Chromosome breakage in the prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints

American Journal of Human Genetics

Volumn 65, Issue 2, 1999, Pages 370-386

  Amos Landgraf, James M ^a   Yonggang, Ji ^a   Gottlieb, Wayne ^b,d   Depinet, Theresa ^a   Wandstrat, Amy E ^a,e   Cassidy, Suzanne B ^a   Driscoll, Daniel J ^b   Rogan, Peter K ^c   Schwartz, Stuart ^a   Nicholls, Robert D ^a  

^a CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Department of Neuroscience ^*  (United States)

^c CHILDREN S MERCY HOSPITAL   (United States)

^d DeWitt Middle School   (United States)

^e UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 15Q; CHROMOSOME BREAKAGE; CLINICAL ARTICLE; DNA SEQUENCE; GENE DUPLICATION; GENETIC RECOMBINATION; HAPPY PUPPET SYNDROME; HUMAN; HUMAN CELL; NUCLEOTIDE SEQUENCE; PRADER WILLI SYNDROME; PRIORITY JOURNAL;

RODENTIA;

EID: 0033361765     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302510     Document Type: Article

References (72)

1. Åkefeldt A, Anvret M, Grandell U, Nordlinder R, Gillberg C (1995) Parental exposure to hydrocarbons in Prader-Willi syndrome. Dev Med Child Neurol 37:1101-1109
2. Bachl J, Olsson C, Chirkara N, Wabl M (1998) The Ig mutator is dependent on the presence, position, and orientation of the large intron enhancer. Proc Natl Acad Sci USA 95: 2396-2399
3. Baumer A, Dutly F, Balmer D, Riegel M, Tukel T, Krajewska-Walaseck M, Schinzel AA (1998) High level of unequal meiotic crossovers at the origin of the 22q11.2 and 7q11.23 deletions. Hum Mol Genet 7:887-894
4. Blair IP, Nash J, Gordon MJ, Nicholson GA (1996) Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease 1A: first report of a de novo duplication with a maternal origin. Am J Hum Genet 58:472-476
5. Bort S, Martínez F, Palau F (1997) Prevalence and parental origin of de novo 1.5-Mb duplication in Charcot-Marie-Tooth disease type 1A. Am J Hum Genet 60:230-233
6. Breukel C, Wijnen J, Tops C, Klift H v/d, Dauwerse H, Khan PM (1990) Vector-Alu PCR: a rapid step in mapping cosmids and YACs. Nucleic Acids Res 18:3097
7. Browne CE, Dennis NR, Maher E, Long FL, Nicholson JC, Sillibourne J, Barber JCK (1997) Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations. Am J Hum Genet 61:1342-1352
8. Buiting K, Greger V, Brownstein BH, Mohr RM, Voiculescu I, Winterpacht A, Zabel B, et al (1992) A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes. Proc Natl Acad Sci USA 89:5457-5461
9. Buiting K, Groß S, Ji Y, Senger G, Nicholls RD, Horsthemke B (1998) Expressed copies of the MN7 (D15F37) gene family map close to the common deletion breakpoints in the Prader-Willi/Angelman syndromes. Cytogenet Cell Genet 81:247-253
10. Butler MG (1990) Prader-Willi syndrome - current understanding of cause and diagnosis. Am J Med Genet 35: 319-332
11. Carrozzo R, Rossi E, Christian SL, Kittikamron K, Livieri C, Corrias A, Pucci L, et al (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
12. Cassidy SB (1997) Prader-Willi Syndrome. J Med Genet 34: 917-923
13. Cassidy SB, Conroy J, Becker L, Schwartz S (1996) Paternal triplication of 15q11-q13 in a hypotonic, developmentally delayed child without Prader-Willi or Angelman syndrome. Am J Med Genet 62:206-207
14. Cassidy SB, Gainey AJ, Butler MG (1989) Occupational hydrocarbon exposure among fathers of Prader-Willi syndrome patients with and without deletion of 15q. Am J Hum Genet 44:806-810
15. Chen KS, Manian P, Koeuth T, Potocki L, Zhao Q, Chinault AC, Lee CC, et al (1997) Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat Genet 17:154-163
16. Cheng S-D, Spinner NB, Zackai EH, Knoll JHM (1994) Cytogenetic and molecular characterization of inverted duplication chromosomes 15 from 11 patients. Am J Hum Genet 55:753-759
17. Christian SL, Bhatt NK, Martin SA, Sutcliffe JS, Kubota T, Huang B, Mutirangura A, et al (1998) Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb. Genome Res 8:146-157
18. Christian SL, Robinson WP, Huang B, Mutirangura A, Line MR, Nakao M, Surti U, et al (1995) Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients. Am J Hum Genet 57:40-48
19. Clayton-Smith J, Driscoll DJ, Waters MF, Webb T, Andrews T, Malcolm S, Pembrey ME, et al (1993a) Difference in methylation patterns within the D15S9 region of chromosome 15q11-q13 in first cousins with Angelman syndrome and Prader-Willi syndrome. Am J Med Genet 47:683-686
