Logo of jmedgeneJournal of Medical GeneticsVisit this articleSubmit a manuscriptReceive email alertsContact usBMJ
J Med Genet. 1994 Feb; 31(2): 89–98.
PMCID: PMC1049666

The molecular basis of genetic dominance.


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.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (2.1M), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.

Images in this article

Click on the image to see a larger version.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Jackson IJ. Mouse coat colour mutations: a molecular genetic resource which spans the centuries. Bioessays. 1991 Sep;13(9):439–446. [PubMed]
  • Pauli RM, Conroy MM, Langer LO, Jr, McLone DG, Naidich T, Franciosi R, Ratner IM, Copps SC. Homozygous achondroplasia with survival beyond infancy. Am J Med Genet. 1983 Dec;16(4):459–473. [PubMed]
  • Hultén MA, Honeyman MM, Mayne AJ, Tarlow MJ. Homozygosity in piebald trait. J Med Genet. 1987 Sep;24(9):568–571. [PMC free article] [PubMed]
  • Pauli RM. Dominance and homozygosity in man. Am J Med Genet. 1983 Dec;16(4):455–458. [PubMed]
  • Wexler NS, Young AB, Tanzi RE, Travers H, Starosta-Rubinstein S, Penney JB, Snodgrass SR, Shoulson I, Gomez F, Ramos Arroyo MA, et al. Homozygotes for Huntington's disease. Nature. 1987 Mar 12;326(6109):194–197. [PubMed]
  • Myers RH, Leavitt J, Farrer LA, Jagadeesh J, McFarlane H, Mastromauro CA, Mark RJ, Gusella JF. Homozygote for Huntington disease. Am J Hum Genet. 1989 Oct;45(4):615–618. [PMC free article] [PubMed]
  • Jaenisch R. Transgenic animals. Science. 1988 Jun 10;240(4858):1468–1474. [PubMed]
  • Friedrich G, Soriano P. Promoter traps in embryonic stem cells: a genetic screen to identify and mutate developmental genes in mice. Genes Dev. 1991 Sep;5(9):1513–1523. [PubMed]
  • Orr HA. A test of Fisher's theory of dominance. Proc Natl Acad Sci U S A. 1991 Dec 15;88(24):11413–11415. [PMC free article] [PubMed]
  • Charlesworth B. Evolution. When to be diploid. Nature. 1991 May 23;351(6324):273–274. [PubMed]
  • Kondrashov AS, Crow JF. Haploidy or diploidy: which is better? Nature. 1991 May 23;351(6324):314–315. [PubMed]
  • Perrot V, Richerd S, Valéro M. Transition from haploidy to diploidy. Nature. 1991 May 23;351(6324):315–317. [PubMed]
  • Kacser H, Burns JA. The molecular basis of dominance. Genetics. 1981 Mar-Apr;97(3-4):639–666. [PMC free article] [PubMed]
  • Hodgkin J, Papp A, Pulak R, Ambros V, Anderson P. A new kind of informational suppression in the nematode Caenorhabditis elegans. Genetics. 1989 Oct;123(2):301–313. [PMC free article] [PubMed]
  • Hodgkin J. Fluxes, doses and poisons: molecular perspectives on dominance. Trends Genet. 1993 Jan;9(1):1–2. [PubMed]
  • Li E, Sucov HM, Lee KF, Evans RM, Jaenisch R. Normal development and growth of mice carrying a targeted disruption of the alpha 1 retinoic acid receptor gene. Proc Natl Acad Sci U S A. 1993 Feb 15;90(4):1590–1594. [PMC free article] [PubMed]
  • Park EC, Horvitz HR. Mutations with dominant effects on the behavior and morphology of the nematode Caenorhabditis elegans. Genetics. 1986 Aug;113(4):821–852. [PMC free article] [PubMed]
  • Carlson EA. Defining the gene: an evolving concept. Am J Hum Genet. 1991 Aug;49(2):475–487. [PMC free article] [PubMed]
  • Lindsley DL, Sandler L, Baker BS, Carpenter AT, Denell RE, Hall JC, Jacobs PA, Miklos GL, Davis BK, Gethmann RC, et al. Segmental aneuploidy and the genetic gross structure of the Drosophila genome. Genetics. 1972 May;71(1):157–184. [PMC free article] [PubMed]
  • Ingham P, Smith J. Crossing the threshold. Curr Biol. 1992 Sep;2(9):465–467. [PubMed]
  • 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 Sep;51(3):508–515. [PMC free article] [PubMed]
  • 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 Oct;9(2):195–203. [PubMed]
