Pathological consequences of sequence duplications in the human genome

Genome Research

Volumn 8, Issue 10, 1998, Pages 1007-1021

  Mazzarella, Richard ^a   Schlessinger, David ^b  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b NATIONAL INSTITUTE ON AGING   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOME; DNA POLYMORPHISM; GENE DELETION; GENE DUPLICATION; GENOME; HUMAN; PATHOLOGY; PRIORITY JOURNAL; REVIEW; TANDEM REPEAT; X CHROMOSOME;

EID: 0031754413     PISSN: 10889051     EISSN: None     Source Type: Journal    
DOI: 10.1101/gr.8.10.1007     Document Type: Review

References (121)

1. Antonarakis, S.E., H.H. Kazazian Jr., and S.H. Orkin. 1985. DNA polymorphism and molecular pathology of the human globin gene clusters. Hum. Genet. 69: 1-14.
2. Babbitt, P.C. and J.A. Gerlt. 1997. Understanding enzyme superfamilies. J. Biol. Chem. 272: 30591-30594.
3. Ballabio, A., R. Carozzo, G. Parerti, A. Gil, M. Zollo, M.G. Persico, E. Gillard, N. Affara, J. Yates, M.A. Ferguson-Smith, R.R. Frants, A.W. Eriksso, and G. Andria. 1989. Molecular heterogeneity of steroid sulfatase deficiency: A multicenter study on 57 unrelated patients, at DNA and protein levels. Genomics 4: 36-40.
4. Bardoni, B., E. Zanaria, S. Guioli, G. Floridia, K.C. Worley, G. Tonini, E. Ferrante, G. Chiumello, E.R.B. McCabe, M.L. Fraccaro, O. Zuffardi, and G. Camerino. 1994. A dosage sensitive locus at chomosome Xp21 is involved in male to female sex reversal. Nat. Genet. 7: 497-501.
5. Bione, S., E. Maestrini, S. Rivella, M. Mancini, S. Regis, G. Romeo, and D. Toniolo. 1994. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat. Genet. 8: 323-327.
6. Bogdanova, N., B. Dworniczak, D. Dragova, V. Todorov, D. Dimitrakov, K. Kalinov, J. Hallmayer, J. Horst, and L. Kalaydjieva. 1995. Genetic heterogeneity of polycystic kidney disease in Bulgaria. Hum. Genet. 95: 645-650.
7. Bond, D.J. and A.C. Chandley. 1983. Aneuploidy. Oxford Monographs on Medical Genetics, No. 11. Oxford University Press, Oxford, UK.
8. Bondeson, M.L., H. Malmgren, N. Dahl, B.M. Carlberg, and U. Pettersson. 1995a. Presence of an IDS-related locus (IDS2) in Xq28 complicates the mutational analysis of Hunter syndrome. Eur. J. Hum. Genet. 3: 219-227.
9. Bondeson, M.L., N. Dahl, H. Malmgren, W.J. Kleijer, T. Tonnesen, B.M. Carlberg, and U. Pettersson. 1995b. Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome. Hum. Mol. Genet. 4: 615-621.
10. Brook-Carter, P.T., B. Peral, C.J. Ward, P. Thompson, J. Hughes, M.M. Maheshwar, M. Nellist, V. Gamble, P.C. Harris, and J.R. Sampson. 1994. Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease - A contiguous gene syndrome. Nat. Genet. 8: 328-332.
11. Chen, E.Y., M. Zollo, R. Mazzarella, A. Ciccodicola, C.-N. Chen, L. Zuo, C. Heiner, F. Burough, M. Repetto, D. Schlessinger, and M. D'Urso. 1996. Long-range sequence analysis in Xq28: Thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci. Hum. Mol. Genet. 5: 659-668.
12. Chen, K.-S., P. Manian, T. Koeuth, E. Potocki, Q. Zhao, A.C. Chinault, C.C. Lee, and J.R. Lupski. 1997. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat. Genet. 17: 154-163.
13. Choudary, P.V., E.I. Ginns, and J.A. Barranger. 1985. Molecular cloning and analysis of the human β-glucocerebrosidase gene. DNA 4: 74.
14. Christian, S.L., W.P. Robinson, B. Huang, A. Mutirangura, M.R. Line, M. Nakao, U. Surti, A. Chakravarti, and D.H. Ledbetter. 1995. Molecular characteriztion of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients. Am. J. Hum. Genet. 57: 40-48.
