Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome (original) (raw)

• Krawczak, M. & Cooper, D.N. Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum. Genet. 86, 425–441 (1991).
  CAS PubMed Google Scholar
• Peeters, B.P.H., de Boer, J.H., Bron, S. & Venema, G. Structural plasmid instability in Bacillus subtilis: effect of direct and inverted repeats. Mol. Gen. Genet. 212, 450–458 (1988).
  CAS PubMed Google Scholar
• Singer, B.S. & Westlye, J. Deletion formation in bacteriophage T4. J. Mol. Biol. 202, 233–243 (1988).
  CAS PubMed Google Scholar
• Whoriskey, S.K., Schofield, M.A. & Miller, J.H. Isolation and characterization of Escherichia coli mutants with altered rates of deletion formation. Genetics 127, 21–30 (1991).
  CAS PubMed PubMed Central Google Scholar
• Greenberg, F. et al. Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). Am. J. Hum. Genet. 49, 1207–1218 (1991).
  CAS PubMed PubMed Central Google Scholar
• Smith, A.C.M. et al. Interstitial deletion of (17)(p11.2p11.2) in nine patients. Am. J. Med. Genet. 24, 393–414 (1986).
  CAS PubMed Google Scholar
• Stratton, R.F. et al. Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome. Am. J. Med. Genet. 24, 421–432 (1986).
  CAS PubMed Google Scholar
• Greenberg, F. et al. Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2). Am. J. Med. Genet. 62, 247–254 (1996).
  CAS PubMed Google Scholar
• Chen, K.-S., Potocki, L. & Lupski, J.R. Smith-Magenis syndrome [del(17)p11.2]: clinical review and molecular advances. Ment. Retard. Dev. Disabil. Res. Rev. 2, 122–129 (1996).
  Google Scholar
• Guzzetta, V. et al. Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p. Genomics 13, 551–559 (1992).
  Article CAS PubMed Google Scholar
• Juyal, R.C. et al. Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients. Am. J. Hum. Genet. 58, 998–1007 (1996).
  CAS PubMed PubMed Central Google Scholar
• Trask, B.J. et al. Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients. Hum. Genet. 98, 710–718 (1996).
  CAS PubMed Google Scholar
• Ledbetter, D.H. & Ballabio, A. Molecular cytogenetics of contiguous gene syndromes: mechanisms and consequences of gene dosage imbalance. in The Metabolic and Molecular Bases of Inherited Disease, 7th Ed., Vol. 1 (eds Scriver, C.R., Beaudet, A.L, Sly, W.S. & Valle, D.) 811–839 (McGraw-Hill, New York, (1995).
  Google Scholar
• Guzzetta, V., Montes de Oca-Luna, R., Lupski, J.R. & Patel, P.I. Isolation of region-specific and polymorphic markers from chromosome 17 by restricted Alu polymerase chain reaction. Genomics 9, 31–36 (1991).
  CAS PubMed Google Scholar
• Bellanné-Chantelot, C. et al. Mapping the whole human genome by fingerprinting yeast artificial chromosomes. Cell 70, 1059–1068 (1992).
  PubMed Google Scholar
• Albertsen, H.M. et al. Construction and characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents. Proc. Natl. Acad. Sci. USA 87, 4256–4260 (1990).
  CAS PubMed PubMed Central Google Scholar
• Murray, J.C. et al. A comprehensive human linkage map with centimorgan density. Science 265, 2049–2054 (1994).
  CAS PubMed Google Scholar
• Green, E.D. & Olson, M.V. Systematic screening of yeast artificial-chromosome libraries by use of the polymerase chain reaction. Proc. Natl. Acad. Sci. USA 87, 1213–1217 (1990).
  CAS PubMed PubMed Central Google Scholar
• Kwiatkowski, T.J.J., Zoghbi, H.Y., Ledbetter, S.A., Ellison, K.A. & Chinault, A.C. Rapid identification of yeast artificial chromosome clones by matrix pooling and crude lysate PCR. Nucleic Acids Res. 18, 7191–7192 (1990).
  CAS PubMed PubMed Central Google Scholar
• Chumakov, I.M. et al. Isolation of chromosome 21-specific yeast artificial chromosomes from a total human genome library. Nature Genet. 1, 222–225 (1992).
  CAS PubMed Google Scholar
• Chumakov, I. et al. Continuum of overlapping clones spanning the entire human chromosome 21q. Nature 359, 380–387 (1992).
