human sarcomas. Nature 1992;358:80-3.
48. Ruvkun G, Wightman B, Burglin T, Arasu P. Dominant gain-of-function mutations that lead to misregulation of the C elegans heterochronic gene lin-14, and the evolutionary implications of dominant mutations in patternformation genes. Development 1991;S1:47-54.
49. Martin DIK, Tsai SF, Orkin SH. increased γ-globin expression in a nondeletion HPFH mediated by an erythroid-specific DNA-binding factor. Nature 1989;338:435-8.
50. Feingold EA, Forget BG. The breakpoint of a large deletion causing hereditary persistence of fetal hemoglobin occurs within an erythroid DNA domain remote from the β-globin gene cluster. Blood 1989;74:2178-86.
51. White RAH, Akam ME. Contrabithorax mutations cause inappropriate expression of Ultrabithorax products in Drosophila. Nature 1985;318:567-9.
52. Schneuwly S, Kuroiwa A, Gehring WJ. Molecular analysis of the dominant homeotic Antennapedia phenotype. EMBO J 1987;6:201-6.
53. Cleary ML. Oncogenic conversion of transcription factors by chromosomal translocations. Cell 1991;66:619-22.
54. Rabbitts TH. Translocations, master genes, and differences between the origins of acute and chronic leukemias. Cell 1991;67:641-1.
55. Trent C, Wood WB, Horvitz HR. A novel dominant transformer allele of the sex-determining gene her-1 of Caenorhabditis elegans. Genetics 1988;120:145-57.
56. Miller MW, Duhl DMJ, Vrieling H, et al. Cloning of the mouse agouti gene predicts a secreted protein ubiquitously expressed in mice carrying the lethal yellow mutation. Genes Dev 1993;7:454-67.
57. y) is associated with the disruption of a novel RNA-binding protein. Genes Dev 1993;7:1203-13.
58. Bruening W, Bardeesy N, Silverman BL, et al. Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development. Nature Genet 1992;1:144-8.
59. Bickmore WA, Oghene K, Little MH, Seawright A, van Heyningen V, Hastie ND. Modulation of DNA binding specificity by alternative splicing of the Wilms tumor wt 1 gene transcript. Science 1992;257:235-7.
60. Rogers S, Wells R, Rechsteiner M. Amino acid sequences common to rapidly degraded proteins: the PEST hypothesis. Science 1986;234:364-8.
61. Reed SI. G1-specific cyclins: in search of an S-phase-promoting factor. Trends Genet 1991;7:95-9.
62. Mango SE, Maine EM, Kimble J. Carboxy-terminal truncation activates glp-1 protein to specify vulval fates in Caenorhabditis elegans. Nature 1991;352:811-5.
63. Bourne HR, Sanders DA, McCormick F. The GTPase superfamily: conserved structure and molecular mechanism. Nature 1991;349:117-27.
64. Beitel G, Clark S, Horvitz HR. The Caenorhabditis elegans ras gene let-60 acts as a switch in the pathway of vulval induction. Nature 1990;348:503-9.
65. Han M, Sternberg PW. Analysis of dominant-negative mutations of the Caenorhabditis elegans let-60 ras gene. Genes Dev 1991;5:2188-98.
66. Schneider DS, Hudson KL, Lin TY, Anderson KV Dominant and recessive mutations define functional domains of Toll, a transmembrane protein required for dorsalventral polarity in the Drosophila embryo. Genes Dev 1991;5:797-807.
67. Vogelstein B. A deadly inheritance. Nature 1990;348:681-2.
68. Vogelstein B, Kinzler KW. p53 function and dysfunction Cell 1992;70:523-6.
69. Milner J, Medcalf EA. Cotranslation of activated mutant p53 with wild type drives the wild-type p53 protein into the mutant conformation. Cell 1991;65:765-74.
70. Weinstein LS, Shenker A, Gejman PV, Merino MJ, Friedman E, Spiegel AM. Activating mutations of the stimulatorv G protein in the McCune-Albright syndrome. N Engl J Med 1991;325:1688-95.
