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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Gene Dosage

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Disease relevance of Gene Dosage


Psychiatry related information on Gene Dosage


High impact information on Gene Dosage


Chemical compound and disease context of Gene Dosage


Biological context of Gene Dosage

  • These data support the hypothesis that the CMT1A phenotype can result from a gene dosage effect [20].
  • In an attempt to establish the mechanisms responsible for such balanced synthesis we have altered the gene dosage for one of the components by introducing into yeast an autonomously replicating plasmid containing the gene tcm1, which codes for ribosomal protein L3 [21].
  • When two to six copies of a white promoter-Alcohol dehydrogenase (Adh) reporter fusion gene are introduced into the genome, the expression is progressively reduced both in larvae and adults rather than the expected gene dosage effect [22].
  • The results of gene dosage, complementation, and temperature-shift experiments indicate that the fates expressed by cells at successive stages of these cell lineages are specified by the level of lin-14 activity and that lin-14 acts at multiple times during development to control stage-specific choices of cell fate [23].
  • We then studied heterozygotes containing one characterized and one uncharacterized AH with particular attention to the gene copy number at the C4, Cyp21, and DRB loci [24].

Anatomical context of Gene Dosage


Associations of Gene Dosage with chemical compounds

  • DHFR gene copy numbers per cell in clones resistant to 100, 200 and 300 nM methotrexate are approximately 3, 10 and 16 times higher, respectively, than the DHFR gene copy number in the parental 3T6 cells [30].
  • Initially we analyzed examples of known gene copy number at the C4 and 21 hydroxylase loci and showed that the approach provides predictable results [24].
  • The contributions of these loci are additive, but gene dosage effects at the C5 locus are such that it largely dominates [31].
  • Glycogen synthase is almost entirely in the active, glucose 6-phosphate-independent, form in cells with increased gene dosage of GAC1 whereas the enzyme is mostly in the inactive form in strains lacking GAC1 [32].
  • The chloroquine-resistant cloned line FAC8 however, does express approximately threefold more Pgh1 protein than other isolates which is most likely because of the increased pfmdr1 gene copy number present in this isolate [33].

Gene context of Gene Dosage

  • Thus, we suggest that a gene dosage effect involving PMP-22 is at least partially responsible for the demyelinating neuropathy seen in CMT1A [34].
  • Gene dosage studies suggest that a high level of lin-12 activity specifies one cell fate and a low level specifies an alternative fate [35].
  • The level of H2A plus H2B protein in the cell may signal the response to histone gene copy number, suggesting that transcription of the HTA1-HTB1 locus can be autogenously regulated [36].
  • Sir2p is a limiting component in promoting yeast longevity, and increasing the gene dosage extends the life span in wild-type cells [37].
  • Gene dosage studies among ventrolateral genes suggest that the rho product (Rho) may facilitate Spi-EGF-R signaling, resulting in activation of RAS [38].