  CAS PubMed Google Scholar
• Herz, J., Flint, N., Stanley, K., Frank, R. & Dobberstein, B. The 68 kDa protein of signal recognition particle contains a glycine-rich region also found in certain RNA-binding proteins. FEBS Lett. 276, 103–107 (1990).
  CAS PubMed Google Scholar
• Nakamura, T. et al. A novel transcriptional unit of the tre oncogene widely expressed in human cancer cells. Oncogene 7, 733–741 (1992).
  CAS PubMed Google Scholar
• Chevillard, C. et al. Relationship between Charcot-Marie-Tooth 1A and Smith-Magenis regions: snU3 may be a candidate gene for the Smith-Magenis syndrome. Hum. Mol. Genet. 2, 1235–1243 (1993).
  CAS PubMed Google Scholar
• Kallioniemi, O.-P. et al. Physical mapping of chromosome 17 cosmids by fluorescence in situ hybridization and digital image analysis. Genomics 20, 125–128 (1994).
  CAS PubMed Google Scholar
• Lee, C.C. et al. Isolation of chromosome-specific genes by reciprocal probing of arrayed cDNA and cosmid libraries. Hum. Mol. Genet. 8, 1373–1380 (1995).
  Google Scholar
• de Hostos, E.L., Bradtke, B., Lottspeich, F. & Gerisch, G. Coactosin, a 17 kDa F-actin binding protein from Dictyostelium discoideum. Cell. Motil. Cytoskeleton 26, 181–191 (1993).
  CAS PubMed Google Scholar
• Wu, C., Friedlander, P., Lamoureux, C., Zannis-Hadjopoulos, M. & Price, G.B. cDNA clones contain autonomous replication activity. Biochim. Biophys. Acta 1174, 241–257 (1993).
  CAS PubMed Google Scholar
• Shaffer, L.G., Kennedy, G.M., Spikes, A.S. & Lupski, J.R. Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory. Am. J. Med. Genet. 69, 325–331 (1997).
  CAS PubMed Google Scholar
• Scheurlen, W.G. et al. High-resolution deletion mapping of chromosome arm 17p in childhood primitive neuroectodermal tumors reveals a common chromosomal disruption within the Smith-Magenis region, an unstable region in chromosome band 17p11.2. Genes Chromosomes Cancer 18, 50–58 (1997).
  CAS PubMed Google Scholar
• Wilgenbus, K.K. et al. Molecular characterization of a genetically unstable region containing the SMS critical area and a breakpoint cluster for human PNETs. Genomics 42, 1–10 (1997).
  CAS PubMed Google Scholar
• Lifton, R.P. et al. A chimaeric 11_β_-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. Nature 355, 262–265 (1992).
  CAS PubMed Google Scholar
• Melki, J. et al. De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science 264, 1474–1477 (1994).
  CAS PubMed Google Scholar
• Roy, N. et al. The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell 80, 167–178 (1995).
  CAS PubMed Google Scholar
• Lefebvre, S. et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80, 155–165 (1995).
  CAS PubMed Google Scholar
• 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 8, 263–270 (1990).
  CAS PubMed Google Scholar
• Yen, P.H. et al. Frequent deletions of the human X chromosome distal short arm result form recombination between low copy repetitive elements. Cell 61, 603–610 (1990).
  CAS PubMed Google Scholar
• Li, X.-M., Yen, P.H. & Shapiro, L.J. Characterization of a low copy repetitive element S232 involved in the generation of frequent deletions of the distal short arm of the human X chromosome. Nucleic Acids Res. 20, 1117–1122 (1992).
  CAS PubMed PubMed Central Google Scholar
• Nathans, J., Piantanida, T.P., Eddy, R.L., Shows, T.B. & Hogness, D.S. Molecular genetics of inherited variation in human color vision. Science 232, 203–210 (1986).
  CAS PubMed Google Scholar
• Maniatis, T., Fritsch, E.F., Lauer, J. & Lawn, R.M. The molecular genetics of human hemoglobins. Annu. Rev. Genet. 14, 145–178 (1980).
  CAS PubMed Google Scholar
• Lakich, D., Kazazian, H.H., Antonarakis, S.E. Jr., & Gitschier, J. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nature Genet. 5, 236–241 (1993).
  CAS PubMed Google Scholar
• Juyal, R.C. et al. Apparent mosaicism for del(17)(p11.2) ruled out by fluorescence in situ hybridization in a Smith-Magenis syndrome patient. Am. J. Med. Genet. 59, 406–407 (1995).
