Gene expression patterns in cell lines from patients with 18q- syndrome

Human Genetics

Volumn 104, Issue 6, 1999, Pages 467-475

  Wang, Zhiqiang ^a,b   Cody, Jannine D ^a   Leach, Robin J ^a   O'Connell, Peter ^b  

^a University of Texas Health Science Center   (United States)

^b UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; TRANSCRIPTION FACTOR;

ARTICLE; CHROMOSOME 18Q; CHROMOSOME DELETION; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE DOSAGE; GENE EXPRESSION; GENE EXPRESSION REGULATION; HUMAN; HUMAN CELL; LYMPHOBLASTOID CELL LINE; MALE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

EUKARYOTA;

EID: 0032793057     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050989     Document Type: Article

References (42)

1. Banerji SS, Parsons JN, Tocci MJ (1991) The immunosuppressant FK506 specifically inhibits mitogen-induced activation of the IL-2 promoter and the isolated enhancer elements NFIL-2A and NFAT1. Mol Cell Biol 11:4047-4087
2. Bedecs K, Berthold M, Bartfai T (1995) Galanin: 10 years with a neuroendocrine peptide. Int J Biochem Cell Biol 27:337-349
3. Birchler JA (1981) The genetic basis of dosage compensation of alcohol dehydrogenase-1 in maize. Genetics 97:625-637
4. Chudley AE, Kovnats S, Ray M (1992) Recognizable behavioral and somatic phenotype in patients with proximal interstitial 18q deletion: report on a new affected child and follow-up on the original reported familial cases. Am J Med Genet 43:535-538
5. Cody JD, Hale DE, Brkanac Z, Kaye CI, Leach RJ (1997a) Growth hormone insufficiency associated with haploinsufficiency. Am J Med Genet 71:420-425
6. Cody JD, Pierce FP, Brkanac Z, Plaetke R, Ghidoni PD, Kaye CI, Leach RJ (1997b) Preferential loss of the paternal alleles in the 18q-syndrome. Am J Med Genet 69:280-286
7. Danesino C, D'Azzo A, Maraschio P, Fraccaro M (1978) The gene for human peptidase A is on band 18q23 and shows triplex and uniplex dosage effect. Hum Genet 43:299-305
8. Donlon TA (1988) Similar molecular deletions on chromosome 12q11.2 are encountered in both the Prader-Willi and Angelman syndromes. Hum Genet 80:322-328
9. Epstein CJ (1986) Consequences of chromosome imbalance. Principals, mechanisms, and models. Cambridge University Press, New York, pp 65-82
10. Fisher E, Scambler P (1994) Human haploinsufficiency - one for sorrow, two for joy. Nat Genet 7:5-7
11. Fobes JF (1980) Trisomic analysis of isozymic loci in tomato species: segregation and dosage effects, Biochem Genet 18: 401-421
12. Forsdyke DR (1994) Relationship of X chromosome dosage compensation to intracellular self/non-self discrimination: a resolution of Muller's paradox? J Theor Biol 167:7-12
13. Forsdyke DR (1995) Fine tuning of intracellular protein concentration, a collective protein function involved in aneuploid lethality, sex determination and speciation. J Theor Biol 172: 335-345
14. Gay CT, Hardies LJ, Rauch RA, Lancaster JL, Plaetke R, Dupont BR, Cody JD, Cornell JE, Herndon RC, Ghidoni PD, Schiff JM, Kaye CI, Leach RJ, Fox PT (1997) Magnetic resonance imaging demonstrates incomplete myelination in the 18q-syndrome: evidence for myelin basic protein haploinsufficiency. Am J Med Genet 74:422-431
15. Goldberger RF (1974) Autogenous regulation of gene expression. Science 183:810-816
16. Grouchy J de, Royer P, Salmon C, Lamy M (1964) Deletion partielle des bras longs du chromosome 18. Pathol Biol 12:579-582
17. Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, Marc S, Bernardi G, Lathrop M, Weissenbach J (1994) The 1993-1994 Genethon human genetic linkage map. Nat Genet 7:246-249
18. Hecht F (1969) IgA and partial deletions of chromosome 18. Lancet 1:100
