A common molecular basis for rearrangement disorders on chromosome 22q11

Human Molecular Genetics

Volumn 8, Issue 7, 1999, Pages 1157-1167

  Edelmann, Lisa ^d   Pandita, Raj K ^d   Spiteri, Elizabeth ^d   Funke, Birgit ^d   Goldberg, Rosalie ^d   Palanisamy, Nallasivam ^a   Chaganti, R S K ^a   Magenis, Ellen ^b   Shprintzen, Robert J ^c   Morrow, Bernice E ^d  

^a MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c SUNY DOWNSTATE MEDICAL CENTER   (United States)

^d ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL CELL; ARTICLE; CHROMOSOME 22Q; CHROMOSOME BREAKAGE; CONTROLLED STUDY; DIGEORGE SYNDROME; GENE DELETION; GENE DUPLICATION; GENE REARRANGEMENT; GENE TRANSLOCATION; HAMSTER; HAPLOTYPE; HUMAN; HUMAN CELL; HYBRID CELL; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; VELOCARDIOFACIAL SYNDROME;

CHROMOSOME ABERRATIONS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 22; DIGEORGE SYNDROME; FEMALE; GENE DUPLICATION; GENE REARRANGEMENT; HUMANS; HYBRID CELLS; IN SITU HYBRIDIZATION; MALE;

EID: 0032790898     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.7.1157     Document Type: Article

References (67)

