Disrtruption of a novel imprinted zinc-finger gene, ZNF215, in Beckwith- Wiedemann syndrome

American Journal of Human Genetics

Volumn 66, Issue 5, 2000, Pages 1473-1484

  Alders, M ^a   Ryan, A ^b   Hodges, M ^b   Bliek, J ^a   Feinberg, A P ^c   Privitera, O ^d   Westerveld, A ^a   Little, P F R ^b   Mannens, M M A M ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b IMPERIAL COLLEGE LONDON   (United Kingdom)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d Azienda Ospedaliera di Legnano   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; ZINC FINGER PROTEIN; COMPLEMENTARY RNA; DNA BINDING PROTEIN; MESSENGER RNA; ZNF214 PROTEIN, HUMAN; ZNF215 PROTEIN, HUMAN;

ARTICLE; BECKWITH WIEDEMANN SYNDROME; CHROMOSOME 11P; DNA SEQUENCE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DISRUPTION; GENE ISOLATION; GENE MUTATION; GENE REARRANGEMENT; GENOME IMPRINTING; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; TISSUE SPECIFICITY; ALLELE; ALTERNATIVE RNA SPLICING; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANTIBODY SPECIFICITY; CELL LINE; CHEMISTRY; CHROMOSOME 11; CHROMOSOME BREAKAGE; CONTIG MAPPING; FEMALE; FETUS; GENETICS; MALE; METABOLISM; MOLECULAR GENETICS; SINGLE STRAND CONFORMATION POLYMORPHISM;

ALLELES; ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BECKWITH-WIEDEMANN SYNDROME; CELL LINE; CHROMOSOME BREAKAGE; CHROMOSOMES, HUMAN, PAIR 11; CLONING, MOLECULAR; CONTIG MAPPING; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; FETUS; GENOMIC IMPRINTING; HUMANS; MALE; MOLECULAR SEQUENCE DATA; ORGAN SPECIFICITY; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RNA, ANTISENSE; RNA, MESSENGER; ZINC FINGERS;

EID: 0034183204     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302892     Document Type: Article

References (33)

