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. 1996 Jan;58(1):21–27.

Chromosomal duplications in bacteria, fruit flies, and humans.

J R Lupski 1, J R Roth 1, G M Weinstock 1
PMCID: PMC1914933  PMID: 8554058

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Selected References

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  1. Abstracts of papers presented at the 1980 meetings of the Genetic Society of America. Boulder, Colorado August 18-20, 1980. Genetics. 1980;94(4 Pt 2 Suppl):1–16. [PMC free article] [PubMed] [Google Scholar]
  2. Anderson R. P., Miller C. G., Roth J. R. Tandem duplications of the histidine operon observed following generalized transduction in Salmonella typhimurium. J Mol Biol. 1976 Aug 5;105(2):201–218. doi: 10.1016/0022-2836(76)90107-8. [DOI] [PubMed] [Google Scholar]
  3. Anderson R. P., Roth J. R. Tandem genetic duplications in phage and bacteria. Annu Rev Microbiol. 1977;31:473–505. doi: 10.1146/annurev.mi.31.100177.002353. [DOI] [PubMed] [Google Scholar]
  4. BAGLIONI C. The fusion of two peptide chains in hemoglobin Lepore and its interpretation as a genetic deletion. Proc Natl Acad Sci U S A. 1962 Nov 15;48:1880–1886. doi: 10.1073/pnas.48.11.1880. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Ballabio A., Bardoni B., Guioli S., Basler E., Camerino G. Two families of low-copy-number repeats are interspersed on Xp22.3: implications for the high frequency of deletions in this region. Genomics. 1990 Oct;8(2):263–270. doi: 10.1016/0888-7543(90)90281-x. [DOI] [PubMed] [Google Scholar]
  6. Bridges C. B. THE BAR "GENE" A DUPLICATION. Science. 1936 Feb 28;83(2148):210–211. doi: 10.1126/science.83.2148.210. [DOI] [PubMed] [Google Scholar]
  7. CAMPBELL A. Segregants from lysogenic heterogenotes carrying recombinant lambda prophages. Virology. 1963 Jun;20:344–356. doi: 10.1016/0042-6822(63)90124-7. [DOI] [PubMed] [Google Scholar]
  8. Chance P. F., Abbas N., Lensch M. W., Pentao L., Roa B. B., Patel P. I., Lupski J. R. Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum Mol Genet. 1994 Feb;3(2):223–228. doi: 10.1093/hmg/3.2.223. [DOI] [PubMed] [Google Scholar]
  9. Chance P. F., Alderson M. K., Leppig K. A., Lensch M. W., Matsunami N., Smith B., Swanson P. D., Odelberg S. J., Disteche C. M., Bird T. D. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell. 1993 Jan 15;72(1):143–151. doi: 10.1016/0092-8674(93)90058-x. [DOI] [PubMed] [Google Scholar]
  10. Chance P. F., Bird T. D., Matsunami N., Lensch M. W., Brothman A. R., Feldman G. M. Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: evidence for gene dosage as a mechanism in CMT1A. Neurology. 1992 Dec;42(12):2295–2299. doi: 10.1212/wnl.42.12.2295. [DOI] [PubMed] [Google Scholar]
  11. Davis P. S., Shen M. W., Judd B. H. Asymmetrical pairings of transposons in and proximal to the white locus of Drosophila account for four classes of regularly occurring exchange products. Proc Natl Acad Sci U S A. 1987 Jan;84(1):174–178. doi: 10.1073/pnas.84.1.174. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Goldberg M. L., Sheen J. Y., Gehring W. J., Green M. M. Unequal crossing-over associated with asymmetrical synapsis between nomadic elements in the Drosophila melanogaster genome. Proc Natl Acad Sci U S A. 1983 Aug;80(16):5017–5021. doi: 10.1073/pnas.80.16.5017. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Goossens M., Dozy A. M., Embury S. H., Zachariades Z., Hadjiminas M. G., Stamatoyannopoulos G., Kan Y. W. Triplicated alpha-globin loci in humans. Proc Natl Acad Sci U S A. 1980 Jan;77(1):518–521. doi: 10.1073/pnas.77.1.518. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Green M M. Non-Homologous Pairing and Crossing over in Drosophila Melanogaster. Genetics. 1959 Nov;44(6):1243–1256. doi: 10.1093/genetics/44.6.1243. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. HORIUCHI T., HORIUCHI S., NOVICK A. The genetic basis of hyper-synthesis of beta-galactosidase. Genetics. 1963 Feb;48:157–169. doi: 10.1093/genetics/48.2.157. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Heath J. D., Weinstock G. M. Tandem duplications of the lac region of the Escherichia coli chromosome. Biochimie. 1991 Apr;73(4):343–352. doi: 10.1016/0300-9084(91)90099-m. [DOI] [PubMed] [Google Scholar]