1. Nowell, P.C. and Hungerford, D.A. (1960) A minute chromosome in human chronic granulocytic leukemia. Science, 132, 1497-1499.
2. Emanuel, B.S., Selden, J.R., Wang, E., Nowell, P.C. and Croce, C.M. (1984) In situ hybridization and translocation breakpoint mapping. I. Non-identical 22q11 breakpoints for the t(9;22) of CML and the t(8;22) of Burkitt lymphoma. Cytogenet. Cell Genet., 38, 127-131.
3. Davis, M., Malcolm, S. and Rabbitts, T.H. (1984) Chromosome translocation can occur on either side of the c-myc oncogene in Burkitt lymphoma cells. Nature, 308, 286-288.
4. Schinzel, A., Schmid, W., Fraccaro, M., Tiepolo, L., Zuffardi, O., Opitz, J.M., Lindsten, J., Zetterqvist, P., Enell, H., Baccichetti, C., Tenconi, R. and Pagon, R.A. (1981) The 'cat eye syndrome': dicentric small marker chromosome probably derived from a no. 22 (tetrasomy 22pter>q11) associated with a characteristic phenotype. Hum. Genet., 57, 148-158.
5. Zackai, E.H. and Emanuel, B.S. (1980) Site-specific reciprocal translocation t(11;22)(q23;q11), in several unrelated families with 3:1 meiotic disjunction. Am. J. Med. Genet., 7, 507-521.
6. Shprintzen, R.J., Goldberg, R.B., Lewin, M.L., Sidoti, E.J., Berkman, M.D., Argamaso, R.V. and Young, D. (1978) A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. Cleft Palate J., 15, 56-62.
7. DiGeorge, A. (1965) A new concept of the cellular basis of immunity. J. Pediatr., 67, 907.
8. Emanuel, B.S., Nowell, P.C., McKeon, C., Croce, C.M. and Israel, M.A. (1986) Translocation breakpoint mapping: molecular and cytogenetic studies of chromosome 22. Cancer Genet. Cytogenet., 19, 81-92.
9. Budarf, M.L., McDermid, H.E., Sellinger, B. and Emanuel, B.S. (1991) Isolation and regional localization of 35 unique anonymous DNA markers for human chromosome 22. Genomics, 10, 996-1002.
10. Budarf, M.L., Eckman, B., Michaud, D., McDonald, T., Gavigan, S., Buetow, K.H., Tatsumura, Y., Liu, Z., Hilliard, C., Driscoll, D., Goldmuntz, E., Meese, E., Zwarthoff, E.C., Williams, S., McDermid, H., Dumanski, J.P., Biegel, J., Bell, C.J. and Emanuel, B.S. (1996) Regional localization of over 300 loci on human chromosome 22 using a somatic cell hybrid mapping panel. Genomics, 15, 275-288.
11. Mears, A.J., Duncan, A.M.V., Budarf, M.L., Emanuel, B.S., Sellinger, B., Siegel-Bartelt, J., Greenberg, C.R. and McDermid, H.E. (1994) Molecular characterization of the marker chromosome associated with cat eye syndrome. Am. J. Hum. Genet., 55, 134-142.
12. Mears, A.J., el-Shanti, H., Murray, J.C., McDermid, H.E. and Patil, S.R. (1995) Minute supernumerary ring chromosome 22 associated with cat eye syndrome: further delineation of the critical region. Am. J. Hum. Genet., 57, 667-673.
13. McTaggart, K.E., Budarf, M.L., Driscoll, D.A., Emanuel, B.S., Ferreira, P. and McDermid H.E. (1998) Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints. Cytogenet Cell Genet., 81, 222-228.
14. Fraccaro, M., Lindsten, J., Ford, C.E. and Iselius, L. (1980) The 11q;22q translocation: a European collaborative analysis of 43 cases. Hum. Genet., 56, 21-51.
15. Funke, B., Edelmann, L., McCain, N., Pandita, R., Ferreira, J., Merscher, S., Zohouri, M., Cannizzaro, L., Shanske, A. and Morrow B.E. (1999) Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5 Mb region of overlap on chromosome 22q11. Am. J. Hum Genet., 64, 747-758.
16. Burn, J. and Goodship, J. (1996) Congenital heart disease. In Rimoin, D.L., Connor, J.M. and Pyeritz, R.E. (eds), Emery and Rimoin's Principles and Practice of Medical Genetics. 3rd edn. Vol. 1, pp. 767-828.
17. Papolos, D.F., Faedda, G.L., Veit, S., Goldberg, R., Morrow, B., Kucherlapati, R. and Shprintzen, R.J. (1996) Bipolar spectrum disorders in patients diagnosed with velo-cardio-facial syndrome: does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder? Am. J. Psychiatry, 153, 1541-1547.
18. Carlson, C., Sirotkin, H., Pandita, R., Goldberg, R., McKie, J., Wadey, R., Patanjali, S.R., Weissman, S.M., Anyane-Yeboa, K., Warburton, D., Scambler, P., Shprintzen, R., Kucherlapati, R. and Morrow, B.E. (1997) Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. Am. J. Hum Genet., 61, 620-629.
19. Augusseau, S., Jouk, S., Jalbert, P. and Prieur, M. (1986) DiGeorge syndrome and 22q11 rearrangements. Hum. Genet., 74, 206.
20. Lindsay, E.A., Goldberg, R., Jurecic, V., Morrow, B., Carlson, C., Kucherlapati, R.S., Shprintzen, R.J. and Baldini, A. (1995) Velo-cardiofacial syndrome: frequency and extent of 22q11 deletions. Am. J. Med. Genet., 57, 514-522.
21. Kurahashi, H., Nakayama, T., Osugi, Y., Tsuda, E., Masuno, M., Imaizumi, K., Kamiya, T., Sano, T., Okada, S. and Nishisho, I. (1996) Deletion mapping of 22q11 in CATCH22 syndrome: identification of a second critical region. Am. J. Hum. Genet., 58, 1377-1381.
