Syntenic organization of the mouse distal chromosome 7 imprinting cluster and the Beckwith-Wiedemann syndrome region in chromosome 11p15.5

Human Molecular Genetics

Volumn 7, Issue 7, 1998, Pages 1149-1159

  Paulsen, Martina ^a,b   Davies, Karen R ^a   Bowden, Lucy M ^a   Villar, Angela J ^a,c   Franck, Olivia ^b   Fuermann, Martina ^b   Dean, Wendy L ^a   Moore, Tom F ^a   Rodrigues, Nanda ^d   Davies, Kay E ^d   Hu, Ren J ^e   Feinberg, Andrew P ^e   Maher, Eamonn R ^f   Reik, Wolf ^a   Walter, Jörn ^b  

^a BABRAHAM INSTITUTE   (United Kingdom)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF OXFORD   (United Kingdom)

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

^f UNIVERSITY OF BIRMINGHAM   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CONTIG; DNA;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BECKWITH WIEDEMANN SYNDROME; CHROMOSOME 11P; CHROMOSOME 7; CONTROLLED STUDY; EMBRYO; FEMALE; GENE CLUSTER; GENE EXPRESSION; GENE STRUCTURE; GENETIC ENGINEERING; GENETIC ORGANIZATION; GENETIC TRANSCRIPTION; GENOME IMPRINTING; MALE; MOLECULAR CLONING; MOUSE; NEWBORN; NONHUMAN; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; ANIMALS; BECKWITH-WIEDEMANN SYNDROME; CHROMOSOMES, HUMAN, PAIR 11; CONTIG MAPPING; DNA-BINDING PROTEINS; FEMALE; GENETIC MARKERS; GENOMIC IMPRINTING; HUMANS; KCNQ POTASSIUM CHANNELS; KCNQ1 POTASSIUM CHANNEL; MALE; MICE; MICE, INBRED C57BL; MOLECULAR SEQUENCE DATA; MULTIGENE FAMILY; NUCLEAR PROTEINS; PHYSICAL CHROMOSOME MAPPING; POTASSIUM CHANNELS; POTASSIUM CHANNELS, VOLTAGE-GATED; SEQUENCE HOMOLOGY, NUCLEIC ACID;

EID: 0031750223     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.7.1149     Document Type: Article

References (70)

