Structure of the NF1 gene region and mechanisms underlying gross NF1 deletions

Monographs in Human Genetics

Volumn 16, Issue , 2008, Pages 89-102

  Kehrer Sawatzki, H ^a  

^a UNIVERSITY OF ULM   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

MYA;

EID: 79959614724     PISSN: 00770876     EISSN: 16623835     Source Type: Book Series    
DOI: 10.1159/000126547     Document Type: Article

References (66)

1. Cnossen MH, Van der Est MN, Breuning MH, Van Asperen CJ, Breslau-Siderius EJ, et al: Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1? Hum Mutat 1997;9:458-464. (Pubitemid 27194901)
2. Rasmussen SA, Colman SD, Ho VT, Abernathy CR, Arn PH, et al: Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1. J Med Genet 1998;35:468-471. (Pubitemid 28252154)
3. Kluwe L, Siebert R, Gesk S, Friedrich RE, Tinschert S, Kehrer-Sawatzki H, Mautner V-F: Screening of 500 unselected Neurofibromatosis 1 patients for deletions of the NF1 gene. Hum Mutat 2004;23:111-116. (Pubitemid 38200601)
4. Wimmer K, Yao S, Claes K, Kehrer-Sawatzki H, Tinschert S, et al: Spectrum of single-and multiexon NF1 copy number changes in a cohort of 1, 100 unselected NF1 patients. Genes Chromosomes Cancer 2006;45:265-276. (Pubitemid 43238477)
5. Mantripragada KK, Thuresson AC, Piotrowski A, Diaz De Stahl T, Menzel U, et al: Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH. J Med Genet 2006;43:28-38. (Pubitemid 43099992)
6. Venturin M, Guarnieri P, Natacci F, Stabile M, Tenconi R, et al: Mental retardation and cardio vascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2. J Med Genet 2004;41:35-41. (Pubitemid 38125685)
7. Mensink KA, Ketterling RP, Flynn HC, Knudson RA, Lindor NM, et al: Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature. J Med Genet 2006;43:e8.
8. De Raedt T, Brems H, Wolkenstein P, Vidaud D, Pilotti S, et al: Elevated risk for MPNST in NF1 microdeletion patients. Am J Hum Genet 2003;72:1288-1292. (Pubitemid 36530016)
9. Descheemaeker MJ, Roelandts K, De Raedt T, Brems H, Fryns JP, Legius E: Intelligence in individuals with a neurofibromatosis type 1 microdeletion. Am J Med Genet 2004;131 A: 325-326.
10. Spiegel M, Oexle K, Horn D, Windt E, Buske A, et al: Childhood overgrowth in patients with common NF1 microdeletions. Eur J Hum Genet 2005;13:883-888. (Pubitemid 40946088)
11. Emanuel BS, Shaikh TH: Segmental duplications: an 'expanding' role in genomic instability and disease. Nat Rev Genet 2001;2:791-800. (Pubitemid 33685576)
12. Inoue K, Lupski JR: Molecular mechanisms for genomic disorders. Annu Rev Genomics Hum Genet 2002;3:199-242. (Pubitemid 35217436)
13. Stankiewicz P, Lupski JR: Genome architecture, rearrangements and genomic disorders. Trends Genet 2002;18:74-82. (Pubitemid 34127806)
14. Shaw CJ, Lupski JR: Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Hum Mol Genet 2004;13:R57-R64. (Pubitemid 38443799)
15. Lupski JR, Stankiewicz P: Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet 2005;1:e49.
16. Jenne DE, Tinschert S, Dorschner MO, Hameister H, Stephens K, Kehrer-Sawatzki H: Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse. Genes Chromosomes Cancer 2003;37:111-120. (Pubitemid 36529778)
17. De Raedt T, Brems H, Lopez-Correa C, Vermeesch JR, Marynen P, Legius E: Genomic organization and evolution of the NF1 microdeletion region. Genomics 2004;84:346-360. (Pubitemid 38834172)
18. Forbes SH, Dorschner MO, Le R, Stephens K: Genomic context of paralogous recombination hotspots mediating recurrent NF1 region microdeletion. Genes Chromosomes Cancer 2004;41:12-25. (Pubitemid 38988734)
19. De Raedt T, Stephens M, Heyns I, Brems H, Thijs D, et al: Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion. Nat Genet 2006;38:1419-1423. (Pubitemid 44837564)
20. Dorschner MO, Sybert VP, Weaver M, Pletcher BA, Stephens K: NF1 microdeletion breakpoints are clustered at flanking repetitive sequences. Hum Mol Genet 2000;9:35-46. (Pubitemid 30145286)
21. Jenne DE, Tinschert S, Reimann H, Lasinger W, Thiel G, Hameister H, Kehrer-Sawatzki H: Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions. Am J Hum Genet 2001;69:516-527. (Pubitemid 32777691)