Analytical, diagnostic and therapeutic context of Gene Dosage


  1. Down's syndrome: abnormal neuromuscular junction in tongue of transgenic mice with elevated levels of human Cu/Zn-superoxide dismutase. Avraham, K.B., Schickler, M., Sapoznikov, D., Yarom, R., Groner, Y. Cell (1988) [Pubmed]
  2. Essential function of Gli2 and Gli3 in the formation of lung, trachea and oesophagus. Motoyama, J., Liu, J., Mo, R., Ding, Q., Post, M., Hui, C.C. Nat. Genet. (1998) [Pubmed]
  3. RNase E autoregulates its synthesis by controlling the degradation rate of its own mRNA in Escherichia coli: unusual sensitivity of the rne transcript to RNase E activity. Jain, C., Belasco, J.G. Genes Dev. (1995) [Pubmed]
  4. Accumulation of protoporphyrin IX from delta-aminolevulinic acid in bovine skin fibroblasts with hereditary erythropoietic protoporphyria. A gene-dosage effect. Sassa, S., Schwartz, S., Ruth, G. J. Exp. Med. (1981) [Pubmed]
  5. Genetic staging of unresectable or metastatic neuroblastoma in infants: a Pediatric Oncology Group study. Bowman, L.C., Castleberry, R.P., Cantor, A., Joshi, V., Cohn, S.L., Smith, E.I., Yu, A., Brodeur, G.M., Hayes, F.A., Look, A.T. J. Natl. Cancer Inst. (1997) [Pubmed]
  6. Locomotor activity in D2 dopamine receptor-deficient mice is determined by gene dosage, genetic background, and developmental adaptations. Kelly, M.A., Rubinstein, M., Phillips, T.J., Lessov, C.N., Burkhart-Kasch, S., Zhang, G., Bunzow, J.R., Fang, Y., Gerhardt, G.A., Grandy, D.K., Low, M.J. J. Neurosci. (1998) [Pubmed]
  7. S100 protein and Down syndrome. Marks, A., Allore, R. Bioessays (1990) [Pubmed]
  8. Deficits in memory tasks of mice with CREB mutations depend on gene dosage. Gass, P., Wolfer, D.P., Balschun, D., Rudolph, D., Frey, U., Lipp, H.P., Schütz, G. Learn. Mem. (1998) [Pubmed]
  9. App gene dosage modulates endosomal abnormalities of Alzheimer's disease in a segmental trisomy 16 mouse model of down syndrome. Cataldo, A.M., Petanceska, S., Peterhoff, C.M., Terio, N.B., Epstein, C.J., Villar, A., Carlson, E.J., Staufenbiel, M., Nixon, R.A. J. Neurosci. (2003) [Pubmed]
  10. Plk4 haploinsufficiency causes mitotic infidelity and carcinogenesis. Ko, M.A., Rosario, C.O., Hudson, J.W., Kulkarni, S., Pollett, A., Dennis, J.W., Swallow, C.J. Nat. Genet. (2005) [Pubmed]
  11. A Rad53 kinase-dependent surveillance mechanism that regulates histone protein levels in S. cerevisiae. Gunjan, A., Verreault, A. Cell (2003) [Pubmed]
  12. JunB can substitute for Jun in mouse development and cell proliferation. Passegué, E., Jochum, W., Behrens, A., Ricci, R., Wagner, E.F. Nat. Genet. (2002) [Pubmed]
  13. BAC-mediated gene-dosage analysis reveals a role for Zipro1 (Ru49/Zfp38) in progenitor cell proliferation in cerebellum and skin. Yang, X.W., Wynder, C., Doughty, M.L., Heintz, N. Nat. Genet. (1999) [Pubmed]
  14. Gene dosage-dependent embryonic development and proliferation defects in mice lacking the transcriptional integrator p300. Yao, T.P., Oh, S.P., Fuchs, M., Zhou, N.D., Ch'ng, L.E., Newsome, D., Bronson, R.T., Li, E., Livingston, D.M., Eckner, R. Cell (1998) [Pubmed]
  15. Determining the one, two, three, or four long and short loci of human complement C4 in a major histocompatibility complex haplotype encoding C4A or C4B proteins. Chung, E.K., Yang, Y., Rupert, K.L., Jones, K.N., Rennebohm, R.M., Blanchong, C.A., Yu, C.Y. Am. J. Hum. Genet. (2002) [Pubmed]
  16. The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism. Hedrich, K., Kann, M., Lanthaler, A.J., Dalski, A., Eskelson, C., Landt, O., Schwinger, E., Vieregge, P., Lang, A.E., Breakefield, X.O., Ozelius, L.J., Pramstaller, P.P., Klein, C. Hum. Mol. Genet. (2001) [Pubmed]
  17. Control of rRNA synthesis in Escherichia coli at increased rrn gene dosage. Role of guanosine tetraphosphate and ribosome feedback. Baracchini, E., Bremer, H. J. Biol. Chem. (1991) [Pubmed]
  18. Histidine operon deattenuation in dnaA mutants of Salmonella typhimurium correlates with a decrease in the gene dosage ratio between tRNA(His) and histidine biosynthetic loci. Blanc-Potard, A.B., Figueroa-Bossi, N., Bossi, L. J. Bacteriol. (1999) [Pubmed]
  19. pfmdr1 genotyping and in vivo mefloquine resistance on the Thai-Myanmar border. Nelson, A.L., Purfield, A., McDaniel, P., Uthaimongkol, N., Buathong, N., Sriwichai, S., Miller, R.S., Wongsrichanalai, C., Meshnick, S.R. Am. J. Trop. Med. Hyg. (2005) [Pubmed]
  20. Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. Lupski, J.R., Wise, C.A., Kuwano, A., Pentao, L., Parke, J.T., Glaze, D.G., Ledbetter, D.H., Greenberg, F., Patel, P.I. Nat. Genet. (1992) [Pubmed]
  21. Yeast use translational control to compensate for extra copies of a ribosomal protein gene. Pearson, N.J., Fried, H.M., Warner, J.R. Cell (1982) [Pubmed]