15. Christian, S.L., N.K. Bhatt, S.A. Martin, J.S. Sutcliffe, T. Kubota, B. Huang, A. Mutirangura, A.C. Chinault, A.L. Beaudet, and D. Ledbetter. 1998. Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb. Genome Res. 8: 146-157.
16. Collins, F.S. and S.M. Weissman. 1984. The molecular genetics of human hemoglobin. Prog. Nucleic Acid Res. Mol. Biol. 31: 315-462.
17. Daoust, M.C., D.M. Reynolds, D.G. Bichet, and S. Somlo. 1995. Evidence for a third genetic locus for autosomal dominant polycystic kidney disease. Genomics 25: 733-736.
18. De Plaen, E., K. Arden, C. Traversari, J.J. Gaforio, J.-P. Szikora, C. De Smet, F. Brasseur, P. van der Bruggen, B. Lethe, C. Lurquin, et al. 1994. Structure, chromosomal localization and expression of twelve genes of the MAGE family. Immunogenetics 40: 360-369.
19. De Smet, C., C. Lurquin, P. van der Bruggen, E. De Plaen, F. Brasseur, and T. Boon. 1994. Sequence and expression pattern of the human MAGE2 gene. Immunogenetics 42: 282-290.
20. DiDonato, C.J., X-N. Chen, D. Noya, J.R. Korenberg, J.H. Nadeau, and L.R. Simard. 1997a. Cloning, characterization, and copy number of the murine survival motor neurone gene: Homolog of the spinal muscular atrophy-determining gene. Genome Res. 7: 339-352.
21. DiDonato, C.J., S.E. Ingraham, J.R. Mendell, T.W. Prior, S. Lenard, R.T. Moxley, J. Florence, and A.H. Burghes. 1997b. Deletions and conversion in spinal muscular atrophy patients: Is there a relationship to seventy? Ann. Neurol. 41: 230-237.
22. Donohoue, P.A., C. Van Dop, N. Jospe, and C.J. Migeon. 1986. Congenital adrenal hyperplasia: Molecular mechanisms resulting in 21-hydroxylase deficiency. Acta Endocrinol. (Suppl.) 279: 315-320.
23. Donohoue, P., N. Jospe, C.J. Migeon, and C. Van Dop. 1989. Two distinct areas of unequal crossingover within the steroid 21-hydroxylase genes produce absence of CYP21B. Genomics 5: 397-406.
24. Eichler, E.E., F. Lu, Y. Shen, R. Antonacci, V. Jurecic, N.A. Doggett, R.K. Moyzis, A. Baldini, R.A. Gibbs, and D.L. Nelson. 1996. Duplication of a gene-rich cluster between 16p11.1 and Xq28: A novel pericentromeric-directed mechanism for paralogous genome evolution. Hum. Mol. Genet. 5:899-912.
25. Emery, A.E.H. 1989. Emery-Dreifuss syndrome. J. Med. Genet. 26: 637-641. European Polycystic Kidney Disease Consortium. 1994. The polycystic kidney disease I gene encodes a 14-kb transcript and lies within a duplicated region of chromosome 16. Cell 75: 1305-1315.
26. Emery, A.E.H. 1989. Emery-Dreifuss syndrome. J. Med. Genet. 26: 637-641. European Polycystic Kidney Disease Consortium. 1994. The polycystic kidney disease I gene encodes a 14-kb transcript and lies within a duplicated region of chromosome 16. Cell 75: 1305-1315.
27. Everett, L.A., B. Glaser, J.C. Beck, J.R. Idol, A. Buchs, M. Heyman, F. Adawi, E. Hazani, E. Nassir, A.D. Baxevanis, V.C. Sheffield, and E.D. Green. 1997. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat. Genet. 17: 411-422
28. Eyal, N., S. Wilder, and M. Horowitz. 1990. Prevalent and rare mutations among Gaucher patients. Gene 96: 277-283.
29. Fromenty, B., R. Carrozzo, S. Shanske, and E.A. Schon. 1997. High proportions of mtDNA duplications in patients with Kearns-Sayre syndrome occur in the heart. Am. J. Med. Genet. 71: 443-452.
30. Gabow, P.A. 1991. Autosomal dominant polycystic kidney disease - more than a renal disease. Am. J. Kidney Dis. 16: 403-413.