22. López-Correa C, Dorschner M, Brems H, Lazaro C, Clementi M, et al: Recombination hotspot in NF1 microdeletion patients. Hum Mol Genet 2001;10:1387-1392. (Pubitemid 32640667)
23. Petek E, Jenne DE, Smolle J, Binder B, Lasinger W, et al: Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations. J Med Genet 2003;40:520-525. (Pubitemid 36843075)
24. Kehrer-Sawatzki H, Kluwe L, Sandig C, Kohn M, Wimmer K, et al: High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene. Am J Hum Genet 2004;75:410-423. (Pubitemid 39095817)
25. Kehrer-Sawatzki H, Kluwe L, Funsterer C, Mautner VF: Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2. Hum Genet 2005;116:466-475. (Pubitemid 41166777)
26. Kehrer-Sawatzki H, Schmid E, Kluwe L, Funsterer C, Mautner VF: Absence of cutaneous neurofibromas in an NF1 patient with an atypical deletion partially overlapping the classical 1.4Mb microdeleted region. Am J Hum Genet 2008:146:691-699. (Pubitemid 351354144)
27. Upadhyaya M, Ruggieri M, Maynard J, Osborn M, Hartog C, et al: Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay. Hum Genet 1998;102:591-597. (Pubitemid 28282590)
28. López-Correa C, Brems H, Lazaro C, Marynen P, Legius E: Unequal meiotic crossover: a frequent cause of NF1 microdeletions. Am J Hum Genet 2000;66:1969-1974. (Pubitemid 30480104)
29. Reiter LT, Murakami T, Koeuth T, Pentao L, Muzny DM, Gibbs RA, Lupski JR: A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposonlike element. Nat Genet 1996;12:288-297. (Pubitemid 26080088)
30. Lindsay SJ, Khajavi M, Lupski JR, Hurles ME: A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination. Am J Hum Genet 2006;79:890-902. (Pubitemid 44763403)
31. Jeffreys AJ, Kauppi L, Neumann R: Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex. Nat Genet 2001;29:217-222. (Pubitemid 32952662)
32. McVean G A T, Myers SR, Hunt S, Deloukas P, Bentley DR, Donnelly P: The fine-scale structure of recombination rate variation in the human genome. Science 2004;304:581-584. (Pubitemid 38541915)
33. Hurles M: Gene conversion homogenizes the CMT1A paralogous repeats. BMC Genomics 2001;2:11.
34. Bi W, Park SS, Shaw CJ, Withers MA, Patel PI, Lupski JR: Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2. Am J Hum Genet 2003;73:1302-1315. (Pubitemid 38037424)
35. Jeffreys AJ, May CA: Intense and highly localized gene conversion activity in human meiotic crossover hot spots. Nat Genet 2004;36:151-156. (Pubitemid 38174373)
36. Winckler W, Myers SR, Richter DJ, Onofrio RC, McDonald GJ, et al: Comparison of fine-scale recombination rates in humans and chimpanzees. Science 2005;308:107-111. (Pubitemid 40471008)
37. Ptak SE, Roeder AD, Stephens M, Gilad Y, Pääbo S, Przeworski M: Absence of the TAP2 human recombination hotspot in chimpanzees. PLoS Biol 2004;2:e155.
38. Ptak SE, Hinds DA, Koehler K, Nickel B, Patil N, et al: Fine-scale recombination patterns differ between chimpanzees and humans. Nat Genet 2005;37:429-434.
39. Kehrer-Sawatzki H, Tinschert S, Jenne DE: Heterogeneity of breakpoints in non-LCR-mediated large constitutional deletions of the 17q11.2 NF1 tumour suppressor region. J Med Genet 2003;40:E116.
40. Kayes LM, Burke W, Riccardi VM, Benett R, Ehrlich P, Rubinstein A, Stephens K: Deletions spanning the neurofibromatosis I gene: identification and phenotype of five patients. Am J Hum Genet 1994;54:424-436. (Pubitemid 24068222)
41. Upadhyaya M, Roberts SH, Maynard J, Sorour E, Thompson PW, et al: A cytogenetic deletion, del (17) (q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay. J Med Genet 1996;33:148-152.
42. López Correa C, Brems H, Lazaro C, Estivill X, Clementi M, et al: Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions. Hum Mutat 1999;14:387-393. (Pubitemid 29529543)
43. Pasini D, Bracken AP, Jensen MR, Lazzerini Denchi E, Helin K: Suz12 is essential for mouse development and for EZH2 histone methyltransferase activity. EMBO J 2004;23:4061-4071. (Pubitemid 39472427)
44. De La Cruz CC, Fang J, Plath K, Worringer KA, Nusinow DA, Zhang Y, Panning B: Developmental regulation of Suz 12 localization. Chromosoma 2005;114:183-192.
45. Squazzo SL, O'Geen H, Komashko VM, Krig SR, Jin VX, et al: Suz12 binds to silenced regions of the genome in a cell-type-specific manner. Genome Res 2006;16:890-900. (Pubitemid 43992913)