22. Levy, A., Demczuk, S., Aurias, A., Depetris, D., Mattei, M. and Philip, N. (1995) Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome. Hum. Mol. Genet., 4, 2417-2419.
23. O'Donnell, H., McKeown, C., Gould, C., Morrow, B. and Scambler, P. (1997) Detection of an atypical 22q11 deletion that has no overlap with the DiGeorge syndrome critical region. Am. J. Hum. Genet., 60, 1544-1548.
24. Holmes, S.E., Riazi, M.A., Gong, W., McDermid, H.E., Sellinger, B.T., Hua, A., Chen, F., Wang, Z., Zhang, G., Roe, B., Gonzalez, I., McDonald-McGinn, D.M., Zackai, E., Emanuel, B.S. and Budarf, M.L. (1997) Disruption of the clathrin heavy chain-like gene (CLTCL) associated with features of DGS/VCFS: a balanced (21;22)(p12;q11) translocalion. Hum. Mol. Genet., 6, 357-367.
25. Edelmann, L., Pandita, R.K. and Morrow, B.E. (1999) Low copy repeats mediate the common 3 Mb deletion in velo-cardio-facial syndrome patients on 22q11. Am. J. Hum. Genet., 64, 1076-1086.
26. Halford, S., Lindsay, E., Nayudu, M., Carey, A.H., Baldini, A. and Scambler, P.J. (1993) Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11. Hum. Mol. Genet., 2, 191-196.
27. Lindsay, E.A., Halford, S., Wadey, R., Scambler, P.J. and Baldini, A. (1993) Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization. Genomics, 17, 403-407.
28. Baumer, A., Dutly, F., Balmer, D., Riegel, M., Tukel, T., Krajewska-Walasek, M. and Schinzel, A.A. (1998) High level of unequal meiotic crossovers at the origin of the 22q11.2 and 7q11.23 deletions. Hum. Mol. Genet., 7, 887-894.
29. Morrow, B., Goldberg, R., Carlson, C., Das Gupta, R., Sirotkin, H., Collins, J., Dunham, I., O'Donnell, H., Scambler, P., Shprintzen, R. and Kucherlapati, R. (1995) Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome. Am. J. Hum. Genet., 56, 1391-1403.
30. Osoegawa, K., Woon, P.Y., Zhao, B., Frengen, E., Tateno, M., Catanese, J.J. and de Jong, P.J. (1998) An improved approach for construction of bacterial artificial chromosome libraries. Genomics, 52, 1-8.
31. Budarf, M.L., Collins, J., Gong, W., Roe, B., Wang, Z., Bailey, L.C., Sellinger, B., Michaud, D., Driscoll, D. and Emanuel, B.S. (1995) Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene. Nature Genet., 10, 269-278.
32. Demczuk, S., Aledo, R., Zucman, J., Delattre, O., Desmaze, C., Dauphinot, L., Jalbert, P., Rouleau, G.A., Thomas, G. and Aurias, A. (1995) Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity. Hum. Mol. Genet., 4, 551-558.
33. Heisterkamp, N., Rajpert-De Meyts, E., Uribe, L., Forman, H.J. and Groffen, J. (1991) Identification of a human gamma-glutamyl cleaving enzyme related to, but distinct from, gamma-glutamyl transpeptidase. Proc. Natl Acad. Sci. USA, 88, 6303-6307.
34. Figlewicz, D.A., Delattre, O., Guellaen, G., Krizus, A., Thomas, G., Zucman, J. and Rouleau, G.A. (1993) Mapping of human gamma-glutamyl transpeptidase genes on chromosome 22 and other human autosomes. Genomics, 17, 299-305.
35. Ruegg, C.L., Rivas, A., Madani, N.D., Zeitung, J., Laus, R. and Engleman, E.G. (1995) V7, a novel leukocyte surface protein that participates in T cell activation. II. Molecular cloning and characterization of the V7 gene. J. Immunol., 154, 4434-4443.
36. Soderqvist, H., Jiang, W.Q., Ringertz, N. and Hallberg, E. (1996) Formation of nuclear bodies in cells overexpressing the nuclear pore protein POM121. Exp. Cell Res., 225, 75-84.
37. Croce, C.M., Huebner, K., Isobe, M., Fainstain, E., Lifshitz, B., Shtivelman, E. and Canaani, E. (1987) Mapping of four distinct BCR-related loci to chromosome region 22q11: order of BCR loci relative to chronic myelogenous leukemia and acute lymphoblastic leukemia breakpoints. Proc. Natl Acad. Sci. USA, 84, 7174-7178.
38. Heisterkamp, N.and Groffen, J. (1988) Duplication of the bcr and gamma-glutamyl transpeptidase genes. Nucleic Acids Res., 16, 8045-8056.
39. Courtay, C., Heisterkamp, N., Siest, G. and Groffen, J. (1994) Expression of multiple gamma-glutamyltransferase genes in man. Biochem. J., 297, 503-508.
40. Collins, J.E., Mungall, A.J., Badcock, K.L., Fay, J.M. and Dunham, I. (1997) The organization of the gamma-glutamyl transferase genes and other low copy repeats in human chromosome 22q11. Genet. Res., 7, 522-531.
41. Kawasaki, K., Minoshima, S., Nakato, E., Shibuya, K., Shintani, A., Schmeits, J.L., Wang, J. and Shimizu, N. (1997) One-megabase sequence analysis of the human immunoglobulin lambda gene locus. Genome Res., 7, 250-261.
42. Rauch, A., Pfeiffer, R.A., Leipold, G., Singer, H., Tigges, M. and Hofbeck, M. (1999) A novel 22q11.2 microdeletion in DiGeorge syndrome. Am. J. Hum. Genet., 64, 658-666.
43. de Klein, A., van Kessel, A.G., Grosveld, G., Bartram, C.R., Hagemeijer, A., Bootsma, D., Spurr, N.K., Heisterkamp, N., Groffen, J. and Stephenson, J.R. (1982) A cellular oncogene is translocated to the Philadelphia chromosome in chronic myelocytic leukaemia. Nature, 300, 765-767.