31. Ginns, E.I., P.V. Choudary, S. Tsuji, B. Martin, B. Stubblefield, J. Sawyer, J. Hozier, and J.A. Barranger. 1985. Gene mapping and leader peptide sequence of human glucocerebrosidase: Implications for Gaucher disease. Proc. Natl. Acad. Sci. 82: 7101-7105.
32. Gonzalez, F.J., F. Vilbois, J.P. Hardwick, D.W. McBride, D.W. Nebert, H.V. Gelboin, and U.A. Meyer. 1988. Human debrisoquine 4-hydroxylase (P450IID1): cDNA and deduced amino acid sequence and assignment of the CYP2D locus to chromosome 22. Genomics 2: 174-179.
33. Green, E.D., J.R. Idol, R.M. Mohr-Tidwell, V.V. Braden, D.C. Peluso, R.S. Fulton, H.F. Massa, C.L. Magness, A.M. Wilson, J. Kimura et al. 1994. Integration of physical, genetic and cytogenetic maps of human chromosome 7: Isolation and analysis of yeast artificial chromosome clones for 117 mapped genetic markers. Hum. Mol. Genet. 3: 489-501.
34. Halford, S., E. Lindsay, M. Nayudu, A.H. Carey, A. Baldini, and P.J. Scambler. 1993. Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11. Hum. Mol. Genet. 2: 191-196.
35. Heim, M.H. and U.A. Meyer. 1992. Evolution of a highly polymorphic human cytochrome P450 gene cluster. Genomics 14: 49-58.
36. Hewitt, J.E., R. Lyle, L.N. Clark, E.M. Valleley, T.J. Wright, C. Wijmenga, J.C.T. Van Deutekom, F. Francis, P.T. Sharpe, M. Hofker, R.R. Frants, and R. Williamson. 1994. Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy. Hum. Mol. Genet. 3: 1287-1295.
37. Higgs, D.R., M.A. Vickers, A.O.M. Wilkie, I.-M. Pretorius, A.P. Jarman, and D.J. Weatherall. 1989. A review of the molecular genetics of the human α-globin gene cluster. Blood 73: 1081-1104.
38. Hoglund, P., S. Haila, J. Socha, L. Tomaszewski, U. Saarialho-Kere, M. L. Karjalainen-Lindsberg, K. Airola, C. Holmberg, A. de la Chapelle, and J. Kere. 1996. Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea. Nat. Genet. 14: 316-319.
39. Holt, I.J., A.E. Harding, and J.A. Morgan-Hughes. 1988. Deletions of mitochondrial DNA in patients with mitochondrial myopathies. Nature 331: 717-719.
40. Hood, L., M. Kronenberg, and T. Hunkapillar. 1985. T cell antigen receptors and the immunoglobin supergene family. Cell 40: 225-229.
41. Horowitz, M., S. Wilder, Z. Horowitz, O. Reiner, T. Gelbart, and E. Beutler. 1989. The human glucocerebrosidase gene and pseudogene: Structure and evolution. Genomics 4: 87-96.
42. Huang, B., J.A. Crolla, S.L. Christian, M.E. Wolf-Ledbetter, M.E. Macha, P.N. Papenhausen, and D.H. Ledbetter. 1997. Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes. Hum. Genet. 99: 11-17.
43. Huxley, C., E. Passage, A. Manson, G. Putzu, D. Figarella-Branger, J.F. Pellissier, and M. Fontes. 1996. Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA. Hum. Mol. Genet. 5: 563-569.
44. Kere, J., A.K. Srivastava, O. Montonen, J. Zonana, N. Thomas, B. Ferguson, F. Munoz, D. Morgan, A. Clarke, P. Baybayan et al. 1996. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat. Genet. 13: 409-416.
45. Kimura, S., M. Umeno, R.C. Skoda, U.A. Meyer, and F.J. Gonzalez. 1989. The human debrisoquine 4-hydroxylase (CYP2D6) locus: Sequence and identification of the polymorphic CYP2D6 gene, a related gene and a pseudogene. Am. J. Hum. Genet. 45: 889-904.
46. Krumlauf, R. 1994. Hox genes in vertebrate development. Cell 78: 191-201.
47. Lahn, B.T. and D.C. Page. 1997. Functional coherence of the human Y chromosome. Science 278: 675-680.
48. Lakich, D., H.H. Kazazian, S.E. Antonarakis, and J. Gitschier. 1993. Inversions disrupting the factor VIII gene are a common cause of severe hemophilia A. Nat. Genet. 5: 236-241.