46. Tuzun E, Sharp AJ, Bailey JA, Kaul R, Morrison VA, et al: Fine-scale structural variation of the human genome. Nat Genet 2005;37:727-732. (Pubitemid 41754889)
47. Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, et al: Global variation in copy number in the human genome. Nature 2006;444:444-454. (Pubitemid 44809057)
48. Wong KK, Deleeuw RJ, Dosanjh NS, Kimm LR, Cheng Z, et al: A comprehensive analysis of common copy-number variations in the human genome. Am J Hum Genet 2007;80:91-104. (Pubitemid 46047653)
49. Khaja R, Zhang J, Macdonald JR, He Y, Joseph-George AM, et al: Genome assembly comparison identifies structural variants in the human genome. Nat Genet 2006;38:1413-1418. (Pubitemid 44837563)
50. Dang C, Gottschling M, Manning K, O'Currain E, Schneider S, et al: Identification of dysregulated genes in cutaneous squamous cell carcinoma. Oncol Rep 2006;16:513-519.
51. Ishii H, Inageta T, Mimori K, Saito T, Sasaki H, et al: Frag1, a homolog of alternative replication factor C subunits, links replication stress surveillance with apoptosis. Proc Natl Acad Sci USA 2005;102:9655-9660. (Pubitemid 40981736)
52. Hanck T, Stricker R, Sedehizade F, Reiser G: Identification of gene structure and subcellular localization of human centaurin alpha 2, and p42IP4, a family of two highly homologous, Ins 1, 3, 4, 5-P4-/PtdIns 3, 4, 5-P3-binding, adapter proteins. J Neurochem 2004;88:326-336. (Pubitemid 38084549)
53. Wang Y, Han KJ, Pang XW, Vaughan HA, Qu W, et al: Large scale identification of human hepatocellular carcinoma-associated antigens by autoantibodies. J Immunol 2002;169:1102-1109. (Pubitemid 34753471)
54. Kaufmann D, Gruener S, Braun F, Stark M, Griesser J, Hoffmeyer S, Bartelt B: EVI2B, a gene lying in an intron of the neurofibromatosis type 1 (NF1) gene, is as the NF1 gene involved in differentiation of melanocytes and keratinocytes and is overexpressed in cells derived from NF1 neurofibromas. DNA Cell Biol 1999;18:345-356. (Pubitemid 29247317)
55. Aalto Y, El-Rifa W, Vilpo L, Ollila J, Nagy B, et al: Distinct gene expression profiling in chronic lymphocytic leukemia with 11q23 deletion. Leukemia 2001;15:1721-1728. (Pubitemid 33061839)
56. Fielding AB, Schonteich E, Matheson J, Wilson G, Yu X, et al: Rab11-FIP3 and FIP4 interact with Arf6 and the exocyst to control membrane traffic in cytokinesis. EMBO J 2005;24:3389-3399. (Pubitemid 41486777)
57. Wang KC, Koprivica V, Kim JA, Sivasankaran R, Guo Y, Neve RL, He Z: Oligodendrocyte-myelin glycoprotein in a Nogo receptor ligand that inhibits neurite outgrowth. Nature 2002;417:941-944. (Pubitemid 34716869)
58. Osborne LR, Li M, Pober B, Chitayat D, Bodurtha J, et al: A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Nat Genet 2001;29:321-325. (Pubitemid 33096459)
59. Gimelli G, Pujana MA, Patricelli MG, Russo S, Giardino D, et al: Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions. Hum Mol Genet 2003;12:849-858. (Pubitemid 36504027)
60. Visser R, Shimokawa O, Harada N, Kinoshita A, Ohta T, Niikawa N, Matsumoto N: Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion. Am J Hum Genet 2005;76:52-67. (Pubitemid 40023765)
61. Giglio S, Broman KW, Matsumoto N, Calvari V, Gimelli G, et al: Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. Am J Hum Genet 2001;68:874-883. (Pubitemid 32289733)
62. Giglio S, Calvari V, Gregato G, Gimelli G, Camanini S, et al: Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t (4;8) (p16; p23) translocation. Am J Hum Genet 2002;71:276-285. (Pubitemid 34800244)
63. Stefansson H, Helgason A, Thorleifsson G, Steinthorsdottir V, Masson G, et al: A common inversion under selection in Europeans. Nat Genet 2005;37:129-137.
64. Koolen DA, Vissers LE, Pfundt R, De Leeuw N, Knight SJ, et al: A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet 2006;38:999-1001. (Pubitemid 44325923)
65. Sharp AJ, Hansen S, Selzer RR, Cheng Z, Regan R, et al: Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet 2006;38:1038-1042. (Pubitemid 44325929)
66. Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, et al: Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nat Genet 2006;38:1032-1037. (Pubitemid 44325928)