The Genom of Homo sapiens.pdf

454 STANKIEWICZ ET AL.Legius E. 2001. Recombination hotspot in NF1 microdeletionpatients. Hum. Mol. Genet. 10: 1387.Lupski J.R. 1998. Genomic disorders: Structural features of thegenome can lead to DNA rearrangements and human diseasetraits. Trends Genet. 14: 417._______ . 2003. Genomic disorders: Recombination-based diseaseresulting from genome architecture. Am. J. Hum. Genet. 72:246.Lupski J.R. and Garcia C.A. 2001. Charcot-Marie-Tooth peripheralneuropathies and related disorders. In The metabolic andmolecular bases of inherited diseases (ed. C.R. Scriver et al.),p. 5759. McGraw-Hill, New York.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., Chakravarti A., and Patel P.I. 1991.DNA duplication associated with Charcot-Marie-Tooth diseasetype 1A. Cell 66: 219.Park S.-S., Stankiewicz P., Bi W., Shaw C., Lehoczky J., DewarK., Birren B., and Lupski J.R. 2002. Structure and evolutionof the Smith-Magenis syndrome repeat gene clusters, SMS-REPs. Genome Res. 12: 729.Pentao L., Wise C.A., Chinault A.C., Patel P.I., and Lupski J.R.1992. Charcot-Marie-Tooth type 1A duplication appears toarise from recombination at repeat sequences flanking the 1.5Mb monomer unit. Nat. Genet. 2: 292.Potocki L., Chen K.-S., Koeuth T., Killian J., Iannaccone S.T.,Shapira S.K., Kashork C.D., Spikes A.S., Shaffer L.G., andLupski J.R. 1999. DNA rearrangements on both homologuesof chromosome 17 in a mildly delayed individual with a familyhistory of autosomal dominant carpal tunnel syndrome.Am. J. Hum. Genet. 64: 471.Potocki L., Chen K.-S., Park S.-S., Osterholm D.E., WithersM.A., Kimonis, V., Summers, A.M., Meschino W.S.,Anyane-Yeboa K., Kashork C.D., Shaffer L.G., and LupskiJ.R. 2000. Molecular mechanism for duplication 17p11.2—The homologous recombination reciprocal of the Smith-Magenismicrodeletion. Nat. Genet. 24: 84.Ramirez-Solis R., Liu P., and Bradley A. 1995. Chromosome engineeringin mice. Nature 378: 720.Reiter L.T., Murakami T., Koeuth T., Gibbs R.A., and Lupski,J.R. 1997. The human COX10 gene is disrupted during homologousrecombination between the 24 kb proximal and distalCMT1A-REPs. Hum. Mol. Genet. 6: 1595.Reiter L.T., Hastings P.J., Nelis E., De Jonghe P., Van BroeckhovenC., and Lupski J.R. 1998. Human meiotic recombinationproducts revealed by sequencing a hotspot for homologousstrand exchange in multiple HNPP deletion patients. Am.J. Hum. Genet. 62: 1023.Reiter L.T., Murakami T., Koeuth T., Pentao L., Muzny D.,Gibbs R.A., and Lupski J.R. 1996. A recombination hotspotresponsible for two inherited peripheral neuropathies is locatednear a mariner transposon-like element. Nat. Genet. 12:288. (erratum in Nat. Genet. [1998] 19: 303).Rio M., Clech L., Amiel J., Faivre L., Lyonnet S., Le Merrer M.,Odent S., Lacombe D., Edery P., Brauner R., Raoul O., GossetP., Prieur M., Vekemans M., Munnich A., Colleaux L.,and Cormier-Daire V. 2003. Spectrum of NSD1 mutations inSotos and Weaver syndromes. J. Med. Genet. 40: 436.Saglio G., Storlazzi C.T., Giugliano E., Surace C., Anelli L.,Rege-Cambrin G., Zagaria A., Jimenez Velasco A., HeinigerA., Scaravaglio P., Torres Gomez A., Roman Gomez J.,Archidiacono N., Banfi S., and Rocchi M.A. 2002. A 76-kbduplicon maps close to the BCR gene on chromosome 22 andthe ABL gene on chromosome 9: Possible involvement in thegenesis of the Philadelphia chromosome translocation. Proc.Natl. Acad. Sci. 99: 9882.Samonte R.V. and Eichler E.E. 2002. Segmental duplicationsand the evolution of the primate genome. Nat. Rev. Genet. 3:65.Saunier S., Calado J., Benessy F., Silbermann F., Heilig R.,Weissenbach J., and Antignac C. 2000. Characterization ofthe NPHP1 locus: Mutational mechanism involved in deletionsin familial juvenile nephronophthisis. Am. J. Hum.Genet. 