  • Lachmann PJ, Rosen FS. The catabolism of C1(-)-inhibitor and the pathogenesis of hereditary angio-edema. Acta Pathol Microbiol Immunol Scand Suppl. 1984;284:35–39. [PubMed]
  • Tassabehji M, Read AP, Newton VE, Patton M, Gruss P, Harris R, Strachan T. Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2. Nat Genet. 1993 Jan;3(1):26–30. [PubMed]
  • Gruss P, Walther C. Pax in development. Cell. 1992 May 29;69(5):719–722. [PubMed]
  • Glaser T, Walton DS, Maas RL. Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene. Nat Genet. 1992 Nov;2(3):232–239. [PubMed]
  • Vortkamp A, Gessler M, Grzeschik KH. GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families. Nature. 1991 Aug 8;352(6335):539–540. [PubMed]
  • Schimmang T, Lemaistre M, Vortkamp A, Rüther U. Expression of the zinc finger gene Gli3 is affected in the morphogenetic mouse mutant extra-toes (Xt). Development. 1992 Nov;116(3):799–804. [PubMed]
  • 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 Aug;1(5):293–295. [PubMed]
  • McInnes RR, Bascom RA. Retinal genetics: a nullifying effect for rhodopsin. Nat Genet. 1992 Jun;1(3):155–157. [PubMed]
  • 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 Nov;51(5):1058–1065. [PMC free article] [PubMed]
  • 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 Sep 18;70(6):911–922. [PubMed]
  • Isoda K, Roth S, Nüsslein-Volhard C. The functional domains of the Drosophila morphogen dorsal: evidence from the analysis of mutants. Genes Dev. 1992 Apr;6(4):619–630. [PubMed]
  • Jiang J, Levine M. Binding affinities and cooperative interactions with bHLH activators delimit threshold responses to the dorsal gradient morphogen. Cell. 1993 Mar 12;72(5):741–752. [PubMed]
  • St Johnston D, Nüsslein-Volhard C. The origin of pattern and polarity in the Drosophila embryo. Cell. 1992 Jan 24;68(2):201–219. [PubMed]
  • Holtzman DM, Epstein CJ. The molecular genetics of Down syndrome. Mol Genet Med. 1992;2:105–120. [PubMed]
  • Patel PI, Roa BB, Welcher AA, Schoener-Scott R, Trask BJ, Pentao L, Snipes GJ, Garcia CA, Francke U, Shooter EM, et al. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat Genet. 1992 Jun;1(3):159–165. [PubMed]
  • Chance PF, Alderson MK, Leppig KA, Lensch MW, Matsunami N, Smith B, Swanson PD, Odelberg SJ, Disteche CM, Bird TD. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell. 1993 Jan 15;72(1):143–151. [PubMed]
  • Bishop JM. Molecular themes in oncogenesis. Cell. 1991 Jan 25;64(2):235–248. [PubMed]
  • Oliner JD, Kinzler KW, Meltzer PS, George DL, Vogelstein B. Amplification of a gene encoding a p53-associated protein in human sarcomas. Nature. 1992 Jul 2;358(6381):80–83. [PubMed]
  • Ruvkun G, Wightman B, Bürglin 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 pattern-formation genes. Dev Suppl. 1991;1:47–54. [PubMed]
  • 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 beta-globin gene cluster. Blood. 1989 Nov 1;74(6):2178–2186. [PubMed]
  • Schneuwly S, Kuroiwa A, Gehring WJ. Molecular analysis of the dominant homeotic Antennapedia phenotype. EMBO J. 1987 Jan;6(1):201–206. [PMC free article] [PubMed]
  • Cleary ML. Oncogenic conversion of transcription factors by chromosomal translocations. Cell. 1991 Aug 23;66(4):619–622. [PubMed]
  • Rabbitts TH. Translocations, master genes, and differences between the origins of acute and chronic leukemias. Cell. 1991 Nov 15;67(4):641–644. [PubMed]
  • Trent C, Wood WB, Horvitz HR. A novel dominant transformer allele of the sex-determining gene her-1 of Caenorhabditis elegans. Genetics. 1988 Sep;120(1):145–157. [PMC free article] [PubMed]
  • Miller MW, Duhl DM, Vrieling H, Cordes SP, Ollmann MM, Winkes BM, Barsh GS. Cloning of the mouse agouti gene predicts a secreted protein ubiquitously expressed in mice carrying the lethal yellow mutation. Genes Dev. 1993 Mar;7(3):454–467. [PubMed]