49. Latham, T., G.A. Grabowski, B.D.M. Theophilus, and F.I. Smith. 1990. Complex alleles of the acid β-glucocerebrosidase gene in Gaucher disease. Am. J. Hum. Genet. 47: 79-86.
50. Lee, J.H., K. Goto, K. Sahashi, I. Nonaka, C. Matsuda, and K. Arahata. 1995. Cloning and mapping of a very short (10-kb) EcoRI fragment associated with facioscapulohumeral muscular dystrophy (FSHD). Muscle & Nerve (Suppl.) 2:S27-S31.
51. Lefebvre, S., L. Burglen, S. Reboullet, O. Clermont, P. Burlet, L. Viollet, B. Benichou, C. Cruand, P. Millasseau, M. Zeviani et al. 1995. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80: 155-165.
52. Levinson, B., S. Kenwrick, D. Lakich, G. Hammonds, Jr., and J. Gitschier. 1990. A transcribed gene in an intron of the human factor VIII gene. Genomics 7: 1-11.
53. Levinson, B., S. Kenwrick, P. Gamel, K. Fisher, and J. Gitschier. 1992. Evidence for a third transcript from the human factor VIII gene. Genomics 14: 585-589.
54. Lifton, R.P., R.G. Dluhy, M. Powers, G.M. Rich, S. Cook, S. Ulick, and J.-M. Lalouel. 1992. A chimaeric 11β-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. Nature 355: 262-265.
55. Lunt, P.W. and P.S. Harper. 1991. Genetic counseling in facioscapulohumeral muscular dystrophy. J. Med. Genet. 28: 655-664.
56. Lurquin, C., C. De Smet, F. Brasseur, F. Muscatelli, V. Martelange, E. De Plaen, R. Brasseur, A.P. Monaco, and T. Boon. 1997. Two members of the human MAGEB gene family located in Xp21.3 are expressed in tumors of various histological origins. Genomics 46: 397-408.
57. Lyle, R., T.J. Wright, L.N. Clark, and J.E. Hewitt. 1995. The FSHD-associated repeat, D4Z4, is a member of a dispersed family of homeobox-containing repeats, subsets of which are clustered on the short arms of the acrocentric chromosomes. Genomics 28: 389-397.
58. Maniatis, T., E.F. Fritsch, J. Lauer, and R.M. Lawn. 1980. The molecular genetics of human hemoglobins. Annu. Rev. Genet. 14: 145-178.
59. Matise, T.C., A. Chakravarti, P.I. Patel, J.R. Lupski, E. Nelis, V. Timmerman, C. Van Broeckhoven, and D.E. Weeks. 1994. Detection of tandem duplications and implications for linkage analysis. Am. J. Hum. Genet. 54: 1110-1121.
60. Mazzarella, R. and D. Schlessinger. 1997. Duplication and distribution of repetitive elements and non-unique regions in the human genome. Gene 205: 29-38.
61. Mazzarella, R., G. Pengue, J. Jones, C. Jones, and D. Schlessinger. 1998. Cloning and expression of an immunoglobulin superfamily gene (IGSF1) in Xq25. Genomics 48: 157-162.
62. c gene copy number. Am. J. Hum. Genet. 60: 1411-1422.
63. McKusick, V.A. 1994. Mendelian inheritance in man. Catalogs of human genes and genetic disorders, 11th ed. Johns Hopkins University Press, Baltimore, MD.
64. Melki, J., S. Abdelhak, P. Sheth, M.F. Bachelot, P. Burlet, A. Marcadet, J. Aicardi, A. Borois, J.P. Carriere, M. Fardeau et al. 1990. Gene for chronic proximal spinal muscular atrophies maps to chromosome Sq. Nature 344: 767-768.
65. Melki, J., S. Lefebvre, L. Burglen, P. Burlet, O. Clemont, P. Millasseau, S. Reboullet, B. Benichou, M. Zeviani, D. Le Paslier et al. 1994. De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science 264: 1474-1477.
66. Meyer, U.A., U.M. Zanger, D. Grant, and M. Blum. 1990. Genetic polymorphism of drug metabolism. Adv. Drug Res. 19: 197-241.
