The organization of the γ-glutamyl transferase genes and other low copy repeats in human chromosome 22q11

Genome Research

Volumn 7, Issue 5, 1997, Pages 522-531

  Collins, John E ^a   Mungall, Andrew J ^a   Badcock, Karen L ^a   Fay, Joanne M ^a   Dunham, Lan ^a  

^a WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GAMMA GLUTAMYLTRANSFERASE;

ARTICLE; CHROMOSOME 22Q; CHROMOSOME MAP; CONTROLLED STUDY; DNA DETERMINATION; DNA FINGERPRINTING; DNA SEQUENCE; GENE LOCUS; GENE MAPPING; GENE SEQUENCE; HUMAN; HUMAN CELL; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION MAPPING; YEAST ARTIFICIAL CHROMOSOME;

EID: 0030950736     PISSN: 10889051     EISSN: None     Source Type: Journal    
DOI: 10.1101/gr.7.5.522     Document Type: Article

References (46)

1. Ashworth L.K., M.A. Batzer, B. Brandriff, E. Branscomb, P. de Jong, E. Garcia, J.A. Garnes, L.A. Gordon, J.E. Lamerdin, G. Lennon, H. Mohrenweiser, A.S. Olsen, T. Slezak, and A.V. Carrano. 1995. An integrated metric physical map of human chromosome 19. Nature Genet. 11: 422-427.
2. Bardoni, B., S. Guioli, E. Raimondi, R. Heilig, J.L. Mandel, S. Ottolenghi, and G. Camerino. 1988. Isolation and characterization of a family of sequences dispersed on the human X chromosome. Genomics 3: 32-38.
3. Bauer, S.R., K. Huebner, M. Budarf, J. Finan, J. Erikson, B.S. Emanuel, P.C. Nowell, C.M. Croce, and F. Melchers. 1988. The human Vpre B gene is located on chromosome 22 near a cluster of V lambda gene segments. Immunogenetics 28: 328-333.
4. Bauer, T.R., Jr., H.E. McDermid, M.L. Budarf, M.L. Van Keuren, and B.B. Blomberg. 1993. Physical location of the human immunoglobulin lambda-like genes, 14.1, 16.1, and 16.2. Immunogenetics 38: 387-399.
5. Bentley, D.R., C. Todd, J. Collins, J. Holland, I. Dunham, S. Hassock, A. Bankier, and F. Giannelli. 1992. The development and application of automated gridding for efficient screening of yeast and bacterial ordered libraries. Genomics 12: 534-541.
6. Britten, R.J. and D.E. Kohne. 1968. Repeated sequences in DNA. Hundreds of thousands of copies of DNA sequences have been incorporated into the genomes of higher organisms. Science 161: 529-540.
7. Buetow, K.H., J.L. Weber, S. Ludwigsen, T. Scherpbier Heddema, G.M. Duyk, V.C. Sheffield, Z. Wang, and J.C. Murray. 1994. Integrated human genome-wide maps constructed using the CEPH reference panel. Nature Genet. 6: 391-393.
8. Bulle, F., M.G. Mattei, S. Siegrist, A. Pawlak, E. Passage, M.N. Chobert, Y. Laperche, and G. Guellaen. 1987. Assignment of the human gamma-glutamyl transferase gene to the long arm of chromosome 22. Hum. Genet. 76: 283-286.
9. Carlbom, E., N. Sugawa, C. Larsson, P.J. Scambler, J.P. Dumanski, V.P. Collins, and M. Nordenskjold. 1991. Identification of twelve new RFLP-markers on chromosome 22q11-qter. Hum. Genet. 88: 135-138.
10. Chang, H., E. Dmitrovsky, P.A. Hieter, K. Mitchell, P. Leder, L. Turoczi, I. R. Kirsch, and G.F. Hollis. 1986. Identification of three new Ig lambda-like genes in man. J. Exp. Med. 163: 425-435.
11. Chumakov, I.M., P. Rigault, I. Le Gall, C. Bellanné-Chantelot, A. Billault, S. Guillou, P. Soularue, G. Guasconi, E. Poullier, I. Gros et al. 1995. A YAC contig map of the human genome. Nature 377: 175-298.