1. Brown KW, Villar AJ, Bickmore W, Clayton-Smith J, Catchpoole D, Maher ER, Reik W (1996) Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway. Hum Mol Genet 5:2027-2032
2. DeBaun MR, Tucker M (1998) Risk of cancer during the first four years of life in children from the Beckwith-Wiedemann Syndrome Registry. J Pediatr 132:398-400
3. Eggenschwiler J, Ludwig T, Fisher P, Leighton PA, Tilghman SM, Efstratiadis A (1997) Mouse mutant embryos overexpressing Igf-II exhibit phenotypic features of the Beckwith-Wiedemann and Simpson-Golabi-Behmel-Syndromes. Genes Dev 11:3128-3142
4. Fidlerova H, Senger G, Kost M, Sanseau P, Sheer D (1994) Two simple procedures for releasing chromatin from routinely fixed cells for fluorescence in situ hybridization. Cytogenet Cell Genet 65:203-205
5. Fujimoto S, Araki K, Chisaki O, Araki M, Takagi K, Yamamura K (1998) Analysis of the murine hoxa-9 cDNA: an alternatively spliced transcript encodes a truncated protein lacking the homeodomain. Gene 209:77-85
6. KIP2 is mutated in Beckwith-Wiedemann syndrome. Nat Genet 14:171-173
7. Hong YS, Kim SY, Bhattacharya A, Pratt DR, Hong WK, Tainsky M (1995) Structure and function of the HOX A1 human homeobox gene cDNA. Gene 159:209-214
8. Hoovers JM, Kalikin LM, Johnson LA, Alders M, Redeker B, Law DJ, Bliek J, et al (1995) Multiple genetic loci within 11p15 defined by Beckwith-Wiedemann syndrome rearrangement breakpoints and subchromosomal transferable fragments. Proc Natl Acad Sci USA 92:12456-12460
9. Hoovers JM, Mannens M, John R, Bliek J, van Heyningen V, Porteous DJ, Leschot NJ, et al (1992) High-resolution localization of 69 potential human zinc-finger protein genes: a number are clustered. Genomics 12:254-263
10. Ivens AC, Little PFR (1994) Cosmid clones and their application to genome studies. In: Glover D (ed) DNA cloning - complex genomes: a practical approach. IRL Press, Oxford, pp 1-47
11. Joyce JA, Lam WK, Catchpoole DJ, Jenks P, Reik W, Maher ER, Schofield PN (1997) Imprinting ofIGF2 and H19 - lack of reciprocity in sporadic Beckwith-Wiedemann-Syndrome. Hum Mol Genet 6:1543-1548
12. Koufos A, Grundy P, Morgan K, Aleck KA, HadroT, Lampkin BC, Kalbakji A, et al (1989) Familial Wiedemann-Beckwith syndrome and a second Wilms tumor locus both map to 11p15.5. Am J Hum Genet 44:711-719
13. La Rosa GJ, Gudas LJ (1988) Early retinoic acid induced F9 teratocarcinoma stem cell gene ERA-1: alternative splicing creates transcripts for a homeobox-containing protein and one lacking the homeobox. Mol Cell Biol 8:3906-3917
14. Lee MP, Debaun M, Randhawa G, Reichard BA, Elledge SJ, Feinberg AP (1997a) Low frequency of p57(kip2) mutation in Beckwith-Wiedemann-Syndrome. Am J Hum Genet 61: 304-309
15. Lee MP, Hu RJ, Johnson LA, Feinberg AP (1997b) Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements. Nat Genet 15:181-185
16. Mannens M, Hoovers JM, Redeker E, Verjaal M, Feinberg AP, Little P, Boavida M, et al (1994) Parental imprinting of human chromosome region 11p15.3-pter involved in the Beckwith-Wiedemann syndrome and various human neoplasia. Eur J Hum Genet 2:3-23
17. Margolin JF, Friedman JR, Meyer WK, Vissing H, Thiesen HJ, Rauscher FJ 3d (1994) Kruppel-associated boxes are potent transcriptional repression domains. Proc Natl Acad Sci USA 91:4509-4513
18. Okeefe D, Dao D, Zhao L, Sanderson R, Warburton D, Weiss L, Anyaneyeboa K, et al (1997) Coding mutations in p57(kip2) are present in some cases of Beckwith-Wiedemann-Syndrome but are rare or absent in Wilms tumors. Am J Hum Genet 61:295-303
19. Pettenati MJ, Haines JL, Higgins RR, Wappner RS, Palmer CG, Weaver DD (1986) Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature. Hum Genet 74:143-154
20. Ping AJ, Reeve AE, Law DJ, Young MR, Boehnke M, Feinberg AP (1989) Genetic linkage of Beckwith-Wiedemann syndrome to 11p15. Am J Hum Genet 44:720-723
21. Redeker E, Alders M, Hoovers JM, Richard CW 3rd, Westerveld A, Mannens M (1995) Physical mapping of 3 candidate tumor suppressor genes relative to Beckwith-Wiedemann syndrome associated chromosomal breakpoints at 11p15.3. Cytogenet Cell Genet 68:222-225
22. Redeker E, Hoovers JM, Alders M, van Moorsel CJ, Ivens AC, Gregory S, Kalikin L, et al (1994) An integrated physical map of 210 markers assigned to the short arm of human chromosome 11. Genomics 21:538-550
23. Reik W, Brown KW, Schneid H, Le Bouc Y, Bickmore WX, Maher ER (1995) Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by altered imprinting pattern in the IGF2-H19 domain. Hum Mol Genet 4: 2379-2385
24. Shen WF, Detmer K, Simonitch-Eason TA, Lawrence HJ, Largman C (1991) Alternative splicing of the HOX2.2 homeobox gene in human hematopoietic cells and murine embryonic and adult tissues. Nucleic Acids Res 19:539-545
25. Smilinich NJ, Day CD, Fitzpatrick GV, Caldwell GM, Lossie AAC, Cooper PR, Smallwood AC, et al (1999) A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome. Proc Natl Acad Sci USA 96: 8064-8069
26. Sun FL, Dean WL, Kelsey G, Allen ND, Reik W (1997) Transactivation of IGF2 in a mouse model of Beckwith-Wiedemann syndrome. Nature 389:809-815
27. Weksberg R, Shen DR, Fei YL, Song QL, Squire J (1993) Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome. Nat Genet 5:143-150
28. Weksberg R, Squire J (1996) Molecular biology of Beckwith-Wiedemann syndrome. Med Pediatr Oncol 27:462-469
29. Wiedemann HR (1983) Tumours and hemihypertrophy associated with Wiedemann-Beckwith syndrome. Eur J Pediatr 141:129
30. Williams AJ, Khachigian LM, Shows T, Collins T (1995) Isolation and characterization of a novel zinc-finger protein with transcription represser activity. J Biol Chem 270: 22143-22152
31. Witzgall R, O'Leary E, Leaf A, Onaldi D, Bonventre JV (1994) The Kruppel-associated box-A (KRAB-A) domain of zincfinger proteins mediates transcriptional repression. Proc Natl Acad Sci USA 91:4514-4518
32. Yan Y, Frisen J, Lee MH, Massague J, Barbacid M (1997) Ablation of the CDK inhibitor p57Kip2 results in increased apoptosis and delayed differentiation during mouse development. Genes Dev 11:973-983
33. Zhang PM, Liegeois NJ, Wong C, Finegold M, Hou H, Thompson JC, Silverman A, et al. (1997) Altered cell differentiation and proliferation in mice lacking p57(kip2) indicates a role in Beckwith-Wiedemann-Syndrome. Nature 387:151-158