  17. Hertz J. M., Børglum A. D., Brandt C. A., Flint T., Bisgaard C. Charcot-Marie-Tooth disease type 1A: the parental origin of a de novo 17p11.2-p12 duplication. Clin Genet. 1994 Oct;46(4):291–294. doi: 10.1111/j.1399-0004.1994.tb04162.x. [DOI] [PubMed] [Google Scholar]
  18. Higashijima S., Kojima T., Michiue T., Ishimaru S., Emori Y., Saigo K. Dual Bar homeo box genes of Drosophila required in two photoreceptor cells, R1 and R6, and primary pigment cells for normal eye development. Genes Dev. 1992 Jan;6(1):50–60. doi: 10.1101/gad.6.1.50. [DOI] [PubMed] [Google Scholar]
  19. Hill C. W., Combriato G. Genetic duplications induced at very high frequency by ultraviolet irradiation in Escherichia coli. Mol Gen Genet. 1973 Dec 31;127(3):197–214. doi: 10.1007/BF00333760. [DOI] [PubMed] [Google Scholar]
  20. Hill C. W., Grafstrom R. H., Harnish B. W., Hillman B. S. Tandem duplications resulting from recombination between ribosomal RNA genes in Escherichia coli. J Mol Biol. 1977 Nov 5;116(3):407–428. doi: 10.1016/0022-2836(77)90077-8. [DOI] [PubMed] [Google Scholar]
  21. Hoogendijk J. E., Hensels G. W., Gabreëls-Festen A. A., Gabreëls F. J., Janssen E. A., de Jonghe P., Martin J. J., van Broeckhoven C., Valentijn L. J., Baas F. De-novo mutation in hereditary motor and sensory neuropathy type I. Lancet. 1992 May 2;339(8801):1081–1082. doi: 10.1016/0140-6736(92)90668-s. [DOI] [PubMed] [Google Scholar]
  22. JUDD B. H. Analysis of products from regularly occurring asymmetrical exchange in Drosophila melanogaster. Genetics. 1961 Dec;46:1687–1697. doi: 10.1093/genetics/46.12.1687. [DOI] [PMC free article] [PubMed] [Google Scholar]
  23. Kojima T., Ishimaru S., Higashijima S., Takayama E., Akimaru H., Sone M., Emori Y., Saigo K. Identification of a different-type homeobox gene, BarH1, possibly causing Bar (B) and Om(1D) mutations in Drosophila. Proc Natl Acad Sci U S A. 1991 May 15;88(10):4343–4347. doi: 10.1073/pnas.88.10.4343. [DOI] [PMC free article] [PubMed] [Google Scholar]
  24. Kojima T., Sone M., Michiue T., Saigo K. Mechanism of induction of Bar-like eye malformation by transient overexpression of Bar homeobox genes in Drosophila melanogaster. Genetica. 1993;88(2-3):85–91. doi: 10.1007/BF02424465. [DOI] [PubMed] [Google Scholar]
  25. Lakich D., Kazazian H. H., Jr, Antonarakis S. E., Gitschier J. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat Genet. 1993 Nov;5(3):236–241. doi: 10.1038/ng1193-236. [DOI] [PubMed] [Google Scholar]
  26. Lifton R. P., Dluhy R. G., Powers M., Rich G. M., Cook S., Ulick S., Lalouel J. M. A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. Nature. 1992 Jan 16;355(6357):262–265. doi: 10.1038/355262a0. [DOI] [PubMed] [Google Scholar]
  27. Lin R. J., Capage M., Hill C. W. A repetitive DNA sequence, rhs, responsible for duplications within the Escherichia coli K-12 chromosome. J Mol Biol. 1984 Jul 25;177(1):1–18. doi: 10.1016/0022-2836(84)90054-8. [DOI] [PubMed] [Google Scholar]
  28. Lorenzetti D., Pareyson D., Sghirlanzoni A., Roa B. B., Abbas N. E., Pandolfo M., Di Donato S., Lupski J. R. A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies. Am J Hum Genet. 1995 Jan;56(1):91–98. [PMC free article] [PubMed] [Google Scholar]
  29. Lupski J. R. An inherited DNA rearrangement and gene dosage effect are responsible for the most common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A. Clin Res. 1992 Dec;40(4):645–652. [PubMed] [Google Scholar]
  30. Lupski J. R., Chance P. F., Garcia C. A. Inherited primary peripheral neuropathies. Molecular genetics and clinical implications of CMT1A and HNPP. JAMA. 1993 Nov 17;270(19):2326–2330. doi: 10.1001/jama.270.19.2326. [DOI] [PubMed] [Google Scholar]