67. Mita, S., R. Rizzuto, C.T. Moraes, S. Shanske, E. Arnaudo, G.M. Fabrizi, Y. Koga, S. DiMauro, and E.A. Schon. 1990. Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA. Nucleic Acids Res. 18: 561-567.
68. Moraes, C.T., S. DiMauro, M. Zeviani, A. Lombes, S. Shanske, A.F. Miranda, H. Nakase, E. Bonilla, L.C. Wernec, S. Servidet et al. 1989. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N. Engl. J. Med. 320: 1293-1299.
69. Muller, H.J. 1964. The relation of recombination to mutational advance. Mutat. Res. 1: 2-9.
70. Nathans, J., S.L. Merbs, C.H. Sung, C.J. Weitz, and Y. Wang. 1992. Molecular genetics of human visual pigments. Annu. Rev. Genet. 26: 403-424.
71. Naylor, J., A. Brinke, S. Hassock, P.M. Green, and F. Giannelli. 1993. Characteristic mRNA abnormality found in half the patients with severe hemophilia A is due to large DNA inversions. Hum. Mol. Genet. 2: 1773-1778.
72. Naylor, J.A., D. Buck, P. Green, H. Williamson, D. Bentley, and F. Giannelli. 1995. Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions. Hum. Mol. Genet. 4: 1217-1224.
73. Nebert, D.W. and F.J. Gonzalez. 1987. P450 genes: Structure, evolution and regulation. Annu. Rev. Biochem. 56: 945-993.
74. Nebert, D.W., D.R. Nelson, M.J. Coon, R.W. Estabrook, R. Feyereisen, Y. Fukii-Kuriyama, F.J. Gonzalez, F.P. Guengerich, I.C. Gunsalus, E.F. Johnson et al. 1991. The P450 superfamily: Update on new sequences, gene mapping and recommended nomenclature. DNA 10: 1-14.
75. Neitz, M. and J. Neitz. 1995. Numbers and ratios of visual pigment genes for normal red-green color vision. Science 267: 1013-1016.
76. Nickerson, E., F. Greenberg, M.T. Keating, C. McCaskill, and L.G. Shaffer. 1995. Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome. Am. J. Hum. Genet. 56: 1156-1161.
77. Ohno, S. 1970. Evolution by gene duplication. Springer-Verlag, New York, NY.
78. OMIM, Online Mendelian Inheritance in Man. Center for Medical Genetics, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), 1997. http://www.ncbi.nlm.nih.gov/omim/.
79. Orkin, S.H. and H.H. Kazazian. 1984. The mutation and polymorphism of the human β-globin gene and its surrounding DNA. Annu. Rev. Genet. 18: 131-171.
80. Osborne, L.R., D. Duane Martindale, S.W. Scherer, X.-M. Shi, J. Huizenga, H.H.Q. Heng, T. Costa, B. Pober, L. Lew, J. Brinkman, J.M. Rommens, B. Koop, and L.-C. Tsui. 1996. Identification of genes from a 500 kb region at 7q11.23 that is commonly deleted in Williams syndrome. Genomics 36: 328-336.
81. Pearn, J. 1980. Classification of spinal muscular atrophies. Lancet 1: 919-922.
82. Pennisi, E. 1998. Genome research: Sifting through and making sense of genome sequences. Science 280: 1692-1693.
83. Pentao, L., CA. Wise, A.C. Chinault, P.I. Patel, and J.R. Lupski. 1992. Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nat. Genet. 2: 292-300.
84. Perez-Jurado, L.A., Y.K. Wang, R. Peoples, A. Coloma, J. Cruces, and U.A. Francke. 1998. A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK. Hum. Mol. Genet. 7: 325-334.
85. Pilia, G., R.M. Hughes-Benzie, A. MacKenzie, P. Baybayan, E.Y. Chen, R. Huber, G. Neri, A. Cao, A. Forabosco, and D. Schlessinger. 1996. Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome. Nat. Genet. 12: 241-247.
86. Porta, G., S. MacMillan, R. Nagaraja, S. Mumm, I. Zucchi, G. Pilia, S. Maio, T. Featherstone, and D. Schlessinger. 1997. 4.5 Mb YAC/STS contig at 50 kb resolution, spanning Xq25 deletions in two patients with lymphoproliferative syndrome (LYP). Genome Res. 7: 27-36.
87. Rice, W.R. 1987. Genetic hitchhiking and the evolution of reduced genetic activity of the Y sex chromosome. Genetics 116: 161-167.