71. Schwindinger WF, Francomano CA, Levine MA. Identification of a mutation in the gene encoding the α. subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome. Proc Natl Acad Sci USA 1992;89:5152-6.
72. Ptácek LJ, George AL, Griggs RC, et al. Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell 1991;67:1021-7.
73. + channel α-subunit in hyperkalaemic periodic paralysis. Nature 1991;354:387-9.
74. McClatchey AI, Van den Bergh P, Pericak-Vance MA, et al. Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. Cell 1992;68:769-74.
75. Valentijn LJ, Baas F, Wolterman RA, et al. Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. Nature Genet 1992;2:288-91.
76. Kelley MR, Kidd S, Deutsch WA, Young MW. Mutations altering the structure of epidermal growth factor-like coding sequences at the Drosophila Notch locus. Cell 1987;51:539-48.
77. Xu T, Rebay I, Fleming RJ, Scottgale TN, Artavanis-Tsakonas S. The Notch locus and the genetic circuitry involved in early Drosophila neurogenesis. Genes Dev 1990;4:464-75.
78. Herskowitz I. Functional inactivation of genes by dominant negative mutations. Nature 1987;329:219-22.
79. Amaya E, Musci TJ, Kirschner MW. Expression of a dominant negative mutant of the FGF receptor disrupts mesoderm formation in Xenopus embryos. Cell 1991;66:257-70.
80. Leone G, Maybaum L, Lee PWK. The reovirus cell attachment protein possesses two independently active trimerization domains: basis of dominant negative effects. Cell 1992;71:479-88.
81. Benezra R, Davis RL, Lockshon D, Turner DL, Weintraub H. The protein Id: a negative regulator of helix-loop-helix DNA binding proteins. Cell 1990;61:49-59.
82. Deng T, Karin M. JunB differs from c-Jun in its DNA-binding and dimerization domains, and represses c-Jun by formation of inactive heterodimers. Genes Dev: 1993;7:479-90.
83. Harada H, Fujita T, Miyamoto M, et al. Structurally similar but functionally distinct factors, IRF-1 and IRF-2, bind to the same regulatory elements of IFN and IFN-inducible genes. Cell 1989;58:729-39.
84. Sykes B. Bone disease cracks genetics. Nature 1990;348:18-20.
85. Byers PH, Wallis GA, Willing MC. Osteogenesis imperfecta: translation of mutation to phenotype. J Med Genet 1991;28:433-42.
86. Dietz HC, Cutting GR, Pyeritz RE, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991;352:337-9.
87. Milewicz DMcG, Pyeritz RE, Crawford ES, Byers PH. Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts. J Clin Invest 1992;89:79-86.
88. Bejsovec A, Anderson P. Functions of the myosin ATP and actin binding sites are required for C elegans thick filament assembly. Cell 1990;60:133-40.
89. Watkins H, Rosenzweig A, Hwang DS, et al. Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med 1992;326:1108-14.
90. Fuchs E, Coulombe PA. Of mice and men: genetic skin diseases of keratin. Cell 1992;69:899-902.
91. Monplaisir N, Merault G, Poyart C, et al. Hemoglobin S Antilles: a variant with lower solubility than hemoglobin S and producing sickle cell disease in heterozygotes. Proc Natl Acad Sci USA 1986;83:9363-7.
92. Driscoll M, Chalfie M. The mec-4 gene is a member of a family of Caenorhabditis elegans genes that can mutate to induce neuronal degeneration. Nature 1991;349:588-93.
93. Johnson R, Jackson IJ. Light is a dominant mouse mutation resulting in premature cell death. Nature Genet 1992;1:226-9.
94. Citron M, Oltersdorf T, Haass C, et al. Mutation of the β-amyloid precursor protein in familial Alzheimer's disease increases β-protein production, Nature 1992;360:672-4.
95. Benson MD, Liepnieks J, Uemichi T, Wheeler G, Correa R. Hereditary renal amyloidosis associated with a mutant fibrinogen α-chain. Nature Genet 1993;3:252-5.
96. Pepys MB, Hawkins PN, Booth DR, et al. Human lysozyme gene mutations cause hereditary systemic amyloidosis. Nature 1993;362:553-7.