44. Shtivelman, E., Lifshitz, B., Gale, R.P. and Canaani, E. (1985) Fused transcript of abl and bcr genes in chronic myelogenous leukaemia. Nature, 315, 550-554.
45. Hermans, A., Heisterkamp, N., von Linden, M., van Baal, S., Meijer, D., van der Plas, D., Wiedemann, L.M., Groffen, J., Bootsma, D. and Grosveld, G. (1987) Unique fusion of bcr and c-abl genes in Philadelphia chromosome positive acute lymphoblastic leukemia. Cell, 51, 33-40.
46. Chissoe, S.L., Bodenteich, A., Wang, Y.F., Wang, Y.P., Burian, D., Clifton, S.W., Crabtree, J., Freeman, A., Iyer, K., Jian, L., Ma, Y., McLaury, H.-J., Pan, H.-Q., Sarhan, O.H., Toth, S., Wang, Z., Zhang, G., Heisterkamp, N., Groffen, J. and Roe, B.A. (1995) Sequence and analysis of the human ABL gene, the BCR gene, and regions involved in the Philadelphia chromosomal translocation. Genomics, 1, 67-82.
47. Jeffs, A.R., Benjes, S.M., Smith, T.L., Sowerby, S.S. and Morris, C.M. (1998) The BCR gene recombines preferentially with Alu elements in complex BCR-ABL translocations of chronic myeloid leukaemia. Hum. Mol. Genet., 7, 767-776.
48. Kehrer-Sawatzki, H., Maier, C., Moschgath, E., Elgar, G. and Krone, W. (1997) The second case of a t(17;22) in a family with neurofibromatosis type 1: sequence analysis of the breakpoint regions. Hum. Genet., 99, 237-247.
49. Rhodes, C.H., Call, K.M., Budarf, M.L., Barnoski, B.L., Bell, C.J., Emanuel, B.S., Bigner, S.H., Park, J.P. and Mohandas, T.K. (1997) Molecular studies of an ependymoma-associated constitutional t(1;22) (p22;q11.2). Cytogenet. Cell Genet., 78, 247-252.
50. Lindblom, A., Sandelin, K., Iselius, L., Dumanski, J., White, I., Nordenskjold, M. and Larsson, C. (1994) Predisposition for breast cancer in carriers of constitutional translocation 11q;22q. Am. J. Hum Genet., 54, 871-876.
51. Lupski, J.R. (1998) Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet., 14, 417-422.
52. 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 disease type 1A. Cell, 66, 219-232.
53. Chance, P.F., Abbas, N., Lensch, M.W., Pentao, L., Roa, B.B., Patel, P.I. and Lupski, J.R. (1994) Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum. Mol. Genet., 3, 223-228.
54. Smith, A.C., McGavran, L., Robinson, J., Waldstein, G., Macfarlane, J., 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, 393-414.
55. Greenberg, F., Guzzetta, V., Montes de Oca-Luna, R., Magenis, R.E., Smith, A.C., Richter, S.F., Kondo, I., Dobyns, W.B., Patel, P.I. and Lupski, J.R. (1991) 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.
56. Chen, K.S., Manian, P., Koeuth, T., Potocki, L., Zhao, Q., Chinault, A.C., Lee, C.C. and Lupski, J.R. (1997) Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nature Genet., 17, 154-163.
57. Osborne, L.R., Herbrick, J.A., Greavette, T., Heng, H.H., Tsui, L.C. and Scherer, S.W. (1997) PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7. Genomics, 45, 402-406.
58. Perez Jurado, L.A., Wang, Y.K., Peoples, R., Coloma, A., Cruces, J. and Francke, U. (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.
59. Carrozzo, R., Rossi, E., Christian, S.L., Kittikamron, K., Livieri, C., Corrias, A., Pucci, L., Fois, A., Simi, P., Bosio, L., Beccaria, L., Zuffardi, O. and Ledbetter, D.H. (1997) Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome. Am. J. Hum. Genet., 61, 228-231.
60. Wandstrat, A.E., Leana-Cox, J., Jenkins, L. and Schwartz, S. (1998) Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15. Am. J. Hum. Genet., 62, 925-936.
61. Pentao, L., Wise, C.A., Chinault, A.C., Patel, P.I. and Lupski, J.R. (1992) 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.
62. Reiter, L.T., Murakami, T., Koeuth, T., Pentao, L., Muzny, D.M., Gibbs, R.A. and Lupski, J.R. (1996) A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposonlike element. Nature Genet., 12, 288-297.
63. Jacobson, J.W., Medhora, M.M. and Hartl, D.L. (1986) Molecular structure of a somatically unstable transposable element in Drosophila. Proc. Natl Acad. Sci. USA, 83, 8684-8688.
64. Reiter, L.T., Hastings, P.J., Nelis, E., De Jonghe, P., Van Broeckhoven, C. and Lupski, J.R. (1998) Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients. Am. J. Hum. Genet., 62, 1023-1033.
65. Liskay, R.M. and Stachelek, J.L. (1986) Information transfer between duplicated chromosomal sequences in mammalian cells involves contiguous regions of DNA. Proc. Natl Acad. Sci. USA, 83, 1802-1806.
66. Waldman, A.S. and Liskay, R.M. (1988) Dependence of intrachromosomal recombination in mammalian cells on uninterrupted homology. Mol. Cell. Biol., 8, 5350-5357.
67. Rao, P.H., Murty, V.V.V.S., Gaidano, G., Hauptschein, R., Dalla-Favera, R. and Chaganti, R.S.K. (1993) Subregional localization of 20 single-copy loci to chromosome 6 by fluorescence in situ hybridization. Genomics, 16, 426-430.