66: 778.Shaffer L.G. and Lupski J.R. 2000. Molecular mechanisms forconstitutional chromosomal rearrangements in humans.Annu. Rev. Genet. 34: 297.Shaw C.J., Bi W., and Lupski J.R. 2002. Genetic proof of unequalmeiotic crossovers in reciprocal deletion and duplicationof 17p11.2. Am. J. Hum. Genet. 71: 1072.Slager R.E., Newton T.L., Vlangos C.N., Finucane B., and ElseaS.H. 2003. Mutations in RAI1 associated with Smith-Magenissyndrome. Nat. Genet. 33: 466.Smith A.C., McGavran L., Robinson J., Waldstein G., MacfarlaneJ., Zonona J., Reiss J., Lahr M., Allen L., and Magenis E.1986. Interstitial deletion of (17)(p11.2p11.2) in nine patients.Am. J. Med. Genet. 24: 393.Spiteri E., Babcock M., Kashork C.D., Wakui K., Gogineni S.,Lewis D.A., Williams K.M., Minoshima S., Sasaki T.,Shimizu N., Potocki L., Pulijaal V., Shanske A., Shaffer L.G.,and Morrow B.E. 2003. Frequent translocations occur betweenlow copy repeats on chromosome 22q11.2 (LCR22s)and telomeric bands of partner chromosomes. Hum. Mol.Genet. 12: 1823.Stankiewicz P. and Lupski J.R. 2002a. Genome architecture, rearrangementsand genomic disorders. Trends Genet. 18: 74._______ . 2002b Molecular-evolutionary mechanisms for genomicdisorders. Curr. Opin. Genet. Dev. 12: 312.Stankiewicz P., Park S.-S., Inoue K., and Lupski J.R. 2001a. Theevolutionary chromosome translocation 4;19 in Gorilla gorillais associated with microduplication of the chromosomefragment syntenic to sequences surrounding the human proximalCMT1A-REP. Genome Res. 11: 1205.Stankiewicz P., Cheung S.W., Shaw C.J., Saleki R., Szigeti K.,and Lupski J.R. 2003a. The donor chromosome breakpointfor a jumping translocation is associated with large low-copyrepeats in 21q21.3. Cytogenet. Genome Res. 101: 118.Stankiewicz P., Park S.-S., Holder S.E., Waters C.S., PalmerR.W., Berend S.A., Shaffer L.G., Potocki L., and Lupski J.R.2001b. Trisomy 17p10-p12 resulting from a supernumerarymarker chromosome derived from chromosome 17: Molecularanalysis and delineation of the phenotype. Clin. Genet. 60: 336.Stankiewicz P., Shaw C.J., Dapper J.D., Wakui K., Shaffer L.G.,Withers M., Elizondo L., Park S.-S., and Lupski J.R. 2003b.Genome architecture catalyzes nonrecurrent chromosomal rearrangements.Am. J. Hum. Genet. 72: 1101.Stratton R.F., Dobyns W.B., Greenberg F., DeSana J.B., MooreC., Fidone G., Runge G.H., Feldman P., Sekhon G.S., PauliR.M., and Ledbetter D.H. 1986. Interstitial deletion of(17)(p11.2p11.2): Report of six additional patients with a newchromosome deletion syndrome. Am. J. Med. Genet. 24: 421.Versalovic J., Koeuth T., Britton R., Geszvain K., and LupskiJ.R. 1993. Conservation and evolution of the rpsU-dnaGrpoDmacromolecular synthesis operon in bacteria. Mol. Microbiol.8: 343.Waldman A.S. and Liskay R.M. 1988. Dependence of intrachromosomalrecombination in mammalian cells on uninterruptedhomology. Mol. Cell. Biol. 8: 5350.Walz K., Spencer C., Kaasik K., Lee C.C., Lupski J.R., andPaylor R. 2004. Behavorial characterization of mouse modelsfor Smith-magenis syndrome and dup17(p11.2p11.2).Hum. Mol. Genet. (in press).Walz K., Caratini-Rivera S., Bi W., Fonseca P., Mansouri D.L.,Lynch J., Vogel H., Noebels J.L., Bradley A., and LupskiJ.R. 2003. Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosomeengineering in mice: Phenotypic consequences of genedosage imbalance. Mol. Cell Biol. 23: 3646.Wildman D.E., Uddin M., Liu G., Grossman L.I., and Goodman M.2003. Implications of natural selection in shaping 99.4% nonsynonymousDNA identity between humans and chimpanzees:Enlarging genus Homo. Proc. Natl. Acad. Sci. 100: 7181.Yunis J.J. and Prakash O. 1982. The origin of man: A chromosomalpictorial legacy. Science 215: 1525.