  • Michaud EJ, Bultman SJ, Stubbs LJ, Woychik RP. The embryonic lethality of homozygous lethal yellow mice (Ay/Ay) is associated with the disruption of a novel RNA-binding protein. Genes Dev. 1993 Jul;7(7A):1203–1213. [PubMed]
  • Bruening W, Bardeesy N, Silverman BL, Cohn RA, Machin GA, Aronson AJ, Housman D, Pelletier J. Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development. Nat Genet. 1992 May;1(2):144–148. [PubMed]
  • 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 wt1 gene transcript. Science. 1992 Jul 10;257(5067):235–237. [PubMed]
  • Rogers S, Wells R, Rechsteiner M. Amino acid sequences common to rapidly degraded proteins: the PEST hypothesis. Science. 1986 Oct 17;234(4774):364–368. [PubMed]
  • Reed SI. G1-specific cyclins: in search of an S-phase-promoting factor. Trends Genet. 1991 Mar;7(3):95–99. [PubMed]
  • Bourne HR, Sanders DA, McCormick F. The GTPase superfamily: conserved structure and molecular mechanism. Nature. 1991 Jan 10;349(6305):117–127. [PubMed]
  • Beitel GJ, Clark SG, Horvitz HR. Caenorhabditis elegans ras gene let-60 acts as a switch in the pathway of vulval induction. Nature. 1990 Dec 6;348(6301):503–509. [PubMed]
  • Han M, Sternberg PW. Analysis of dominant-negative mutations of the Caenorhabditis elegans let-60 ras gene. Genes Dev. 1991 Dec;5(12A):2188–2198. [PubMed]
  • Schneider DS, Hudson KL, Lin TY, Anderson KV. Dominant and recessive mutations define functional domains of Toll, a transmembrane protein required for dorsal-ventral polarity in the Drosophila embryo. Genes Dev. 1991 May;5(5):797–807. [PubMed]
  • Vogelstein B. Cancer. A deadly inheritance. Nature. 1990 Dec 20;348(6303):681–682. [PubMed]
  • Vogelstein B, Kinzler KW. p53 function and dysfunction. Cell. 1992 Aug 21;70(4):523–526. [PubMed]
  • Milner J, Medcalf EA. Cotranslation of activated mutant p53 with wild type drives the wild-type p53 protein into the mutant conformation. Cell. 1991 May 31;65(5):765–774. [PubMed]
  • Weinstein LS, Shenker A, Gejman PV, Merino MJ, Friedman E, Spiegel AM. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med. 1991 Dec 12;325(24):1688–1695. [PubMed]
  • Schwindinger WF, Francomano CA, Levine MA. Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome. Proc Natl Acad Sci U S A. 1992 Jun 1;89(11):5152–5156. [PMC free article] [PubMed]
  • Ptácek LJ, George AL, Jr, Griggs RC, Tawil R, Kallen RG, Barchi RL, Robertson M, Leppert MF. Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell. 1991 Nov 29;67(5):1021–1027. [PubMed]
  • Rojas CV, Wang JZ, Schwartz LS, Hoffman EP, Powell BR, Brown RH., Jr A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis. Nature. 1991 Dec 5;354(6352):387–389. [PubMed]
  • McClatchey AI, Van den Bergh P, Pericak-Vance MA, Raskind W, Verellen C, McKenna-Yasek D, Rao K, Haines JL, Bird T, Brown RH, Jr, et al. Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. Cell. 1992 Feb 21;68(4):769–774. [PubMed]
  • Valentijn LJ, Baas F, Wolterman RA, Hoogendijk JE, van den Bosch NH, Zorn I, Gabreëls-Festen AW, de Visser M, Bolhuis PA. Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. Nat Genet. 1992 Dec;2(4):288–291. [PubMed]
  • 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 Nov 20;51(4):539–548. [PubMed]
  • 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 Mar;4(3):464–475. [PubMed]
  • Herskowitz I. Functional inactivation of genes by dominant negative mutations. Nature. 1987 Sep 17;329(6136):219–222. [PubMed]
  • Amaya E, Musci TJ, Kirschner MW. Expression of a dominant negative mutant of the FGF receptor disrupts mesoderm formation in Xenopus embryos. Cell. 1991 Jul 26;66(2):257–270. [PubMed]