12. Collins, J.E., L.A. Everett, D.R. Bentley, and I. Dunham. 1992. A panel of human chromosome 22-specific sequence tagged sites. Genomics 14: 1098-1103.
13. Collins, J.E., C.G. Cole, L.J. Smink, C.L. Garrett, M.A. Leversha, C.A. Soderlund, G.L. Maslen, L.A. Everett, K.M. Rice, A.J. Coffey et al. 1995. A high-density YAC contig map of human chromosome 22. Nature 377: 367-379.
14. Coulson, A., J. Sulston, S. Brenner, and J. Karn. 1986. Towards a physical map of the genome of the nematode C. elegans. Proc. Natl. Acad. Sci. 83: 7821-7825.
15. Courtay, C., N. Heisterkamp, G. Siest, and J. Groffen. 1994. Expression of multiple gamma-glutamyltransferase genes in man. Biochem. J. 297: 503-508.
16. Croce, C.M., K. Huebner, M. Isobe, E. Fainstain, B. Lifshitz, E. Shtivelman, and E. Canaani. 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. 84: 4-8.
17. Doggett, N.A., L.A. Goodwin, J.G. Tesmer, L.J. Meincke, D.C. Bruce, L.M. Clark, M.R. Alther, A.A Ford, H.-C. Chi, B.L. Marrone et al. 1995. An integrated physical map of human chromosome 16. Nature (Suppl.) 377: 335-364.
18. Dumanski, J.P., E. Carlbom, V.P. Collins, M. Nordenskjold, B.S. Emanuel, M.L. Budarf, H.E. McDermid, R. Wolff, P. O'Connell, R. White et al. 1991. A map of 22 loci on human chromosome 22. Genomics 11: 709-719.
19. Figlewicz, D.A., O. Delattre, G. Guellaen, A. Krizus, G. Thomas, J. Zucman, and G.A. Rouleau. 1993. Mapping of human gamma-glutamyl transpeptidase genes on chromosome 22 and other human autosomes. Genomics 17: 299-305.
20. Frippiat, J.P., S.C. Williams, I.M. Tomlinson, G.P. Cook, D. Cherif, D. Le-Paslier, J.E. Collins, I. Dunham, G. Winter, and M.-P. Lefranc. 1995. Organization of the human immunoglobin lambda light-chain locus on chromosome 22q11.2. Hum. Mol. Genet. 4: 983-991.
21. Germino, G.G., D. Weinstat Saslow, H. Himmelbauer, G.A. Gillespie, S. Somlo, B. Wirth, N. Barton, K.L. Harris, A.M. Frischauf, and S.T. Reeders. 1992. The gene for autosomal dominant polycystic kidney disease lies in a 750-kb CpG-rich region. Genomics 13: 144-151.
22. Goodspeed, D.C., T.J. Dunn, C.D. Miller, and H.C. Pitot. 1989. Human gamma-glutamyl transpeptidase cDNA: Comparison of hepatoma and kidney mRNA in the human and rat. Gene 76: 1-9.
23. 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.
24. Heisterkamp, N. and J. Groffen. 1988. Duplication of the bcr and gamma-glutamyl transpeptidase genes. Nucleic Acids Res. 16: 8045-8056.
25. Hodgson, C.P. and R.Z. Fisk. 1987. Hybridization probe size control: Optimized "oligolabelling." Nucleic Acids Res. 15: 6295.
26. Hudson T.J., L.D. Stein, S.S. Gerety, J. Ma, A.B. Castle, J. Silva, O.K. Slonim, R. Baptista, L. Kruglyak, S.-H. Zu, X. Hu et al. 1995. An STS-based map of the human genome. Science 270: 1945-1954.
27. Kim, U.J., H. Shizuya, P.J. de Jong, B. Birren, and M.I. Simon. 1992. Stable propagation of cosmid sized human DNA inserts in an F factor based vector. Nucleic Acids Res. 20: 1083-1085.
28. Lakich, D., H.H. Kazazian, Jr., S.E. Antonarakis, and J. Gitschier. 1993. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nature Genet. 5: 236-241.
29. Li, X.M., P.H. Yen, and L.J. Shapiro. 1992. 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.
