The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans (original) (raw)
Lee, J.A., Carvalho, C.M. & Lupski, J.R. A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell131, 1235–1247 (2007). ArticleCAS Google Scholar
Hastings, P.J., Ira, G. & Lupski, J.R. A microhomology-mediated break-induced replication model for the origin of human copy number variation. PLoS Genet.5, e1000327 (2009). ArticleCAS Google Scholar
Ohno, S. Evolution by Gene Duplication (Springer-Verlag, Berlin, 1970). Book Google Scholar
Iafrate, A.J. et al. Detection of large-scale variation in the human genome. Nat. Genet.36, 949–951 (2004). ArticleCAS Google Scholar
Sebat, J. et al. Large-scale copy number polymorphism in the human genome. Science305, 525–528 (2004). ArticleCAS Google Scholar
Redon, R. et al. Global variation in copy number in the human genome. Nature444, 444–454 (2006). ArticleCAS Google Scholar
Feuk, L., Carson, A.R. & Scherer, S.W. Structural variation in the human genome. Nat. Rev. Genet.7, 85–97 (2006). ArticleCAS Google Scholar
Flores, M. et al. Recurrent DNA inversion rearrangements in the human genome. Proc. Natl. Acad. Sci. USA104, 6099–6106 (2007). ArticleCAS Google Scholar
Korbel, J.O. et al. Paired-end mapping reveals extensive structural variation in the human genome. Science318, 420–426 (2007). ArticleCAS Google Scholar
Kidd, J.M. et al. Mapping and sequencing of structural variation from eight human genomes. Nature453, 56–64 (2008). ArticleCAS Google Scholar
Perry, G.H. et al. The fine-scale and complex architecture of human copy-number variation. Am. J. Hum. Genet.82, 685–695 (2008). ArticleCAS Google Scholar
Gu, W., Zhang, F. & Lupski, J.R. Mechanisms for human genomic rearrangements. PathoGenetics1, 4 (2008). Article Google Scholar
Stankiewicz, P. & Lupski, J.R. Genome architecture, rearrangements and genomic disorders. Trends Genet.18, 74–82 (2002). ArticleCAS Google Scholar
Lieber, M.R. The mechanism of human nonhomologous DNA end joining. J. Biol. Chem.283, 1–5 (2008). ArticleCAS Google Scholar
Kitamura, E., Blow, J.J. & Tanaka, T.U. Live-cell imaging reveals replication of individual replicons in eukaryotic replication factories. Cell125, 1297–1308 (2006). ArticleCAS Google Scholar
Slack, A., Thornton, P.C., Magner, D.B., Rosenberg, S.M. & Hastings, P.J. On the mechanism of gene amplification induced under stress in Escherichia coli. PLoS Genet.2, e48 (2006). Article Google Scholar
Arlt, M.F. et al. Replication stress induces genome-wide copy number changes in human cells that resemble polymorphic and pathogenic variants. Am. J. Hum. Genet.84, 339–350 (2009). ArticleCAS Google Scholar
Zhang, F., Carvalho, C.M.B. & Lupski, J.R. Complex human chromosomal and genomic rearrangements. Trends Genet. (in the press).
Chen, J.M., Chuzhanova, N., Stenson, P.D., Ferec, C. & Cooper, D.N. Complex gene rearrangements caused by serial replication slippage. Hum. Mutat.26, 125–134 (2005). ArticleCAS Google Scholar
Vissers, L.E. et al. Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies. Hum. Genet.121, 697–709 (2007). ArticleCAS Google Scholar
Tuzun, E. et al. Fine-scale structural variation of the human genome. Nat. Genet.37, 727–732 (2005). ArticleCAS Google Scholar
Bailey, J.A., Liu, G. & Eichler, E.E. An Alu transposition model for the origin and expansion of human segmental duplications. Am. J. Hum. Genet.73, 823–834 (2003). ArticleCAS Google Scholar
Sen, S.K. et al. Human genomic deletions mediated by recombination between Alu elements. Am. J. Hum. Genet.79, 41–53 (2006). ArticleCAS Google Scholar
Lupski, J.R. & Chance, P.F. Hereditary motor and sensory neuropathies involving altered dosage or mutation of PMP22: the CMT1A duplication and HNPP deletion. in Peripheral Neuropathy (eds. Dyck, P.J. and Thomas, P.K.). 1659–1680 (Elsevier Science, Philadelphia, 2005). Chapter Google Scholar
Payen, C., Koszul, R., Dujon, B. & Fischer, G. Segmental duplications arise from Pol32-dependent repair of broken forks through two alternative replication-based mechanisms. PLoS Genet.4, e1000175 (2008). Article Google Scholar
Smith, C.E., Llorente, B. & Symington, L.S. Template switching during break-induced replication. Nature447, 102–105 (2007). ArticleCAS Google Scholar
Lydeard, J.R., Jain, S., Yamaguchi, M. & Haber, J.E. Break-induced replication and telomerase-independent telomere maintenance require Pol32. Nature448, 820–823 (2007). ArticleCAS Google Scholar
Long, M. Evolution of novel genes. Curr. Opin. Genet. Dev.11, 673–680 (2001). ArticleCAS Google Scholar
van Rijk, A.A., de Jong, W.W. & Bloemendal, H. Exon shuffling mimicked in cell culture. Proc. Natl. Acad. Sci. USA96, 8074–8079 (1999). ArticleCAS Google Scholar
Jones, J.M. et al. The mouse neurological mutant flailer expresses a novel hybrid gene derived by exon shuffling between Gnb5 and Myo5a. Hum. Mol. Genet.9, 821–828 (2000). ArticleCAS Google Scholar
Bi, W. et al. Increased LIS1 expression affects human and mouse brain development. Nat. Genet.41, 168–177 (2009). ArticleCAS Google Scholar
Carvalho, C.M. et al. Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum. Mol. Genet.18, 2188–2203 (2009). ArticleCAS Google Scholar
Potocki, L. 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, 633–649 (2007). ArticleCAS Google Scholar
Doco-Fenzy, M. et al. The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients. Am. J. Med. Genet. A146, 917–924 (2008). Article Google Scholar