88. Rogner, U.C., K. Wilke, E. Steck, B. Korn, and A. Poustka. 1995. The melanoma antigen gene (MAGE) family is clustered in the chromosomal band Xq28. Genomics 29: 725-731.
89. Roy, N., M.S. Mahadevan, M. McLean, G. Shutler, Z. Yaraghi, R. Farahani, S. Baird, A. Besner-Johnston, C. Lefebvre, X. Kang et al. 1995. The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell 80: 167-178.
90. Schiavon, F., M.L. Mostacciuolo, F. Saad, L. Merlini, G. Siciliano, C. Angelini, and G.A. Danieli. 1994. Non-radioactive detection of 17p11.2 duplication in CMT1A: A study of 78 patients. J. Med. Genet. 31: 880-883.
91. Schon, E.A., R. Rizzuto, C.T. Moraes, H. Nakase, M. Zeviani, and S. DiMauro. 1989. A direct repeat is a hotspot for large-scale deletions of human mitochondrial DNA. Science 244: 346-349.
92. Shapiro, L.J., P. Yen, D. Pomerantz, E. Martin, L. Rolewic, and T. Mohandas. 1989. Molecular studies of deletions at the human steroid sulfatase locus. Proc. Natl. Acad. Sci. 86: 8477-8481.
93. Sirotkin, H., B. Morrow, B. Saint-Jore, A. Puech, R. Das Gupta, S.R. Patanjali, A. Skoultchi, S.M. Weissman, and R. Kucherlapti. 1997. Identification, characterization, and precise mapping of a human gene encoding a novel membrane-spanning protein from the 22q11 region deleted in Velo-Cardio-Facial syndrome. Genomics 42: 245-251.
94. Skoda, R.C., F.J. Gonzalez, A. Demierre, and U.A. Meyer. 1988. Two mutant alleles of the human cytochrome P450db1 gene (P450IID1) associated with genetically deficient metabolism of debrisoquine and other drugs. Proc. Nati. Acad. Sci. 85: 5240-5243.
95. Small, K., J. Iber, and S. Warren. 1997. Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats. Nat. Genet. 16: 96-99.
96. Speed, R.M. 1988. The possible role of meiotic pairing anomalies in the atresia of human fetal oocytes. Hum. Genet. 78: 260-266.
97. Srivastava, A.K. and D. Schlessinger. 1991. Structure and organization of ribosomal DNA. Biochimie 73: 631-638.
98. Sullivan, J.L., K.S. Byron, F.E. Brewster, and D.T. Purtilo. 1980. Deficient natural killer cell activity in X-linked lymphoproliferative syndrome. Science 210: 543-545.
99. Thompson, T.G., C.J. DiDonato, L.R. Simard, S.E. Ingraham, A.H.M. Burghes, T.O. Crawford, C. Rochette, J.R. Mendell, and J.J. Wasmuth. 1995. A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients. Nat. Genet. 9: 56-62.
100. Timms, K.M., F. Lu, Y. Shen, C.A. Pierson, D.M. Muzny, Y. Gu, D.L. Nelson, and R.A. Gibbs. 1995. 130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus. Genome Res. 5: 71-78.
101. Timms, K.M., M.-L. Bondeson, M.A. Ansari-Lari, K. Lagerstedt, D.M. Muzny, S.P. Dugan-Rocha, D.L. Nelson, U. Pettersson, and R.A. Gibbs. 1997. Molecular and phenotypic variation in patients with severe Hunter syndrome. Hum. Mol. Genet. 6: 479-486.
102. Tuddenham, E.G., R. Schwaab, J. Seehafer, D.S. Millar, J. Gitschier, M. Higuchi, S. Bidichandani, J.M. Connor, L.W. Hoyer, A. Yoshioka et al. 1994. Hemophilia A: Database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition. Nucleic Acids Res. 22: 3511-3533 (corrected: Nucleic Acids Res. 22: 4851-4868).
103. Tsuji, S., P.V. Choudary, B.M. Martin, B.K. Stubblefield, J.A. Mayor, J.A. Barranger, and E.I. Ginns. 1987. A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease. N. Engl. J. Med. 316: 570-575.
104. Upadhyaya, M., P.W. Lunt, M. Sarfarazi, W. Broadhead, J. Daniels, M. Owen, and P.S. Harper. 1991. A closely linked DNA marker for facioscapulohumeral disease on chromosome 4q. J. Med. Genet. 28: 665-671.