20. Clayton-Smith J, Pembrey ME (1992) Angelman syndrome. J Med Genet 29:412-415
21. Clayton-Smith J, Webb T, Cheng XJ, Pembrey ME, Malcolm S (1993b) Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome. J Med Genet 30: 529-531
22. Crolla JA, Harvey JF, Sitch FL, Dennis NR (1995) Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis. Hum Genet 95: 161-170
23. Dutly F, Schinzel A (1996) Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome. Hum Mol Genet 5:1893-1898
24. Edelmann L, Pandita RK, Morrow BE (1999) Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome. Am J Hum Genet 64: 1076-1086
25. Eichler EE (1998) Masquerading repeats: paralogous pitfalls of the human genome. Genome Res 8:758-762
26. Gabriel JM, Higgins MJ, Gebuhr TC, Shows TB, Saitoh S, Nicholls RD (1998) A model system to study genomic imprinting of human genes. Proc Natl Acad Sci USA 95: 14857-14862
27. Gray TA, Saitoh S, Nicholls RD (1999) An imprinted, mammalian bicistronic transcript encodes two independent proteins. Proc Natl Acad Sci USA 96:5616-5621
28. Heiskanen M, Hellsten E, Kallioniemi OP, Makela TP, Alitalo K, Peltonen L, Palotie A (1995) Visual mapping by fiber-FISH. Genomics 30:31-36
29. Huang B, Crolla JA, Christian SL, Wolf-Ledbetter ME, Macha ME, Papenhausen PN, Ledbetter DH (1997) Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes. Hum Genet 99:11-17
30. Ji Y, Walkowicz MJ, Buiting K, Johnson DK, Tarvin R, Rinchik EM, Horsthemke B, et al (1999) The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking that is deficient in mice with neuromuscular and spermiogenic abnormalities. Hum Mol Genet 8:533-542
31. Jong MTC, Gray TA, Ji Y, Glenn CC, Saitoh S, Driscoll DJ, Nicholls RD (1999) A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region. Hum Mol Genet 8:783-793
32. Juyal RC, Figuera LE, Hauge X, Elsea SH, Lupski JR, Greenberg F, Baldini A, et al (1996) Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients. Am J Hum Genet 58:998-1007
33. Klein S, Zenvirth D, Sherman A, Ried K, Rappold G, Simchen G (1996) Double-strand breaks on YACs during yeast meiosis may reflect meiotic recombination in the human genome. Nat Genet 13:481-484
34. Knoll JHM, Nicholls RD, Magenis RF, Glatt K, Graham JM Jr, Kaplan L, Lalande M (1990) Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers. Am J Hum Genet 47:149-154
35. Kuwano A, Mutirangura A, Dittrich B, Buiting K, Horsthemke B, Saitoh S, Niikawa N, et al (1992) Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis. Hum Mol Genet 1: 417-425
36. Lehman AL, Nakatsu Y, Ching A, Bronson RT, Oakey RJ, Keipo-Hrynko N, Finger JN, et al (1998) A very large protein with diverse functional motifs is deficient in rjs (runty, jerky, sterile) mice. Proc Natl Acad Sci USA 95:9436-9441
37. Lupski JR (1998) Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 14:417-422
38. Malzac P, Webber H, Moncla A, Graham JM Jr, Kukolich M, Williams C, Pagon RA, et al (1998) Mutation analysis of UBE3A in Angelman syndrome patients. Am J Hum Genet 62:1353-1360
39. Maquat LE (1996) Defects in RNA splicing and the consequence of shortened translational reading frames. Am J Hum Genet 59:279-286
40. Mascari MJ, Gottlieb W, Rogan P, Butler MG, Armour J, Jeffreys A, Waller D, et al (1992) The frequency of uniparental disomy in Prader-Willi syndrome: implications for molecular diagnosis. N Engl J Med 326:1599-1607
41. McDaniel LD, Schultz RA (1992) Elevated sister chromatid exchange phenotype of Bloom syndrome cells is complemented by human chromosome 15. Proc Natl Acad Sci USA 89:7968-7972
42. Nicholls RD, Knoll JHM, Butler MG, Karam S, Lalande M (1989) Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome. Nature 342: 281-285
43. Nicholls RD, Saitoh S, Horsthemke B (1998) Imprinting in Prader-Willi and Angelman syndromes. Trends Genet 14: 194-200
44. Nickoloff JA (1992) Transcription enhances intrachromosomal homologous recombination in mammalian cells. Mol Cell Biol 12:5311-5318
45. Nicolas A, Treco D, Schultes NP, Szostak JW (1989) An initiation site for meiotic gene conversion in the yeast Saccharomyces cerevisiae. Nature 338:35-39
46. Osborne LR, Herbrick J, Greavette T, Heng HHQ, Tsui L, Scherer SW (1997) PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7, Genomics 45: 402-406