30. Lindsay, E.A., S. Halford, R. Wadey, P.J. Scambler, and A. Baldini. 1993. Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization. Genomics 17: 403-407.
31. Naylor, J., A. Brinke, S. Hassock, P.M. Green, and F. Giannelli. 1993. Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions. Hum. Mol. Genet. 2: 1773-1778.
32. Neil, D.L., A. Villasante, R.B. Fisher, D. Vetrie, B. Cox, and C. Tyler Smith. 1990. Structural instability of human tandemly repeated DNA sequences cloned in yeast artificial chromosome vectors. Nucleic Acids Res. 18: 1421-1428.
33. Ngo, K.Y., G. Vergnaud, C. Johnsson, G. Lucotte, and J. Weissenbach. 1986. A DNA probe detecting multiple haplotypes of the human Y chromosome. Am. J. Hum. Genet. 38: 407-418.
34. Olsen, A., S. Teglund, D. Nelson, L. Gordon, A. Copeland, A. Georgescu, A. Carrano, and S. Hammarstrom. 1994. Gene organization of the pregnancy-specific glycoprotein region on human chromosome 19: Assembly and analysis of a 700-kb cosmid contig spanning the region. Genomics 23: 659-668.
35. Pawlak, A., O. Lahuna, F. Bulle, A. Suzuki, N. Ferry, S. Siegrist, N. Chikhi, M. N. Chobert, G. Guellaen, and Y. Laperche. 1988. Gamma-glutamyl transpeptidase: A single copy gene in the rat and a multigene family in the human genome. J. Biol. Chem. 263: 9913-9916.
36. Pawlak, A., S.J. Wu, F. Bulle, A. Suzuki, N. Chikhi, N. Ferry, J.H. Baik, S. Siegrist, and G. Guellaen. 1989. Different gamma-glutamyl transpeptidase mRNAs are expressed in human liver and kidney. Biochem. Biophys. Res. Commun. 164: 912-918.
37. Pentao, L., C.A. 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. Nature Genet. 2: 292-300.
38. Rajpert De Meyts, E., N. Heisterkamp, and J. Groffen. 1988. Cloning and nucleotide sequence of human gamma-glutamyl transpeptidase. Proc. Natl. Acad. Sci. 85: 8840-8844.
39. Sakamuro, D., M. Yamazoe, Y. Matsuda, K. Kangawa, N. Taniguchi, H. Matsuo, H. Yoshikawa, and N. Ogasawara. 1988. The primary structure of human gamma-glutamyl transpeptidase. Gene 73: 1-9.
40. Sargent, C.A., I.J. Chalmers, M. Leversha, and N.A. Affara. 1994. A rearrangement on chromosome 5 of an expressed human beta-glucuronidase pseudogene. Mamm. Genome 5: 791-796.
41. Scambler, P.J. 1993. Deletions of human chromosome 22 and associated birth defects. Curr. Opin. Genet. Dev. 3: 432-437.
42. Schiff, C., M. Milili, and M. Fougereau. 1989. Isolation of early immunoglobulin lambda-like gene transcripts in human fetal liver. Eur. J. Immunol. 19: 1873-1878.
43. Stallings, R.L., N.A. Doggett, K. Okumura, and D.C. Ward. 1992. Chromosome 16-specific repetitive DNA sequences that map to chromosomal regions known to undergo breakage/rearrangement in leukemia cells. Genomics 13: 332-338.
44. Theodosiou, A.M., K.E. Morrison, A.M. Nesbit, R.J. Daniels, L. Campbell, M.J. Francis, Z. Christodoulou, and K.E. Davis. 1994. Complex repetitve arrangements of gene sequence in the candidate region of the spinal muscular atropy gene in 5q13. Am. J. Hum. Genet. 55 :1209-1217.
45. Thompson, T.G., K.E. Morrison, P. Kleyn, U. Bengtsson, T.C. Gilliam, K.E. Davies, J.J. Wasmuth, and J.D. McPherson. 1993. High resolution physical map of the region surrounding the spinal muscular atrophy gene. Hum. Mol. Genet. 2: 1169-1176.
46. 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.