97. Fersht A, Winter G. Protein engineering. Trends Biochem Sci 1992;17:292-4.
98. Owen MC, Brennan SO, Lewis JH, Carrell RW. Mutation of antitrypsin to antithrombin. α1-antitrypsin Pittsburgh (358 Met→Arg), a fatal bleeding disorder. N Engl J Med 1983;309:694-8.
99. Kim CM, Goldstein JL, Brown MS. cDNA cloning of MEV, a mutant protein that facilitates cellular uptake of mevalonate, and identification of the point mutation responsible for its gain of function, J Biol Chem 1992;267:23113-21.
100. Kurzrock R, Gutterman JU, Talpaz M. The molecular genetics of Philadelphia chromosome-positive leukemias. N Engl J Med 1988;319:990-8.
101. Barr FG, Galili N, Holick J, Biegel JA, Rovera G, Emanuel BS. Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma. Nature Genet 1993;3:113-7.
102. Dreesen TD, Henikoff S, Loughney K. A pairing-sensitive element that mediates trans-inactivation is associated with the Drosophila brown gene. Genes Dev 1991;5:331-40.
103. Tartof KD, Henikoff S. Trans-sensing effects from Drosophila to humans. Cell 1991;65:201-3.
104. Flavell RB. Variation in structure and expression of ribosomal DNA loci in wheat. Genome 1989;31:963-8.
105. Lyttle TW. Cheaters sometimes prosper: distortion of mendelian segregation by meiotic drive. Trends Genet 1993;9:205-10.
106. Hays TS, Deuring R, Robertson B, Prout M, Fuller MT. Interacting proteins identified by genetic interactions: a missense mutation in α-tubulin fails to complement alleles of the testis-specific β-tubulin gene of Drosophila melanogaster. Mol Cell Biol 1989;9:875-884.
107. Beggs AH, Neumann PE, Arahata K, et al. Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy. Proc Natl Acad Sci USA 1992;89:623-7.
108. Johnson WG. Metabolic interference and the + - heterozygote. A hypothetical form of simple inheritance which is neither dominant nor recessive. Am J Hum Genet 1980;32:374-86.
109. Knudson AG. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Aci USA 1971;68:820-3.
110. Cavenee WK, Dryja TP, Phillips RA, et al. Expression of recessive alleles by chromosomal mechanisms in retinoblastoma. Nature 1983;305:779-84.
111. DeChiara TM, Robertson EJ, Efstratiadis A. Parental imprinting of the mouse insulin-like growth factor II gene. Cell 1991;64:849-59.
112. Koufos A, Grundy P, Morgan K, et al. Familial Wiedemann-Beckwith syndrome and a second Wilms tumor locus both map to 11p15.5. Am J Hum Genet 1989;44:711-19.
113. Heutink P, van der Mey AGL, Sandkuiji LA, et al. A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter. Hum Mol Genet 1992;1:7-10.
114. Tommerup N. Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders. J Med Genet 1993;30:713-27.
115. Bourne HR. Consider the coiled coil . . . Nature 1991;351:188-90.
116. Bourne HR. Suppression with a difference. Nature 1991;353:696-8.
117. Miyoshi Y, Ando H, Nagase H, et al. Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. Proc Natl Acad Sci USA 1992;89:4452-6.
118. Powell SM, Zilz N, Beazer-Barclay Y, et al. APC mutations occur early during colorectal tumorigenesis. Nature 1992;359:235-7.
119. Pieretti M, Zhang F, Fu YH, et al. Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 1991;66:817-22.
120. Sabouri LA, Mahadevan MS, Narang M, Lee DSC, Surh LC, Korneluk RG. Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene. Nature Genet 1993;4:233-8.
121. Fu YH, Friedman DL, Richards S, et al. Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy. Science 1993;260:235-8.
122. Hofmann-Radvanyi H, Lavedan C, Rabes JP, et al. Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele. Hum Mol Genet 1993;2:1263-6.
123. Mandel JL. Questions of expansion. Nature Genet 1993;4:8-9.
124. Miller AD. Human gene therapy comes of age. Nature 1992;357:455-60.