1. Reik, W. and Walter, J. (1998) Imprinting mechanisms in mammals Curr. Opin. Genet. Dev., 8, 154-164.
2. John, R.M. and Surani, M.A. (1996) Imprinted genes and regulation of gene expression by epigenetic inheritance. Curr Opin. Cell. Biol., 8, 348-353.
3. Barlow, D.P. (1997) Competition - a common motif for the imprinting mechanism? EMBO J., 16, 6899-6905.
4. Lalande, M. (1996) Parental imprinting and human disease. Annu. Rev. Genet., 30, 173-195.
5. Horsthemke, B., Dittrich, B. and Buiting, K. (1997) Imprinting mutations on human chromosome 15. Hum. Mutat., 10, 329-337.
6. Leighton, P.A., Saam, J.R., Ingram, R.S. and Tilghman, S.M. (1996) Genomic imprinting in mice - function and mechanism. Biol. Reprod., 54, 273-278.
7. Tycko, B. (1997) DNA methylation in genomic imprinting. Mutat. Res., 386, 131-140.
8. Kitsberg, D., Selig, S., Brandels, M., Simon, I., Keshet, I., Driscoll, D.J., Nicholls, R.D. and Cedar, H. (1993) Allele-specific replication timing of imprinted regions. Nature, 364, 459-463.
9. Knoll, J.H.M., Cheng, S.D. and Lalande, M. (1994) Allele specificity of DNA replication timing in Angelman/Prader-Willi syndrome imprinted chromosomal region. Nature Genet., 6, 41-46.
10. Pàldi, A., Gyapay, G. and Jami, J. (1995) Imprinted chromosomal regions of the human genome display sex-specific meiotic recombination frequencies. Curr. Biol., 5, 1030-1035.
11. Robinson, W.P. and Lalande, M. (1995) Sex-specific meiotic recombination in the Prader-Willi/Angelman syndrome imprinted region. Hum. Mol. Genet., 4, 801-806.
12. Dittrich, B., Buiting, K., Korn, B., Rickard, S., Buxton, J., Saitoh, S., Nicholls, R.D., Poustka, A., Winterpacht, A., Zabel, B. and Horsthemke, B. (1996) Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene. Nature Genet., 14, 163-170.
13. Glenn, C.C., Driscoll, D.J., Yang, T.P. and Nicholls, R.D. (1997) Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes. Mol. Hum Reprod., 3, 321-332.
14. McDonald, H.R. and Wevrick, R. (1997) The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse. Hum. Mol. Genet., 6, 1873-1878.
15. Ohlsson, R., Nystrom, A., Pfeifer-Ohlsson, S., Tohonon, V., Hedbourg, F., Schofield, P., Flam, F. and Ekström, T.J. (1993) IGF2 is parentally imprinted during human embryogenesis and in the Beckwith-Wiedemann syndrome. Nature Genet., 4, 94-97.
16. Giannoukakis, N., Deal, C., Paquette, J., Goodeyer, C.G. and Polychronakis, C. (1993) Parental genomic imprinting of the human IGF2 gene. Nature Genet., 4, 98-101.
17. Deltour, L., Montagutelli, X., Guenet, J.L., Jami, J. and Paldi, A. (1995) Tissue- and developmental stage-specific imprinting of the mouse proinsulin gene, Ins2. Dev. Biol., 168, 686-688.
18. Rainer, S., Johnson, L.A., Dobry, C.J., Ping, A.J., Grundy, P.E. and Feinberg, A.P. (1993) Relaxation of the imprinted genes in human cancer. Nature, 362, 747-749.
19. Alders, M., Hodges, M., Hadjantonakis, A.K., Postmus, J., Van Wijck, I., Bliek, J., De Meulemeester, M., Westerveld, A., Guillemont, F., Oudejans, C., Little, P. and Mannens, M. (1997) The human Achaete-scute homologue 2 (ASCL2. HASH2) maps to chromosome 11p15.5, close to IGF2 and is expressed in extravillus trophoblasts. Hum. Mol. Genet., 6, 859-867.
20. Matsuoka, S., Thompson, J.S., Edwards, M.C., Barletta, J.M., Grundy, P., Kalikin, L.M., Harper, J.W., Elledge, S.J. and Feinberg, A.P. (1996) Imprinting of the gene encoding a human cyclin-dependent kinase inhibitor p57-KIP2, on chromosome 11p15. Proc. Natl Acad. Sci. USA, 93, 3026-3030.
21. Qian, N., Frank, D., O'Keefe, D., Dao, D., Zhao, L., Yuan, L., Wang, Q., Keating, M., Walsh, C. and Tycko, B. (1997) The IPL gene on chromosome 11p15.5 is imprinted in humans and mice and is similar to TDAG51, implicatedin Fas expression and apoptosis. Hum. Mol. Genet., 6, 2021-2029.
22. Lee, M.P., Hu, R.-J., Johnson, L.A. and Feinberg, A.P. (1997) Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements. Nature Genet., 15, 181-185.
23. Hoovers, J.M.N., Kalkin, L.M., Johnson, L.A., Alders, M., Redeker, B., Law, D.J., Bliek, J., Steenman, M., Benedict, M., Wiegant, J., Lengauer, C., Taillon-Miller, P., Schlessinger, D., Edwards, M.C., Elledge, S.J., Ivens, A., Westerveld, A., Little, P., Mannens, M. and Feinberg, A.P. (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.
24. Reid, L.H., Davies, C., Cooper, P.R., Crider-Miller, S.J., Sait, S.N.J., Nowak, N.J., Evans, G., Stanbridge, E.J., deJong, P., Shows, T.B., Weissman, B.E. and Higgins, M.J. (1997) A 1-Mb physical map and PAC contig of the imprinted domain in 11p15.5 that contains TAPA1 and the BWSCR1/WT2 region. Genomics, 43, 366-375.