  CAS PubMed Google Scholar
• Juyal, R.C. et al. Smith-Magenis syndrome deletion: a case with equivocal cytogenetic findings resolved by fluorescence in situ hybridization. Am. J. Med. Genet. 58, 286–291 (1995).
  CAS PubMed Google Scholar
• Zori, R.T. et al. Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion. Am. J. Med. Genet. 47, 504–511 (1993).
  CAS PubMed Google Scholar
• Botto, M. et al. Homozygous hereditary C3 deficiency due to a partial gene deletion. Proc. Natl. Acad. Sci. USA 89, 4957–4961 (1992).
  CAS PubMed PubMed Central Google Scholar
• Lehrman, M.A., Russell, D.W., Goldstein, J.L. & Brown, M.S. Alu-Alu recombination deletes splice acceptor sites and produces secreted low density lipoprotein receptor in a subject with familial hypercholesterolemia. J. Biol. Chem. 262, 3354–3361 (1987).
  CAS PubMed Google Scholar
• Kmiec, E.B., Angelides, K.J. & Holloman, W.K. Left-handed DNA and the synaptic pairing reaction promoted by Ustilago Red protein. Cell 40, 139–145 (1985).
  CAS PubMed Google Scholar
• 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. Nature Genet. 2, 292–300 (1992).
  CAS PubMed 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).
  CAS PubMed Google Scholar
• Roa, B.B. & Lupski, J.R. Molecular genetics of Charcot-Marie-Tooth neuropathy, in Advances in Human Genetics, Vol. 22 (eds Harris, H. & Hirschhorn, K.) 117–152 (Plenum, New York, (1994).
  Google Scholar
• Reiter, L.T. et al. A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nature Genet. 12, 288–297 (1996).
  CAS PubMed Google Scholar
• LeGuern, E. et al. A de novo case of hereditary neuropathy with liability to pressure palsies (HNPP) of maternal origin: a new mechanism for deletion in 17p11.2? Hum. Mol. Genet. 5, 103–106 (1996).
  CAS PubMed Google Scholar
• Jones, C. et al. Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2. Nature 376, 145–149 (1995).
  CAS PubMed Google Scholar
• Roa, B.B. et al. Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 A neuropathy. Hum. Genet. 97, 642–649 (1996).
  CAS PubMed Google Scholar
• Reiter, L.T., Murakami, T., Koeuth, T., Gibbs, R.A. & Lupski, J.R. The human COX10 gene is disrupted during homologous recombination between the 24-Kb proximal and distal CMT1 A-REPs. Hum. Mol. Genet. 6, 1595–1603 (1997).
  CAS PubMed Google Scholar
• Halford, S. et al. Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11. Hum. Mol. Genet. 2, 191–196 (1993).
  CAS PubMed Google Scholar
• Ji, Y. et al. An evolutionary conserved gene associated with the common deletion breakpoint regions in the Prader-Willi/Angelman syndromes. Am. J. Hum. Genet. 59, A158 (1996).
  Google Scholar
• Christian, S.L. et al. Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients. Am. J. Hum. Genet. 57, 40–48 (1995).
  CAS PubMed PubMed Central Google Scholar
• Pérez, L.A., Peoples, R., Kaplan, P., Hamel, B.C.J. & Francke, U. Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth. Am. J. Hum. Genet. 59, 781–792 (1996).
  Google Scholar
• Altschul, S.F., Gish, W., Miller, W., Myers, E.W. & Lipman, D.J. Basic local alignment search tool. J. Mol. Biol. 215, 403–410 (1990).
  CAS PubMed Google Scholar
• Evans, G.A., Lewis, K. & Rothenberg, B.E. High efficiency vectors for cosmid microcloning and genomic analysis. Gene 79, 9–20 (1989).
  CAS PubMed Google Scholar
• Brownstein, B.H. et al. Isolation of single-copy human genes from a library of yeast artificial chromosome clones. Science 244, 1348–1351 (1989).
  CAS PubMed Google Scholar
• Ochman, H., Gerber, A.S. & Hartl, D.L. Genetic applications of an inverse polymerase chain reaction. Genetics 120, 621–623 (1988).
  CAS PubMed PubMed Central Google Scholar
• Silverman, G.A. et al. Yeast artificial chromosome cloning of a two-megabase-size contig within chromosomal band 18q21 establishes physical linkage between BCL2 and plasminogen activator inhibitor type-2. Genomics 9, 219–228 (1991).