47. Palau F, Lofgren A, De Jonghe P, Bort S, Nelis E, Sevilla T, Martin J, et al (1993) Origin of de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis. Hum Mol Genet 2:2031-2035
48. Pérez Jurado LA, Wang Y, Peoples R, Coloma A, Cruces J, 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
49. Purandare SM, Patel PI (1997) Recombination hot spots and human disease. Genome Res 7:773-786
50. Repetto GM, White LM, Bader PJ, Johnson D, Knoll JHM (1998) Interstitial duplications of chromosome region 15q11q13: Clinical and molecular characterization. Am J Med Genet 9:82-89
51. 6H deletion are likely due to dysfunction of a single gene. Proc Natl Acad Sci USA 92:6394-6398
52. Robinson WP, Binkert F, Gine R, Vazques C, Miller W, Rosenkranz W, Schinzel A (1993a) Clinical and molecular analysis of five inv dup(15) patients. Eur J Hum Genet 1:37-50
53. Robinson WP, Dutly F, Nicholls RD, Bernasconi F, Penaherrera M, Michaelis RC, Abeliovich D, et al (1998) The mechanisms involved in formation of deletions and duplications of 15q11-q13. J Med Genet 35:130-136
54. Robinson WP, Spiegel R, Schinzel AA (1993b) Deletion breakpoints associated with the Prader-Willi and Angelman syndromes (15q11-q13) are not sites of high homologous recombination. Hum Genet 91:181-184
55. Sachs RK, Van Den Engh G, Trask B, Yokota H, Hearst JE (1995) A random-walk/giant-loop model for interphase chromosomes. Proc Natl Acad Sci USA 92:2710-2714
56. Schiestl RH, Khogali F, Carls N (1994) Reversion of the mouse pink-eyed unstable mutation induced by low doses of X-rays. Science 266:1573-1576
57. Schinzel AA, Brecevic L, Bernasconi F, Binkert F, Berthet F, Wuilloud A, Robinson WP (1994) Intrachromosomal triplication of 15q11-q13. J Med Genet 31:798-803
58. Spritz RA, Bailin T, Nicholls RD, Lee S-T, Park S-K, Mascari MJ, Butler MG (1997) Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele. Am J Med Genet 71: 57-62
59. Stavnezer J (1996) Immunoglobulin class switching. Curr Opin Immunol 8:199-205
60. Strakowski SM, Butler MG (1987) Paternal hydrocarbon exposure in Prader-Willi syndrome. Lancet 2:1458
61. Sullivan BA, Jenkins LS, Karson EM, Leana-Cox J, Schwartz S (1996) Evidence for structural heterogeneity from molecular cytogenetic analysis of dicentric Robertsonian translocations. Am J Hum Genet 59:167-175
62. Sun Y, Nicholls RD, Butler MG, Saitoh S, Hainline BE, Palmer CG (1996) Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient. Hum Mol Genet 5:517-524
63. Tantravahi U, Nicholls RD, Stroh HS, Ringer S, Neve RL, Kaplan L, Wharton R, et al (1989) Quantitative calibration and use of DNA probes for investigating chromosomal abnormalities in the Prader-Willi syndrome. Am J Med Genet 33:78-87
64. Urbán Z, Helms C, Fekete G, Csiszár K, Bonnet D, Munnich A, Donis-Keller H, et al (1996) 7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover. Am J Hum Genet 59:958-962
65. Voelkel-Meiman K, Keil RL, Roeder GS (1987) Recombination-stimulating sequences in yeast ribosomal DNA correspond to sequences regulating transcription by RNA polymerase I. Cell 48:1071-1079
66. Walkowicz M, Ji Y, Ren X, Horsthemke B, Russell LB, Johnson DK, Rinchik EM, et al. Molecular characterization of radiation-and chemically-induced mutations associated with neuromuscular tremors, runting, juvenile lethality, and sperm defects in jdf2 mice. Mamm Genome (in press)
67. Wandstrat AE, Leana-Cox J, Jenkins L, 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
68. Webb T (1994) Inv dup(15) supernumerary marker chromosomes. J Med Genet 31:585-594
69. Willard HF, Holmes MT (1984) A sensitive and dependable assay for distinguishing hamster and human X-linked steroid sulfatase activity in somatic cell hybrids. Hum Genet 66:272-275
70. Wirth B, Schmidt T, Hahnen E, Rudnick-Schöneborn S, Krawczak M, Müller-Myhsok B, Schonling J, et al (1997) De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling. Am J Hum Genet 61:1102-1111
71. Wu T, Lichten M (1994) Meiosis-induced double-strand break sites determined by yeast chromatin structure. Science 263: 515-518
72. Zackowski JL, Nicholls RD, Gray BA, Bent-Williams A, Gottlieb W, Harris PJ, Waters MF, et al (1993) Cytogenetic and molecular analysis in Angelman syndrome. Am J Med Genet 46:7-11