Acetylation Is Indispensable for p53 Activation (DOI:10.1016/j.cell.2007.11.037);A DNA Replication Mechanism for Generating Nonrecurrent Rearrangements Associated with Genomic Disorders

Cell

Volumn 131, Issue 7, 2007, Pages 1235-1247

  Lee, Jennifer A ^a   Carvalho, Claudia M B ^a   Lupski, James R ^a,b  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

DNA; HUMDISEASE

Indexed keywords

PROTEOLIPID PROTEIN;

ARTICLE; DNA REPLICATION; DNA TEMPLATE; GENE DELETION; GENE REARRANGEMENT; GENE SEQUENCE; GENE SWITCHING; GENETIC ASSOCIATION; GENETIC DISORDER; HOMOLOGOUS RECOMBINATION; HUMAN; NUCLEOTIDE REPEAT; PELIZAEUS MERZBACHER DISEASE; POINT MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; TANDEM REPEAT;

EID: 37349109667     PISSN: 00928674     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cell.2008.06.005     Document Type: Erratum

References (50)

1. Bacolla A., and Wells R.D. Non-B DNA conformations, genomic rearrangements, and human disease. J. Biol. Chem. 279 (2004) 47411-47414
2. Blanco-Rodríguez J. Deoxyribonucleic acid replication and germ cell apoptosis during spermatogenesis in the rabbit. J. Androl. 23 (2002) 182-187
3. Blanco-Rodríguez J. DNA replication and germ cell apoptosis during spermatogenesis in the cat. J. Androl. 23 (2002) 484-490
4. Cabrejo L., Guyant-Maréchal L., Laquerrière A., Vercelletto M., De La Fournière F., Thomas-Antérion C., Verny C., Letournel F., Pasquier F., Vital A., et al. Phenotype associated with APP duplication in five families. Brain 129 (2006) 2966-2976
5. Chartier-Harlin M.-C., Kachergus J., Roumier C., Mouroux V., Douay X., Lincoln S., Levecque C., Larvor L., Andrieux J., Hulihan M., et al. α-Synuclein locus duplication as a cause of familial Parkinson's disease. Lancet 364 (2004) 1167-1169
6. Chen J.-M., Chuzhanova N., Stenson P.D., Ferec C., and Cooper D.N. Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversions. Hum. Mutat. 26 (2005) 362-373
7. del Gaudio D., Fang P., Scaglia F., Ward P.A., Craigen W.J., Glaze D.G., Neul J.L., Patel A., Lee J.A., Irons M., et al. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet. Med. 8 (2006) 784-792
8. Dumas L., Kim Y.H., Karimpour-Fard A., Cox M., Hopkins J., Pollack J.R., and Sikela J.M. Gene copy number variation spanning 60 million years of human and primate evolution. Genome Res. 17 (2007) 1266-1277
9. Farrer M., Kachergus J., Forno L., Lincoln S., Wang D.S., Hulihan M., Maraganore D., Gwinn-Hardy K., Wszolek Z., Dickson D., and Langston J.W. Comparison of kindreds with parkinsonism and α-synuclein genomic multiplications. Ann. Neurol. 55 (2004) 174-179
10. Goldfless S.J., Morag A.S., Belisle K.A., Sutera Jr. V.A., and Lovett S.T. DNA repeat rearrangements mediated by DnaK-dependent replication fork repair. Mol. Cell 21 (2006) 595-604
11. Gordon A.J.E., and Halliday J.A. Inversions with deletions and duplications. Genetics 140 (1995) 411-414
12. Ibáñez P., Bonnet A.M., Débarges B., Lohmann E., Tison F., Pollak P., Agid Y., Dürr A., and Brice A. Causal relation between α-synuclein gene duplication and familial Parkinson's disease. French Parkinson's Disease Genetics Study Group. Lancet 364 (2004) 1169-1171
13. Inoue K., Osaka H., Imaizumi K., Nezu A., Takanashi J.-i., Arii J., Murayama K., Ono J., Kikawa Y., Mito T., et al. Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations. Ann. Neurol. 45 (1999) 624-632