  CAS PubMed Google Scholar
• Feinberg, A.P. & Vogelstein, B. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.Anal. Biochem. 132, 6–13 (1983).
  CAS PubMed Google Scholar
• Chen, K.-S. et al. The human homologue of the Drosophila melanogasterflightless-I gene (fill) maps within the Smith-Magenis microdeletion critical region in 17p11.2. Am. J. Hum. Genet. 56, 175–182 (1995).
  CAS PubMed PubMed Central Google Scholar
• van Tuinen, P., Rich, D.C., Summers, K.M. & Ledbetter, D.H. Regional mapping panel for human chromosome 17: application to neurofibromatosis type 1. Genomics 1, 374–381 (1987).
  CAS PubMed Google Scholar
• Elder, F.F.B., Nichols, M.M., Hood, O.J. & Harrison, W.R. III.Unbalanced translocation (15;17)(q13;p13.3) with apparent Prader-Willi syndrome but without Miller-Dieker syndrome. Am. J. Med. Genet. 20, 519–524 (1985).
  CAS PubMed Google Scholar
• Roa, B.B. et al. Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1 A. Nature Genet. 5, 189–194 (1993).
  CAS PubMed Google Scholar
• Gyapay, G. et al. The 1993-94 Genethon human genetic linkage map. Nature Genet. 7, 246–249 (1994).
  CAS PubMed Google Scholar
• Matise, T.C., Perlin, M. & Chakravarti, A. Automated construction of genetic linkage maps using an expert system (MultiMap): a human genome linkage map. Nature Genet. 6, 384–390 (1994).
  CAS PubMed Google Scholar
• Weissenbach, J. et al. A second-generation linkage map of the human genome. Nature 359, 794–801 (1992).
  CAS PubMed Google Scholar
• Buetow, K.H. et al. Human genetic map; genome maps V: wall chart. Science 265, 2055–2070 (1994).
  CAS PubMed Google Scholar
• Townsend-Nicholson, A., Baker, E., Sutherland, G.R. & Schofield, P.R. Localization of the adenosine A2b receptor subtype gene (ADORA2B) to chromosome 17p11.2-p12 by FISH and PCR screening of somatic cell hybrids. Genomics 25, 605–607 (1995).
  CAS PubMed Google Scholar
• Hua, X., Wu, J., Goldstein, J.L., Brown, M.S. & Hobbs, H.H. Structure of the human gene encoding sterol regulatory element binding protein-1 (SREBF1) and localization of SREBFl and SREBF2 to chromosomes 17p11.2 and 22q13. Genomics 25, 667–673 (1995).
  CAS PubMed Google Scholar
• Campbell, H.D. et al. Genomic structure, evolution, and expression of human FLU, a gelsolin and leucine-rich-repeat family member: overlap with LLGL. Genomics 42, 46–54 (1997).
  CAS PubMed Google Scholar
• Koyama, K. et al. The human homologue of the murine Llglh gene (LLGL) maps within the Smith-Magenis syndrome region in 17p11.2. Cytogenet. Cell Genet. 72, 78–82 (1996).
  CAS PubMed Google Scholar
• Elsea, S.H. et al. Haploinsufficiency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndrome. Am. J. Hum. Genet. 57, 1342–1350 (1995).
  CAS PubMed PubMed Central Google Scholar
• Zhao, Z. et al. The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients. Hum. Mol. Genet. 4, 589–597 (1995).
  CAS PubMed Google Scholar
• Matsuda, Y. et al. Chromosome mapping of human (ZNF179), mouse, and rat genes for brain finger protein (bfp), a member of the RING finger family. Genomics 33, 325–327 (1996).
  CAS PubMed Google Scholar
• Kimura, T. et al. The brain finger protein gene (ZNF179), a member of the RING finger family, maps within the Smith-Magenis syndrome region at 17p11.2. Am. J. Med. Genet. 69, 320–324 (1997).
  CAS PubMed Google Scholar
• Hiraoka, L.R., Hsu, L. & Hsieh, C.-L. Assignment of ALDH3 to human chromosome 17p11.2 and ALDH5 to human chromosome 9p13. Genomics 25, 323–325 (1995).
  CAS PubMed Google Scholar
• De Laurenzi, V. et al. Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. Nature Genet. 12, 52–57 (1996).
  CAS PubMed Google Scholar