19. Holtzman DM, Bayney RM, Li Y, Khosrovi H, Berger CN, Epstein CJ, Mobley WC (1992) Deregulation of gene expression in mouse trisomy 16, an animal model for Down syndrome. EMBO J 11:619-627
20. Junien C, Huerre C, Retheore MO (1983) Direct gene dosage determination in patients with unbalanced chromosomal aberrations using cloned DNA sequences. Am J Hum Genet 35: 584-591
21. Kacser H, Burns JA (1981) The molecular basis of dominance. Genetics 97:639-666
22. Krasikov N, Thompson K, Sekhon GS (1992) Monosomy 18q12.1-21.1: a recognizable aneuploidy syndrome? Report of a patient and review of the literature. Am J Med Genet 43:531-534
23. Lewkonia RM, Lin CC, Haslam RHA (1980) Selective IgA deficiency with 18q+ and 18q-karyotypic anomalies. J Med Genet 17:453-456
24. Loughna S, Bennett P, Moore G (1995) Molecular analysis of the expression of transthyretin in intestine and liver from trisomy 18 fetuses. Hum Genet 95:89-95
25. Magness ST, Tugores A, Christensen SR, Wagner-Mcpherson C, Evans GA, Naylor EW, Brenner DA (1994) Deletion of the ferrochelatase gene in a patient with protoporpyria. Hum Mol Genet 3:1695-1697
26. Maniatis T, Fritsch EF, Sambrook J (1989) Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory, Cold Spring Harbor, NY
27. Matthieu JM (1993) An introduction to the molecular basis of inherited myelin disease. J Inner Metab Dis 16:724-732
28. Muller HJ (1948) Evidence on the precision of genetic adaptation. Harvey Lect 43:165-229
29. Nakayama K, Nakayama K, Negishi I, Kuida K, Sawa H, Loh DY (1994) Targeted disruption of Bcl-2-alpha-beta in mice: occurrence of gray hair, polycystic kidney disease, and lymphocytopenia. Proc Natl Acad Sci USA 91:3700-3704
30. Nicholl J, Kofler B, Sutherland GR, Shine J, Iismaa TP (1995) Assignment of the gene encoding human galanin receptor (GALNR) to 18q23 by in situ hybridization. Genomics 30: 629-630
31. Northrop JP, Ho SN, Chen L, Thomas DJ, Timmerman LA, Nolan GP, Admon A, Crabtree GR (1994) NF-AT components define a family of transcription factors targeted in T cell activation. Nature 369:497-502
32. Osley MA, Hereford LM (1981) Yeast histone genes show dosage compensation. Cell 24:377-384
33. Pegoraro L, Palumbo A, Erikson J, Falda M, Giovanazzo B, Emanuel BS, Rovera G, Nowell PC, Croce CM (1984) A 14;18 and an 8;14 chromosome translocation in a cell line derived from an acute B-cell leukemia. Proc Natl Acad Sci USA 81:7166-7170
34. Saxe DF, Takahashi N, Hood L, Simon MI (1985) Localization of the human myelin basic protein gene (MBP) to region 18q22-qter by in situ hybridization. Cytogenet Cell Genet 39:246-249
35. Schuler GD, Boguski MS, Stewart EA, Stein LD, Gyapay G, Rice K, White RE, et al (1996) A gene map of the human genome. Science 274:540-546
36. Stewart JM, Go S, Ellis E, Robinson A (1970) Absent IgA and deletions of chromosome 18. J Med Genet 7:11-19
37. Strathdee G, Zackai EH, Shapiro R, Kamholz J, Overhauser J (1995) Analysis of clinical variation seen in patients with 18q terminal deletions. Am J Med Genet 59:476-483
38. Tsujimoto Y, Finger LR, Yunis J, Nowell PC, Croce CM (1985) Cloning of the chromosome breakpoint of neoplastic B cells with the t(14;18) chromosome translocation. Science 226: 1097-1099
39. Venkataraman L, Francis DA, Wang Z, Liu J, Rothstein TL, Sen R (1994) Cyclosporin-A sensitive induction of NF-AT in murine B cells. Immunity 1:189-196
40. Vogel F (1973) Genotype and phenotype in human chromosome aberrations and in minute mutants of Drosophila melanogaster. Hum Genet 19:41-56
41. Wilkie AOM (1994) The molecular basis of genetic dominance. J Med Genet 31:89-98
42. Wilson MG, Towner JW, Forsman I, Siris E (1979) Syndromes associated with deletion of the long arm of chromosome 18[del(18q)]. Am J Med Genet 3:155-174