  31. Lupski J. R., Pentao L., Williams L. L., Patel P. I. Stable inheritance of the CMT1A DNA duplication in two patients with CMT1 and NF1. Am J Med Genet. 1993 Jan 1;45(1):92–96. doi: 10.1002/ajmg.1320450122. [DOI] [PubMed] [Google Scholar]
  32. Lupski J. R., Wise C. A., Kuwano A., Pentao L., Parke J. T., Glaze D. G., Ledbetter D. H., Greenberg F., Patel P. I. Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. Nat Genet. 1992 Apr;1(1):29–33. doi: 10.1038/ng0492-29. [DOI] [PubMed] [Google Scholar]
  33. Lupski J. R., de Oca-Luna R. M., Slaugenhaupt S., Pentao L., Guzzetta V., Trask B. J., Saucedo-Cardenas O., Barker D. F., Killian J. M., Garcia C. A. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell. 1991 Jul 26;66(2):219–232. doi: 10.1016/0092-8674(91)90613-4. [DOI] [PubMed] [Google Scholar]
  34. Matise T. C., Chakravarti A., Patel P. I., Lupski J. R., Nelis E., Timmerman V., Van Broeckhoven C., Weeks D. E. Detection of tandem duplications and implications for linkage analysis. Am J Hum Genet. 1994 Jun;54(6):1110–1121. [PMC free article] [PubMed] [Google Scholar]
  35. Matsunami N., Smith B., Ballard L., Lensch M. W., Robertson M., Albertsen H., Hanemann C. O., Müller H. W., Bird T. D., White R. Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. Nat Genet. 1992 Jun;1(3):176–179. doi: 10.1038/ng0692-176. [DOI] [PubMed] [Google Scholar]
  36. Melki J., Lefebvre S., Burglen L., Burlet P., Clermont O., Millasseau P., Reboullet S., Bénichou B., Zeviani M., Le Paslier D. De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science. 1994 Jun 3;264(5164):1474–1477. doi: 10.1126/science.7910982. [DOI] [PubMed] [Google Scholar]
  37. Nathans J. In the eye of the beholder: visual pigments and inherited variation in human vision. Cell. 1994 Aug 12;78(3):357–360. doi: 10.1016/0092-8674(94)90414-6. [DOI] [PubMed] [Google Scholar]
  38. Nathans J., Piantanida T. P., Eddy R. L., Shows T. B., Hogness D. S. Molecular genetics of inherited variation in human color vision. Science. 1986 Apr 11;232(4747):203–210. doi: 10.1126/science.3485310. [DOI] [PubMed] [Google Scholar]
  39. Nicholson G. A., Valentijn L. J., Cherryson A. K., Kennerson M. L., Bragg T. L., DeKroon R. M., Ross D. A., Pollard J. D., McLeod J. G., Bolhuis P. A. A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. Nat Genet. 1994 Mar;6(3):263–266. doi: 10.1038/ng0394-263. [DOI] [PubMed] [Google Scholar]
  40. Palau F., Löfgren A., De Jonghe P., Bort S., Nelis E., Sevilla T., Martin J. J., Vilchez J., Prieto F., Van Broeckhoven C. Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis. Hum Mol Genet. 1993 Dec;2(12):2031–2035. doi: 10.1093/hmg/2.12.2031. [DOI] [PubMed] [Google Scholar]
  41. Patel P. I., Lupski J. R. Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease. Trends Genet. 1994 Apr;10(4):128–133. doi: 10.1016/0168-9525(94)90214-3. [DOI] [PubMed] [Google Scholar]
  42. 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. 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. doi: 10.1038/ng0692-159. [DOI] [PubMed] [Google Scholar]
  43. Pentao L., Wise C. A., Chinault A. C., Patel P. I., Lupski J. R. Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nat Genet. 1992 Dec;2(4):292–300. doi: 10.1038/ng1292-292. [DOI] [PubMed] [Google Scholar]
  44. Petes T. D., Hill C. W. Recombination between repeated genes in microorganisms. Annu Rev Genet. 1988;22:147–168. doi: 10.1146/annurev.ge.22.120188.001051. [DOI] [PubMed] [Google Scholar]
  45. Raeymaekers P., Timmerman V., Nelis E., De Jonghe P., Hoogendijk J. E., Baas F., Barker D. F., Martin J. J., De Visser M., Bolhuis P. A. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. Neuromuscul Disord. 1991;1(2):93–97. doi: 10.1016/0960-8966(91)90055-w. [DOI] [PubMed] [Google Scholar]
  46. Roa B. B., Dyck P. J., Marks H. G., Chance P. F., Lupski J. R. Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nat Genet. 1993 Nov;5(3):269–273. doi: 10.1038/ng1193-269. [DOI] [PubMed] [Google Scholar]