14. Inoue K., Osaka H., Thurston V.C., Clarke J.T.R., Yoneyama A., Rosenbarker L., Bird T.D., Hodes M.E., Shaffer L.G., and Lupski J.R. Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females. Am. J. Hum. Genet. 71 (2002) 838-853
15. Kent W.J., Sugnet C.W., Furey T.S., Roskin K.M., Pringle T.H., Zahler A.M., and Haussler D. The human genome browser at UCSC. Genome Res. 12 (2002) 996-1006
16. Kosmider B., and Wells R.D. Fragile X repeats are potent inducers of complex, multiple site rearrangements in flanking sequences in Escherichia coli. DNA Repair (Amst.) 6 (2007) 1850-1863
17. Koszul R., Caburet S., Dujon B., and Fischer G. Eucaryotic genome evolution through the spontaneous duplication of large chromosomal segments. EMBO J. 23 (2004) 234-243
18. Lee J.A., and Lupski J.R. Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders. Neuron 52 (2006) 103-121
19. Lee J.A., Inoue K., Cheung S.W., Shaw C.A., Stankiewicz P., and Lupski J.R. Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease. Hum. Mol. Genet. 15 (2006) 2250-2265
20. Lee J.A., Madrid R.E., Sperle K., Ritterson C.M., Hobson G.M., Garbern J., Lupski J.R., and Inoue K. Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect. Ann. Neurol. 59 (2006) 398-403
21. Lupski J.R. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet. 14 (1998) 417-422
22. Lupski J.R. Structural variation in the human genome. N. Engl. J. Med. 356 (2007) 1169-1171
23. Lupski J.R., and Stankiewicz P. Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet. 1 (2005) 627-633
24. In: Lupski J.R., and Stankiewicz P. (Eds). Genomic Disorders: The Genomic Basis of Disease (2006), Humana Press Inc., Totowa, New Jersey
25. Meins M., Lehmann J., Gerresheim F., Herchenbach J., Hagedorn M., Hameister K., and Epplen J.T. Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome. J. Med. Genet. 42 (2005) e12
26. Mimault C., Giraud G., Courtois V., Cailloux F., Boire J.Y., Dastugue B., and Boespflug-Tanguy O. Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain Dysmyelinating Disease. Am. J. Hum. Genet. 65 (1999) 360-369
27. Narayanan V., Mieczkowski P.A., Kim H.-M., Petes T.D., and Lobachev K.S. The pattern of gene amplification is determined by the chromosomal location of hairpin-capped breaks. Cell 125 (2006) 1283-1296
28. Nishioka K., Hayashi S., Farrer M.J., Singleton A.B., Yoshino H., Imai H., Kitami T., Sato K., Kuroda R., Tomiyama H., et al. Clinical heterogeneity of α-synuclein gene duplication in Parkinson's disease. Ann. Neurol. 59 (2006) 298-309
29. Ohno S. Evolution by gene duplication (1970), Springer Verlag, New York, NY
30. Ohshima A., Inouye S., and Inouye M. In vivo duplication of genetic elements by the formation of stem-loop DNA without an RNA intermediate. Proc. Natl. Acad. Sci. USA 89 (1992) 1016-1020
31. Padiath Q.S., Saigoh K., Schiffman R., Asahara H., Yamada T., Koeppen A., Hogan K., Ptãcek L.J., and Fu Y.H. Lamin B1 duplications cause autosomal dominant leukodystrophy. Nat. Genet. 38 (2006) 1114-1123
32. Polymeropoulos M.H., Lavedan C., Leroy E., Ide S.E., Dehejia A., Dutra A., Pike B., Root H., Rubenstein J., Boyer R., et al. Mutation in the α-synuclein gene identified in families with Parkinson's disease. Science 276 (1997) 2045-2047