25. Hu, R.-J., Lee, M.P., Connors, T.D., Johnson, L.A., Burn, T.C., Su, K., Landes, G.M. and Feinberg, A.P. (1997) A 2.5-Mb transcript map of a tumour-suppressing subchromosomal transferable fragment from 11p15.5, and isolation and sequence analysis of three novel genes. Genomics, 46, 9-17.
26. KIP2 gene, is biallelically expressed in fetal and adult tissues. Hum. Mol. Genet., 5, 1743-1748.
27. Tsang, P., Gilles, F., Yuan, L., Kuo, Y.-H., Lupu, F., Samara, G., Moosikasuwan, J., Goye, A., Zelenetz, A.D., Seilen, L and Tycko, B. (1995) A novel L23-related gene 40kb downstream of the imprinted HI9 gene is biallelically expressed in mid-fetal and adult tissues. Hum. Mol. Genet., 4, 1499-1507.
28. Weksberg, R., Shen, D.R., Fei, Y.L., Song, Q.L. and Squire, J. (1993) Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome. Nature Genet., 5, 143-149.
29. Joyce, J.A., Lam, W.K., Catchpoole, D.J., Jenks, P., Reik, W., Maher, E.R. and Schofield, P.N. (1997) Imprinting of IGF2 and H19: lack of reciprocity in sporadic Beckwith-Wiedemann syndrome. Hum. Mol. Genet., 6, 1543-1548.
30. Reik, W. and Maher, E.R. (1997) Imprinting in clusters: lessons from Beckwith-Wiedemann syndrome. Trends Genet., 13, 330-334.
31. Reik, W., Brown, K.W., Schneid, H., Le Bouc, Y., Bickmore, W. and Maher, E.R. (1995) Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by altered imprinting pattern in the IGF2-HI9 domain. Hum. Mol. Genet., 4, 2379-2385.
32. Brown, K.W., Villar, A.J., Bickmore, W., Clayton-Smith, J., Catchpoole, D., Maher, E.R. and 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.
33. Mannens, M., Hoovers, J.M., Redeker, E., Verjaal, M., Feinberg, A.P., Little, P., Boavida, M., Coad, N., Steenman, M. Bliek, J. 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.
34. Weksberg, R. Teshima, I., Williams, B.R.G., Greenberg, C.R., Pueschel, S.M., Chemos, J.E., Fowlow, S.B., Hoyme, E., Anderson, I.J. Whiteman, D.A.H., Fisher, N. and Squire, J. (1993) Molecular characterisation of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localisation and suggests the gene for BWS is imprinted. Hum. Mol. Genet., 2, 549-446.
35. KIP2 is mutated in Beckwith-Wiedemann syndrome. Nature Genet., 14, 171-173.
36. KIP2 are present in some cases of Beckwith-Wiedemann syndrome but are rare or absent in Wilms tumours. Am. J. Hum. Genet., 61, 295-303.
37. Lee, M.P., DeBaun, M., Randhawa, G., Reichard, B.A., Elledge, S.J. and Feinberg, A.P. (1997) Low frequency of p57(KIP2) mutation in Beckwith-Wiedemann syndrome. Am. J. Hum. Genet., 61, 304-309.
38. Sun, F.-L., Dean, W.L., Kelsey, G., Allen, N.D. and Reik, W. (1997) Transactivation of Igf2 in a mouse model of Beckwith-Wiedemann syndrome. Nature, 389, 809-815.
39. Eggenschwiler, J., Ludwig, T., Fisher, P., Leighton, P.A., Tilghman, S. and 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.
40. Van, Y.M., Lee, M.H., Massague, J. and Barbacid, M. (1997) Ablation of the CDK inhibitor p57(Kip2) results in increased apoptosis and delayed differentiation during mouse development. Genes Dev., 11, 973-983.
41. Zhang, P.M., Liegeois, N.J., Wong, C., Finegold, M., Hou, H., Thompson, J.C., Silveiman, A., Harper, J.W., DePinho, R.A. and Elledge, S.J. (1997) Altered cell differentiation and proliferation in mice lacking p57(KIP2) indicates a role in Beckwith-Wiedemann syndrome. Nature, 387, 151-158.
42. Guillemot, F., Caspary, T., Tilghman, S.M., Copeland, N.G., Gilbert, D.J., Jenkins, N.A., Anderson, D.J., Joyner, A.L., Rossant, J. and Nagy, A. (1995) Genomic imprinting of Mash2, a mouse gene required for trophoblast development. Nature Genet., 9, 235-242.
43. Zubair, M., Hilton, K., Saam, J.R., Surani, M.A., Tilghman, S.M. and Sasaki, H. (1997) Structure and expression of the mouse L23mrp gene downstream of the imprinted H19 gene: biallelic expression and lack of interaction with the H19 enhancers. Genomics, 45, 290-296.
44. Gould, T.D. and Pfeifer, K. (1998) Imprinting of mouse Kvlqt1 is developmentally regulated. Hum. Mol. Genet., 7, 483-487.
45. Theodosiu, A.M., Rodrigues, N.R., Nesbit, M.A., Ambrose, H.J., Paterson, H., McLellan-Arnold, E., Boyd, Y., Lerversha, M.A., Owen, N., Blake, D.J., Ashworth, A. and Davies, K.E. (1996) A member of the MAP kinase phosphatase gene family in mouse containing a complex trinucleotide repeat in the coding region. Hum. Mol. Genet., 5, 675-684.