  • Leone G, Maybaum L, Lee PW. The reovirus cell attachment protein possesses two independently active trimerization domains: basis of dominant negative effects. Cell. 1992 Oct 30;71(3):479–488. [PubMed]
  • 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 Apr 6;61(1):49–59. [PubMed]
  • 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 Mar;7(3):479–490. [PubMed]
  • Harada H, Fujita T, Miyamoto M, Kimura Y, Maruyama M, Furia A, Miyata T, Taniguchi T. 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 Aug 25;58(4):729–739. [PubMed]
  • Sykes B. Human genetics. Bone disease cracks genetics. Nature. 1990 Nov 1;348(6296):18–20. [PubMed]
  • Byers PH, Wallis GA, Willing MC. Osteogenesis imperfecta: translation of mutation to phenotype. J Med Genet. 1991 Jul;28(7):433–442. [PMC free article] [PubMed]
  • Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, Puffenberger EG, Hamosh A, Nanthakumar EJ, Curristin SM, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature. 1991 Jul 25;352(6333):337–339. [PubMed]
  • Milewicz DM, 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 Jan;89(1):79–86. [PMC free article] [PubMed]
  • Bejsovec A, Anderson P. Functions of the myosin ATP and actin binding sites are required for C. elegans thick filament assembly. Cell. 1990 Jan 12;60(1):133–140. [PubMed]
  • Watkins H, Rosenzweig A, Hwang DS, Levi T, McKenna W, Seidman CE, Seidman JG. Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med. 1992 Apr 23;326(17):1108–1114. [PubMed]
  • Fuchs E, Coulombe PA. Of mice and men: genetic skin diseases of keratin. Cell. 1992 Jun 12;69(6):899–902. [PubMed]
  • Monplaisir N, Merault G, Poyart C, Rhoda MD, Craescu C, Vidaud M, Galacteros F, Blouquit Y, Rosa J. Hemoglobin S Antilles: a variant with lower solubility than hemoglobin S and producing sickle cell disease in heterozygotes. Proc Natl Acad Sci U S A. 1986 Dec;83(24):9363–9367. [PMC free article] [PubMed]
  • 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 Feb 14;349(6310):588–593. [PubMed]
  • Johnson R, Jackson IJ. Light is a dominant mouse mutation resulting in premature cell death. Nat Genet. 1992 Jun;1(3):226–229. [PubMed]
  • Citron M, Oltersdorf T, Haass C, McConlogue L, Hung AY, Seubert P, Vigo-Pelfrey C, Lieberburg I, Selkoe DJ. Mutation of the beta-amyloid precursor protein in familial Alzheimer's disease increases beta-protein production. Nature. 1992 Dec 17;360(6405):672–674. [PubMed]
  • Benson MD, Liepnieks J, Uemichi T, Wheeler G, Correa R. Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain. Nat Genet. 1993 Mar;3(3):252–255. [PubMed]
  • Pepys MB, Hawkins PN, Booth DR, Vigushin DM, Tennent GA, Soutar AK, Totty N, Nguyen O, Blake CC, Terry CJ, et al. Human lysozyme gene mutations cause hereditary systemic amyloidosis. Nature. 1993 Apr 8;362(6420):553–557. [PubMed]
  • Fersht A, Winter G. Protein engineering. Trends Biochem Sci. 1992 Aug;17(8):292–295. [PubMed]
  • Owen MC, Brennan SO, Lewis JH, Carrell RW. Mutation of antitrypsin to antithrombin. alpha 1-antitrypsin Pittsburgh (358 Met leads to Arg), a fatal bleeding disorder. N Engl J Med. 1983 Sep 22;309(12):694–698. [PubMed]
  • Kurzrock R, Gutterman JU, Talpaz M. The molecular genetics of Philadelphia chromosome-positive leukemias. N Engl J Med. 1988 Oct 13;319(15):990–998. [PubMed]
  • 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. Nat Genet. 1993 Feb;3(2):113–117. [PubMed]
  • Dreesen TD, Henikoff S, Loughney K. A pairing-sensitive element that mediates trans-inactivation is associated with the Drosophila brown gene. Genes Dev. 1991 Mar;5(3):331–340. [PubMed]
  • Tartof KD, Henikoff S. Trans-sensing effects from Drosophila to humans. Cell. 1991 Apr 19;65(2):201–203. [PubMed]
  • Lyttle TW. Cheaters sometimes prosper: distortion of mendelian segregation by meiotic drive. Trends Genet. 1993 Jun;9(6):205–210. [PubMed]
