Germline rates of de novo meiotic deletions and duplications causing several genomic disorders (original) (raw)
Stankiewicz, P. & Lupski, J.R. Genome architecture, rearrangements and genomic disorders. Trends Genet.18, 74–82 (2002). ArticleCAS Google Scholar
Lupski, J.R. & Stankiewicz, P. Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet.1, e49 (2005). Article Google Scholar
Redon, R. et al. Global variation in copy number in the human genome. Nature444, 444–454 (2006). ArticleCAS Google Scholar
Hurles, M.E. & Lupski, J.R. Recombination hotspots in nonallelic homologous recombination. in Genomic Disorders: the Genomic Basis of Disease Ch. 24 (eds. Lupski, J.R. & Stankiewicz, P.) 341–355 (Humana Press, Totowa, New Jersey, USA, 2006). Chapter Google Scholar
Chance, P.F. et al. Two autosomal-dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome-17. Hum. Mol. Genet.3, 223–228 (1994). ArticleCAS Google Scholar
Potocki, L. et al. Molecular mechanism for duplication 17p11.2—the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat. Genet.24, 84–87 (2000). ArticleCAS Google Scholar
Long, F.L., Duckett, D.P., Billam, L.J., Williams, D.K. & Crolla, J.A. Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay. J. Med. Genet.35, 425–428 (1998). ArticleCAS Google Scholar
Edelmann, L. et al. A common molecular basis for rearrangement disorders on chromosome 22q11. Hum. Mol. Genet.8, 1157–1167 (1999). ArticleCAS Google Scholar
Somerville, M.J. et al. Severe expressive-language delay related to duplication of the Williams-Beuren locus. N. Engl. J. Med.353, 1694–1701 (2005). ArticleCAS Google Scholar
Bayes, M., Magano, L.F., Rivera, N., Flores, R. & Perez Jurado, L.A. Mutational mechanisms of Williams-Beuren syndrome deletions. Am. J. Hum. Genet.73, 131–151 (2003). ArticleCAS Google Scholar
Blanco, P. et al. Divergent outcomes of intrachromosomal recombination on the human Y chromosome: male infertility and recurrent polymorphism. J. Med. Genet.37, 752–758 (2000). ArticleCAS Google Scholar
Bosch, E. & Jobling, M.A. Duplications of the AZFa region of the human Y chromosome are mediated by homologous recombination between HERVs and are compatible with male fertility. Hum. Mol. Genet.12, 341–347 (2003). ArticleCAS Google Scholar
Reiter, L.T. et al. A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nat. Genet.12, 288–297 (1996). ArticleCAS Google Scholar
Shaw, C.J., Withers, M.A. & Lupski, J.R. Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates. Am. J. Hum. Genet.75, 75–81 (2004). ArticleCAS Google Scholar
Jeffreys, A.J., Murray, J. & Neumann, R. High-resolution mapping of crossovers in human sperm defines a minisatellite-associated recombination hotspot. Mol. Cell2, 267–273 (1998). ArticleCAS Google Scholar
Han, L.L., Keller, M.P., Navidi, W., Chance, P.F. & Arnheim, N. Unequal exchange at the Charcot-Marie-Tooth disease type 1A recombination hotspot is not elevated above the genome average rate. Hum. Mol. Genet.9, 1881–1889 (2000). ArticleCAS Google Scholar
Tiemann-Boege, I., Calabrese, P., Cochran, D.M., Sokol, R. & Arnheim, N. High-resolution recombination patterns in a region of human chromosome 21 measured by sperm typing. PLoS Genet.2, e70 (2006). Article Google Scholar
Lupski, J. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet.14, 417–422 (1998). ArticleCAS Google Scholar
Lindsay, S.J., Khajavi, M., Lupski, J.R. & Hurles, M.E. A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination. Am. J. Hum. Genet.79, 890–902 (2006). ArticleCAS Google Scholar
Osborne, L.R. et al. A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Nat. Genet.29, 321–325 (2001). ArticleCAS Google Scholar
Lopes, J. et al. Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination. Hum. Mol. Genet.7, 141–148 (1998). ArticleCAS Google Scholar
May, C.A., Shone, A.C., Kalaydjieva, L., Sajantila, A. & Jeffreys, A.J. Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX. Nat. Genet.31, 272–275 (2002). ArticleCAS Google Scholar
Jeffreys, A.J. & Neumann, R. Reciprocal crossover asymmetry and meiotic drive in a human recombination hot spot. Nat. Genet.31, 267–271 (2002). 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
Infante, J. et al. Diagnostic strategy for familial and sporadic cases of neuropathy associated with 17p11.2 deletion. Muscle Nerve24, 1149–1155 (2001). ArticleCAS Google Scholar
Kumar, N., Cole, J. & Parry, G.J. Variability of presentation in hereditary neuropathy with liability to pressure palsy results in underrecognition. Ann. NY Acad. Sci.883, 344–350 (1999). ArticleCAS Google Scholar
Thomas, N.S. et al. Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11. Eur. J. Hum. Genet.14, 831–837 (2006). ArticleCAS Google Scholar
Kriek, M. et al. Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications. Eur. J. Hum. Genet.14, 180–189 (2006). ArticleCAS Google Scholar
Kirchhoff, M., Bisgaard, A.M., Bryndorf, T. & Gerdes, T. MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions. Eur. J. Med. Genet.50, 33–42 (2007). Article Google Scholar
Torniero, C. et al. Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus. Eur. J. Hum. Genet.15, 62–67 (2007). ArticleCAS Google Scholar
Kent, W.J. et al. The human genome browser at UCSC. Genome Res.12, 996–1006 (2002). ArticleCAS Google Scholar
Fiegler, H. et al. Accurate and reliable high-throughput detection of copy number variation in the human genome. Genome Res.16, 1566–1574 (2006). ArticleCAS Google Scholar