105. van der Bruggen, P., C. Traversari, P. Chomez, C. Lurquin, E. De Plaen, B. Van den Eynde, A. Knuth, and T. Boon. 1991. A gene encoding an antigen recognized by cytolytic T lymphocytes on a human melanoma. Science 254: 1643-1647.
106. van der Steege, G., P.M. Grootscholten, P. van der Vlies, T.G. Draaijers, J. Osinga, J.M. Cobben, H. Scheffer, and C.H.C.M. Buys. 1995. PCR-based DNA test to confirm clinical diagnosis of autosomal recessives spinal muscular atrophy. Lancet 345: 985-986.
107. van Deutekom, J.C.T., C. Wijmenga, E.A.E. Van Tienhoven, A-M. Gruter, J.E. Hewitt, G.W. Padberg, G-J. Van Ommen, M.H. Hofker, and R.R. Frants. 1993. FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum. Mol. Genet. 2: 2037-2042.
108. van Deutekom, J.C.T., R.J.L.F. Lemmers, P.K. Grewal, M. van Geel, S. Romberg, H.G. Dauwerse, T.J. Wright, G.W. Padberg, M.H. Hofker, J.E. Hewitt, and R.R. Frants. 1996. Identification of the first gene (FRG1) from the FSHS region on human chromosome 4q35. Hum. Mol. Genet. 5: 581-590.
109. Vollrath, D., J. Nathans, and R.W. Davis. 1988. Tandem array of human visual pigment genes at Xq28. Science 240: 1669-1672.
110. Watanabe, K., H. Yamada, and Y. Yamaguchi. 1995. K-glypican: A novel GPI-anchored heparan sulfate proteoglycan that is highly expressed in developing brain and kidney. J. Cell Biol. 130: 1207-1218.
111. Werkmeister, J.W., M.I. New, B. Dupont, and P.C. White. 1986. Frequent deletion and duplication of the steroid 21-hydroxylase genes. Am. J. Hum. Genet. 39: 461-469.
112. White, P.C., D. Growwberger, B.J. Onufer, D.D. Chaplin, M.I. New, B. Dupont, and J.L. Strominger. 1985. Two genes encoding steroid 21-hydroxylase are located near the fourth component of complement. Proc. Natl. Acad. Sci. 81: 1089-1093.
113. Wijemenga, C., R.R. Frants, O.F. Brouwer, P. Moerer, J.L. Weber, and G.W. Padberg. 1990. Location of facioscapulohumeral dystrophy and the scapuloperoneal syndrome. Lancet 336: 651-653.
114. Wilkie, A.O., D.R. Higgs, K.A. Rack, V.J. Buckle, N.K. Spurr, N. Fischel-Ghodsian, I. Ceccherini, W.R.A. Brown, and P.C. Harris. 1991. Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16. Cell 64: 595-606.
115. Winfield, S.L., N. Tayebi, B.M. Martin, E.I.Ginns, and E. Sidransky. 1997. Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: Implications for Gaucher disease. Genome Res. 7: 1020-1026.
116. Wirth, B., E. Hahnen, K. Morgan, C.J. DiDonato, A. Dadze, S. Rudnik-Schoneborn, L.R. Simard, K. Zerres, and A.H.M. Burghes. 1995. Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: Association of marker genotype with disease severity and candidate cDNAs. Hum. Mol. Genet. 4: 1273-1284.
117. Woodward, K., E. Kendall, D. Vetrie, and S. Malcom. 1998. Pelizaeus-Merzbacher disease: Identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH. Am. J. Hum. Genet. 63: 207-217.
118. Yen, P.H., X.-M. Li, S.-P. Tsai., C. Johnson, T. Mohandas, and L.J. Shapiro. 1990. Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements. Cell 61: 603-610.
119. Young, I.D. and P.S. Harper. 1982. Incidence of Hunter's syndrome. Hum. Genet. 60: 391-392.
120. Zeviani, M., CT. Moraes, S. DiMauro, H. Nakase, E. Bonilla, E.A. Schon, and L.P. Rowland. 1988. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 38: 1339-1346.
121. Zimran, A., J. Sorge, E. Gross, M. Kubitz, C. West, and E. Beutler. 1990. A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder. J. Clin. Invest. 85: 219-222.