  • Hays TS, Deuring R, Robertson B, Prout M, Fuller MT. Interacting proteins identified by genetic interactions: a missense mutation in alpha-tubulin fails to complement alleles of the testis-specific beta-tubulin gene of Drosophila melanogaster. Mol Cell Biol. 1989 Mar;9(3):875–884. [PMC free article] [PubMed]
  • Beggs AH, Neumann PE, Arahata K, Arikawa E, Nonaka I, Anderson MS, Kunkel LM. Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy. Proc Natl Acad Sci U S A. 1992 Jan 15;89(2):623–627. [PMC free article] [PubMed]
  • Johnson WG. Metabolic interference and the + - heterozygote. a hypothetical form of simple inheritance which is neither dominant nor recessive. Am J Hum Genet. 1980 May;32(3):374–386. [PMC free article] [PubMed]
  • Knudson AG., Jr Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci U S A. 1971 Apr;68(4):820–823. [PMC free article] [PubMed]
  • Cavenee WK, Dryja TP, Phillips RA, Benedict WF, Godbout R, Gallie BL, Murphree AL, Strong LC, White RL. Expression of recessive alleles by chromosomal mechanisms in retinoblastoma. Nature. 305(5937):779–784. [PubMed]
  • DeChiara TM, Robertson EJ, Efstratiadis A. Parental imprinting of the mouse insulin-like growth factor II gene. Cell. 1991 Feb 22;64(4):849–859. [PubMed]
  • Heutink P, van der Mey AG, Sandkuijl LA, van Gils AP, Bardoel A, Breedveld GJ, van Vliet M, van Ommen GJ, Cornelisse CJ, Oostra BA, et al. A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter. Hum Mol Genet. 1992 Apr;1(1):7–10. [PubMed]
  • Tommerup N. Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders. J Med Genet. 1993 Sep;30(9):713–727. [PMC free article] [PubMed]
  • Bourne HR. Colon cancer. Consider the coiled coil.... Nature. 1991 May 16;351(6323):188–190. [PubMed]
  • Bourne HR. Colon cancer. Suppression with a difference. Nature. 1991 Oct 24;353(6346):696–697. [PubMed]
  • Miyoshi Y, Ando H, Nagase H, Nishisho I, Horii A, Miki Y, Mori T, Utsunomiya J, Baba S, Petersen G, et al. Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. Proc Natl Acad Sci U S A. 1992 May 15;89(10):4452–4456. [PMC free article] [PubMed]
  • Powell SM, Zilz N, Beazer-Barclay Y, Bryan TM, Hamilton SR, Thibodeau SN, Vogelstein B, Kinzler KW. APC mutations occur early during colorectal tumorigenesis. Nature. 1992 Sep 17;359(6392):235–237. [PubMed]
  • Pieretti M, Zhang FP, Fu YH, Warren ST, Oostra BA, Caskey CT, Nelson DL. Absence of expression of the FMR-1 gene in fragile X syndrome. Cell. 1991 Aug 23;66(4):817–822. [PubMed]
  • Sabouri LA, Mahadevan MS, Narang M, Lee DS, Surh LC, Korneluk RG. Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene. Nat Genet. 1993 Jul;4(3):233–238. [PubMed]
  • Fu YH, Friedman DL, Richards S, Pearlman JA, Gibbs RA, Pizzuti A, Ashizawa T, Perryman MB, Scarlato G, Fenwick RG, Jr, et al. Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy. Science. 1993 Apr 9;260(5105):235–238. [PubMed]
  • Hofmann-Radvanyi H, Lavedan C, Rabès JP, Savoy D, Duros C, Johnson K, Junien C. Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele. Hum Mol Genet. 1993 Aug;2(8):1263–1266. [PubMed]
  • Mandel JL. Questions of expansion. Nat Genet. 1993 May;4(1):8–9. [PubMed]
  • Miller AD. Human gene therapy comes of age. Nature. 1992 Jun 11;357(6378):455–460. [PubMed]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Group


Related citations in PubMed

See reviews...See all...

Cited by other articles in PMC

See all...


  • Cited in Books
    Cited in Books
    PubMed Central articles cited in books
  • ClinVar
    Links to ClinVar
  • OMIM
    OMIM record citing PubMed
  • PubMed
    PubMed citations for these articles
  • SNP
    PMC to SNP links

Recent Activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...