33. Potocki L., Bi W., Treadwell-Deering D., Carvalho C.M.B., Eifert A., Friedman E.M., Glaze D., Krull K., Lee J.A., Lewis R.A., et al. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am. J. Hum. Genet. 80 (2007) 633-649
34. Prigent C., Satoh M.S., Daly G., Barnes D.E., and Lindahl T. Aberrant DNA repair and DNA replication due to an inherited enzymatic defect in human DNA ligase I. Mol. Cell. Biol. 14 (1994) 310-317
35. Raskind W.H., Williams C.A., Hudson L.D., and Bird T.D. Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease. Am. J. Hum. Genet. 49 (1991) 1355-1360
36. Redon R., Ishikawa S., Fitch K.R., Feuk L., Perry G.H., Andrews T.D., Fiegler H., Shapero M.H., Carson A.R., Chen W., et al. Global variation in copy number in the human genome. Nature 444 (2006) 444-454
37. Rovelet-Lecrux A., Hannequin D., Raux G., Le Meur N., Laquerrière A., Vital A., Dumanchin C., Feuillette S., Brice A., Vercelletto M., et al. APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat. Genet. 38 (2006) 24-26
38. Shaw C.J., and Lupski J.R. Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Hum. Mol. Genet. 13 (2004) R57-R64
39. Shaw C.J., and Lupski J.R. Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms. Hum. Genet. 116 (2005) 1-7
40. Singleton A.B., Farrer M., Johnson J., Singleton A., Hague S., Kachergus J., Hulihan M., Peuralinna T., Dutra A., Nussbaum R., et al. α-Synuclein locus triplication causes Parkinson's disease. Science 302 (2003) 841
41. Sistermans E.A., de Coo R.F.M., De Wijs I.J., and Van Oost B.A. Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease. Neurology 50 (1998) 1749-1754
42. Slack A., Thornton P.C., Magner D.B., Rosenberg S.M., and Hastings P.J. On the mechanism of gene amplification induced under stress in Escherichia coli. PLoS Genet. 2 (2006) e48
43. Smith C.E., Llorente B., and Symington L.S. Template switching during break-induced replication. Nature 447 (2007) 102-105
44. Toffolatti L., Cardazzo B., Nobile C., Danieli G.A., Gualandi F., Muntoni F., Abbs S., Zanetti P., Angelini C., Ferlini A., et al. Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene. Genomics 80 (2002) 523-530
45. Trinh T.Q., and Sinden R.R. Preferential DNA secondary structure mutagenesis in the lagging strand of replication in E. coli. Nature 352 (1991) 544-547
46. Van Esch H., Bauters M., Ignatius J., Jansen M., Raynaud M., Hollanders K., Lugtenberg D., Bienvenu T., Jensen L.R., Gécz J., et al. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am. J. Hum. Genet. 77 (2005) 442-453
47. Vissers L.E.L.M., Stankiewicz P., Yatsenko S.A., Crawford E., Creswick H., Proud V.K., de Vries B.B.A., Pfundt R., Marcelis C.L.M., Zackowski J., et al. Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies. Hum. Genet. 121 (2007) 697-709
48. Wojciechowska M., Bacolla A., Larson J.E., and Wells R.D. The myotonic dystrophy type 1 triplet repeat sequence induces gross deletions and inversions. J. Biol. Chem. 280 (2005) 941-952
49. Wolf N.I., Sistermans E.A., Cundall M., Hobson G.M., Davis-Williams A.P., Palmer R., Stubbs P., Davies S., Endziniene M., Wu Y., et al. Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease. Brain 128 (2005) 743-751
50. Woodward K.J., Cundall M., Sperle K., Sistermans E.A., Ross M., Howell G., Gribble S.M., Burford D.C., Carter N.P., Hobson D.L., et al. Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination. Am. J. Hum. Genet. 77 (2005) 966-987