  22. Cosuppression in Drosophila: gene silencing of Alcohol dehydrogenase by white-Adh transgenes is Polycomb dependent. Pal-Bhadra, M., Bhadra, U., Birchler, J.A. Cell (1997) [Pubmed]
  23. The lin-14 locus of Caenorhabditis elegans controls the time of expression of specific postembryonic developmental events. Ambros, V., Horvitz, H.R. Genes Dev. (1987) [Pubmed]
  24. Differences in gene copy number carried by different MHC ancestral haplotypes. Quantitation after physical separation of haplotypes by pulsed field gel electrophoresis. Zhang, W.J., Degli-Esposti, M.A., Cobain, T.J., Cameron, P.U., Christiansen, F.T., Dawkins, R.L. J. Exp. Med. (1990) [Pubmed]
  25. Haploinsufficient lethality and formation of arteriovenous malformations in Notch pathway mutants. Krebs, L.T., Shutter, J.R., Tanigaki, K., Honjo, T., Stark, K.L., Gridley, T. Genes Dev. (2004) [Pubmed]
  26. Elevated epidermal growth factor receptor gene copy number and expression in a squamous carcinoma cell line. Merlino, G.T., Xu, Y.H., Richert, N., Clark, A.J., Ishii, S., Banks-Schlegel, S., Pastan, I. J. Clin. Invest. (1985) [Pubmed]
  27. Relation between JAK2 (V617F) mutation status, granulocyte activation, and constitutive mobilization of CD34+ cells into peripheral blood in myeloproliferative disorders. Passamonti, F., Rumi, E., Pietra, D., Della Porta, M.G., Boveri, E., Pascutto, C., Vanelli, L., Arcaini, L., Burcheri, S., Malcovati, L., Lazzarino, M., Cazzola, M. Blood (2006) [Pubmed]
  28. Favorable biology and outcome of stage IV-S neuroblastoma with supportive care or minimal therapy: a Children's Cancer Group study. Nickerson, H.J., Matthay, K.K., Seeger, R.C., Brodeur, G.M., Shimada, H., Perez, C., Atkinson, J.B., Selch, M., Gerbing, R.B., Stram, D.O., Lukens, J. J. Clin. Oncol. (2000) [Pubmed]
  29. Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A. Yoshikawa, H., Nishimura, T., Nakatsuji, Y., Fujimura, H., Himoro, M., Hayasaka, K., Sakoda, S., Yanagihara, T. Ann. Neurol. (1994) [Pubmed]
  30. Phorbol ester dramatically increases incidence of methotrexate-resistant mouse cells: possible mechanisms and relevance to tumor promotion. Varshavsky, A. Cell (1981) [Pubmed]
  31. Genetic influences on the end-stage effector phase of arthritis. Ji, H., Gauguier, D., Ohmura, K., Gonzalez, A., Duchatelle, V., Danoy, P., Garchon, H.J., Degott, C., Lathrop, M., Benoist, C., Mathis, D. J. Exp. Med. (2001) [Pubmed]
  32. GAC1 may encode a regulatory subunit for protein phosphatase type 1 in Saccharomyces cerevisiae. François, J.M., Thompson-Jaeger, S., Skroch, J., Zellenka, U., Spevak, W., Tatchell, K. EMBO J. (1992) [Pubmed]
  33. A P-glycoprotein homologue of Plasmodium falciparum is localized on the digestive vacuole. Cowman, A.F., Karcz, S., Galatis, D., Culvenor, J.G. J. Cell Biol. (1991) [Pubmed]
  34. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Patel, P.I., Roa, B.B., Welcher, A.A., Schoener-Scott, R., Trask, B.J., Pentao, L., Snipes, G.J., Garcia, C.A., Francke, U., Shooter, E.M., Lupski, J.R., Suter, U. Nat. Genet. (1992) [Pubmed]
  35. The lin-12 locus specifies cell fates in Caenorhabditis elegans. Greenwald, I.S., Sternberg, P.W., Horvitz, H.R. Cell (1983) [Pubmed]
  36. A yeast H2A-H2B promoter can be regulated by changes in histone gene copy number. Moran, L., Norris, D., Osley, M.A. Genes Dev. (1990) [Pubmed]
  37. The SIR2/3/4 complex and SIR2 alone promote longevity in Saccharomyces cerevisiae by two different mechanisms. Kaeberlein, M., McVey, M., Guarente, L. Genes Dev. (1999) [Pubmed]
  38. The Drosophila rhomboid gene mediates the localized formation of wing veins and interacts genetically with components of the EGF-R signaling pathway. Sturtevant, M.A., Roark, M., Bier, E. Genes Dev. (1993) [Pubmed]
  39. Identification of subsets of neuroblastomas by combined histopathologic and N-myc analysis. Shimada, H., Stram, D.O., Chatten, J., Joshi, V.V., Hachitanda, Y., Brodeur, G.M., Lukens, J.N., Matthay, K.K., Seeger, R.C. J. Natl. Cancer Inst. (1995) [Pubmed]
  40. A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR. Inoue, K., Osaka, H., Sugiyama, N., Kawanishi, C., Onishi, H., Nezu, A., Kimura, K., Yamada, Y., Kosaka, K. Am. J. Hum. Genet. (1996) [Pubmed]
  41. Characterization of the human lysyl oxidase gene locus. Svinarich, D.M., Twomey, T.A., Macauley, S.P., Krebs, C.J., Yang, T.P., Krawetz, S.A. J. Biol. Chem. (1992) [Pubmed]
  42. Diversity in intrinsic strengths of the human complement system: serum C4 protein concentrations correlate with C4 gene size and polygenic variations, hemolytic activities, and body mass index. Yang, Y., Chung, E.K., Zhou, B., Blanchong, C.A., Yu, C.Y., Füst, G., Kovács, M., Vatay, A., Szalai, C., Karádi, I., Varga, L. J. Immunol. (2003) [Pubmed]
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