  47. Roa B. B., Garcia C. A., Pentao L., Killian J. M., Trask B. J., Suter U., Snipes G. J., Ortiz-Lopez R., Shooter E. M., Patel P. I. Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. Nat Genet. 1993 Oct;5(2):189–194. doi: 10.1038/ng1093-189. [DOI] [PubMed] [Google Scholar]
  48. Roa B. B., Garcia C. A., Suter U., Kulpa D. A., Wise C. A., Mueller J., Welcher A. A., Snipes G. J., Shooter E. M., Patel P. I. Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene. N Engl J Med. 1993 Jul 8;329(2):96–101. doi: 10.1056/NEJM199307083290205. [DOI] [PubMed] [Google Scholar]
  49. Roa B. B., Lupski J. R. Molecular genetics of Charcot-Marie-Tooth neuropathy. Adv Hum Genet. 1994;22:117–152. doi: 10.1007/978-1-4757-9062-7_3. [DOI] [PubMed] [Google Scholar]
  50. Rossiter J. P., Young M., Kimberland M. L., Hutter P., Ketterling R. P., Gitschier J., Horst J., Morris M. A., Schaid D. J., de Moerloose P. Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells. Hum Mol Genet. 1994 Jul;3(7):1035–1039. doi: 10.1093/hmg/3.7.1035. [DOI] [PubMed] [Google Scholar]
  51. Schmickel R. D. Contiguous gene syndromes: a component of recognizable syndromes. J Pediatr. 1986 Aug;109(2):231–241. doi: 10.1016/s0022-3476(86)80377-8. [DOI] [PubMed] [Google Scholar]
  52. Sonti R. V., Roth J. R. Role of gene duplications in the adaptation of Salmonella typhimurium to growth on limiting carbon sources. Genetics. 1989 Sep;123(1):19–28. doi: 10.1093/genetics/123.1.19. [DOI] [PMC free article] [PubMed] [Google Scholar]
  53. Sturtevant A H. The Effects of Unequal Crossing over at the Bar Locus in Drosophila. Genetics. 1925 Mar;10(2):117–147. doi: 10.1093/genetics/10.2.117. [DOI] [PMC free article] [PubMed] [Google Scholar]
  54. Sutton E. Bar Eye in Drosophila Melanogaster: A Cytological Analysis of Some Mutations and Reverse Mutations. Genetics. 1943 Mar;28(2):97–107. doi: 10.1093/genetics/28.2.97. [DOI] [PMC free article] [PubMed] [Google Scholar]
  55. Timmerman V., Nelis E., Van Hul W., Nieuwenhuijsen B. W., Chen K. L., Wang S., Ben Othman K., Cullen B., Leach R. J., Hanemann C. O. The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nat Genet. 1992 Jun;1(3):171–175. doi: 10.1038/ng0692-171. [DOI] [PubMed] [Google Scholar]
  56. Tsubota S. I., Rosenberg D., Szostak H., Rubin D., Schedl P. The cloning of the Bar region and the B breakpoint in Drosophila melanogaster: evidence for a transposon-induced rearrangement. Genetics. 1989 Aug;122(4):881–890. doi: 10.1093/genetics/122.4.881. [DOI] [PMC free article] [PubMed] [Google Scholar]
  57. Tsubota S. I. Unequal crossing-over within the B duplication of Drosophila melanogaster: a molecular analysis. Genet Res. 1991 Apr;57(2):105–111. doi: 10.1017/s0016672300029165. [DOI] [PubMed] [Google Scholar]
  58. Valentijn L. J., Baas F., Wolterman R. A., Hoogendijk J. E., van den Bosch N. H., Zorn I., Gabreëls-Festen A. W., de Visser M., Bolhuis P. A. 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. doi: 10.1038/ng1292-288. [DOI] [PubMed] [Google Scholar]
  59. Valentijn L. J., Baas F., Zorn I., Hensels G. W., de Visser M., Bolhuis P. A. Alternatively sized duplication in Charcot-Marie-Tooth disease type 1A. Hum Mol Genet. 1993 Dec;2(12):2143–2146. doi: 10.1093/hmg/2.12.2143. [DOI] [PubMed] [Google Scholar]
  60. Valentijn L. J., Bolhuis P. A., Zorn I., Hoogendijk J. E., van den Bosch N., Hensels G. W., Stanton V. P., Jr, Housman D. E., Fischbeck K. H., Ross D. A. The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. Nat Genet. 1992 Jun;1(3):166–170. doi: 10.1038/ng0692-166. [DOI] [PubMed] [Google Scholar]
  61. Wise C. A., Garcia C. A., Davis S. N., Heju Z., Pentao L., Patel P. I., Lupski J. R. Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication. Am J Hum Genet. 1993 Oct;53(4):853–863. [PMC free article] [PubMed] [Google Scholar]

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