46. Andria, M.L., Hsieh, C-L., Oren, R., Francke, U. and Levy, S. (1991) Genomic organisation and chromosomal localisation of the TAPA-1 gene. J. Immunol., 147, 1030-1036.
47. KS cardiac potassium current. Nature, 384, 78-80.
48. Jiang, M., Tseng-Cranck, J. and Tseng, G.-N. (1997) Suppression of slow delayed rectifier current by a truncated isoform of KvLQT1 cloned from normal human heart. J. Biol. Chem., 272, 24109-24112.
49. Kozak, M. (1996) Interpreting cDNA sequences: some insights from studies on translation. Mammal. Genome, 7, 563-574.
50. Rodriguez, P., Munroe, D., Prawitt, D., Chu, L.L., Bric, E., Kim, J., Reid, L.H., Davies, C., Nakagama, H., Loebbert, R., Winterpacht, A., Petruzzi, M.-J., Higgins, M.J., Nowak, N., Evans, G., Shows, T., Weissman, B.E., Zabel, B., Housman, D.E. and Pelletier, J. (1997) Functional characterisation of human nucleosome assembly protein-2 (NAP1L4) suggests a role as a histone chaperone. Genomics, 44, 253-265.
51. Maecker, H.T. and Levy, S. (1997) Normal lymphocyte development but delayed humoral immune response in CD81-null mice. J. Exp. Med., 185, 1505-1510.
52. Zhou, G.-Y., Quaife, C.J. and Palmiter, R.D. (1995) Targeted disruption of the tyrosine hydroxylase gene reveals that catecholamines are required for mouse fetal development. Nature, 374, 640-643.
53. Greally, J.M., Starr, D.J., Hwang, S., Song, L., Jaarola, M. and Zemel, S. (1998) The mouse H19 locus mediates a transition between imprinted and non-imprinted DNA replication patterns. Hum. Mol. Genet., 7, 91-95.
54. Neumann, B., Kubicka, P. and Barlow, D.P. (1995) Characteristics of imprinted genes. Nature Genet., 9, 12-13.
55. Ishimi, Y. and Kikuchi, A. (1991) Identification and molecular cloning of yeast homolog of nucleosome assembly protein I which facilitates nucleosome assembly in vitro. J. Biol. Chem., 266, 7025-7029.
56. Ito, T., Bulger, M., Kobayashi, R. and Kadonaga, J.T. (1996) Drosophila N AP-1 is a core histone chaperone that functions in ATP-facilitated assembly of regularly spaced nucleosome arrays. Mol. Cell. Biol., 16, 3112-3124.
57. Kellogg, D.R., Kikuchi, A., Fujii-Nakata, T., Turck, C.W. and Murray, A.W. (1995) Members of the NAP/SET family of proteins interact specifically with B-type cyclins. J. Cell Biol., 130, 661-673.
58. Kellogg, D.R. and Murray, A.W. (1995) NAP1 acts with Cb12 to perform mitotic functions and to suppress polar bud growth in budding yeast. J. Cell Biol., 130, 675-685.
59. McLaughlin, K.J., Szabó, P., Haegel, H. and Mann, J.R. (1996) Mouse embryos with paternal duplication of an imprinted chromosome 7 region die at midgestation and lack placental spongiotrophoblast. Development. 122, 265-270.
60. Feil, R., Walter, J., Allen, N.D. and Reik, W. (1994) Developmental control of allelic melhylation in the imprinted mouse Igf2 and H19 genes. Development, 120, 2933-2943.
61. + channel mutations found in inherited cardiac arrhythmias. Hum Mol. Genet., 6, 1943-1949.
62. Moore, T., Constancia, M., Zubair, M., Bailleul, B., Feil, R., Sasaki, H. and Reik, W. (1997) Multiple imprinted sense and antisense transcripts, differential methylalion and tandem repeats in a putative imprinting control region upstream of mouse Igf2. Proc. Natl Acad. Sci. USA, 94, 12509-12514.
63. Leighton, P.A., Saam, J.R., Ingram, R.S., Stewart, C.L. and Tilghman, S.M. (1995) An enhancer deletion affects both H19 and Igf2 expression. Genes Dev., 9, 2079-2089.
64. Larin, Z., Monaco, A.P. and Lehrach, H. (1991) Yeast artificial chromosome libraries containing large inserts from mouse and human DNA. Proc. Natl Acad. Sci. USA, 88, 4123-4127.
65. Johnston, J.R. (1988) In Campbell, L. and Duffus, J.H. (eds), Yeast: A Practical Approach. IRL Press, Oxford, pp. 107-123.
66. Laird, P.W., Zijderveld, A., Linders, K., Rudnicki, M.A., Jaenisch, R. and Berns, A. (1991) Simplified mammalian DNA isolation procedure. Nucleic Acids Res., 19, 4293.
67. Chomczynski, P. and Sacchi, N. (1987) Single step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal. Biochem., 162, 156-159.
68. Sambrook, J., Fritsch, E. and Maniatis, T. (1989) Molecular Cloning: A Laboratory Manual, 2nd edn. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
69. Feinberg, A.P. and Vogelstein, B. (1983) A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal. Biochem., 132, 6-13.
70. Sasaki, H., Ferguson-Smith, A.C., Shum, A.S.W., Barton, S.C and Surani, M.A. (1995) Temporal and spatial regulation of H19 imprinting in normal and uniparental mouse embryos. Development, 121, 4195-4202.