Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse

Genes Chromosomes and Cancer

Volumn 37, Issue 2, 2003, Pages 111-120

  Jenne, Dieter E ^a   Tinschert, Sigrid ^b   Dorschner, Michael O ^c   Hameister, Horst ^d   Stephens, Karen ^c   Kehrer Sawatzki, Hildegard ^d  

^a MAX PLANCK INSTITUTE OF NEUROBIOLOGY   (Germany)

^b HUMBOLDT UNIVERSITY   (Germany)

^c UNIVERSITY OF WASHINGTON   (United States)

^d UNIVERSITY OF ULM   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA;

ARTICLE; CASE REPORT; CHROMOSOME 11; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME INVERSION; DNA STRUCTURE; FACE DYSMORPHIA; GENE DELETION; GENE DUPLICATION; GENE LIBRARY; GENE LOCUS; GENE MAPPING; HUMAN; INTELLIGENCE QUOTIENT; MOLECULAR CLONING; NEUROFIBROMATOSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; TUMOR SUPPRESSOR GENE; UNINDEXED SEQUENCE;

ADULT; ANIMALS; CHILD; CHROMOSOMES, ARTIFICIAL, BACTERIAL; CHROMOSOMES, HUMAN, PAIR 17; CHROMOSOMES, HUMAN, PAIR 19; EVOLUTION, MOLECULAR; GENE DUPLICATION; GENE ORDER; GENES, NEUROFIBROMATOSIS 1; GENETIC MARKERS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MICE; NEUROFIBROMATOSIS 1; PHYSICAL CHROMOSOME MAPPING; PRIMATES; SEQUENCE HOMOLOGY, NUCLEIC ACID;

PRIMATES;

EID: 0037968340     PISSN: 10452257     EISSN: None     Source Type: Journal    
DOI: 10.1002/gcc.10206     Document Type: Article

References (41)

1. Bailey JA, Yavor AM, Massa HF, Trask BJ, Eichler EE. 2001. Segmental duplications: organization and impact within the current human genome project assembly. Genome Res 11:1005-1017.
2. Bentivegna A, Venturin M, Gervasini C, Corrado L, Larizza L, Riva P. 2001. Identification of duplicated genes in 17q11.2 using FISH on stretched chromosomes and DNA fibers. Hum Genet 109:48-54.
3. Cnossen MH, van der Est MN, Breuning MH, van Asperen CJ, Breslau-Siderius EJ, van der Ploeg AT, de Goede-Bolder A, van den Ouweland AM, Halley DJ, Niermeijer MF. 1997. Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1? Hum Mutat 9:458-464.
4. Cummings LM, Trent JM, Marchuk DA. 1996. Identification and mapping of type 1 neurofibromatosis (NF1) homologous loci. Cytogenet Cell Genet 73:334-340.
5. Dorschner MO, Sybert VP, Weaver M, Pletcher BA, Stephens K. 2000. NF1 microdeletion breakpoints are clustered at flanking repetitive sequences. Hum Mol Genet 9:35-46.
6. Eichler EE. 2001. Recent duplication, domain accretion and the dynamic mutation of the human genome. Trends Genet 17:661-669.
7. Fountain JW, Wallace MR, Bruce MA, Seizinger BR, Menon AG, Gusella JF, Michels VV, Schmidt MA, Dewald GW, Collins FS. 1989a, Physical mapping of a transtocation breakpoint in neurofibromatosis. Science 244:1085-1087.
8. Fountain JW, Wallace MR, Brereton AM, O'Connell P, White RL, Rich DC, Ledbetter DH, Leach RJ, Fournier RE, Menon AG, Gusella JF, Barker D, Stephens K, Collins FS. 1989b. Physical mapping of the von Recklinghausen neurofibromatosis region on chromosome 17. Am J Hum Genet 44:58-67.
9. Gervasini C, Bentivegna A, Venturin M, Corrado L, Larizza L. Riva P. 2002. Tandem duplication of the NF1 gene detected by high-resolution FISH in the 17q11.2 region. Hum Genet 110:314-321.
10. Hulsebos TJ, Bijleveld EH, Riegman PH, Smink LJ, Dunham I. 1996. Identification and characterization of NF1-related loci on human chromosomes 22. 14, and 2. Hum Genet 98:7-11.
11. Jenne DE, Tinschert S, Sregmann E, Reimann H, Nürnberg P, Horn D, Naumann I, Buske A, Thiel G. 2000. A common set of at least 11 functional genes is lost in the majority of NF1 patients with gross deletions. Genomics 66:93-97.
12. Jenne DE, Tinschert S, Reimann H, Lasinger W, Thiel G, Hameister H, Kehrer-Sawatzki H. 2001. Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions. Am J Hum Genet 69:516-527.
13. Jorde LB, Watkins WS, Viskochil D, O'Connell P, Ward K. 1993. Linkage disequilibrium in the neurofibromatosis 1 (NF1) region: implications for gene mapping. Am J Hum Genet 53:1038-1050.
14. Kayes LM, Burke W, Riccardi VM. Bennett R, Ehrlich P, Rubenstein A, Stephens K. 1994. Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients. Am J Hum Genet 54:424-436.
15. Kehrer-Sawatzki H, Schwickardt T, Assum G., Rocchi M, Krone W. 1997a. A third neurofibromatosis type 1 (NF1) pseudogene at chromosome 15q11.2. Hum Genet 100:595-600.
16. Kehrer-Sawatzki H, Haeussler J, Krone W, Bode H, Jenne DE, Mehnett KU, Tuemmers U, Assum G. 1997b. The second case of a t(17;22) in a family with neurofibromatosis type 1: sequence analysis of the breakpoint regions. Hum Genet 99:237-247.
17. Kehrer-Sawatzki H, Assum G, Hameister H. 2002. Molecular characterisation of t(17;22) (q11.2;q11.2) is not consistent with NF1 gene duplication. Hum Genet 111:465-467.
18. Koontz JI, Soreng AL, Nucci M, Kuo FC, Pauwels P, van Den Berghe H, Dal Cin P, Fletcher JA, Sklar J. 2001. Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal rumors. Proc Natl Acad Sci USA 98:6348-6353.
19. Ledbetter DH, Rich DC, O'Connell P, Leppert M. Carey JC. 1989. Precise localization of NF1 to 17ql 1.2 by balanced translocation. Am J Hum Genet 44:20-24.
20. Legius E, Marchuk DA, Hall BK, Andersen LB, Wallace MR, Collins FS, Glover TW. 1992. NF1related locus on chromosome 15. Genomics 13:1316-1318.
21. Li Y, O'Connell P, Breidenbach HH, Cawthon R, Stevens J, Xu G, Neil S, Robertson M, White R, Viskochil D. 1995. Genomic organization of the neurofibromatosis 1 gene (NF1). Genomics 25:9-18.
22. López Correa C, Brems H, Lazaro C, Estivill X, Clementi M, Mason S, Rutkowski JL, Marynen P, Legius E. 1999. Molecular studies in 20 submicroscopie neurofibromatosis type 1 gene deletions. Hum Mutat 14:387-393.
23. López Correa C, Dorschner M, Brems H, Lazaro C, Clementi M, Upadhyaya M, Dooijes D, Moog U, Kehrer-Sawatzki H, Rutkowski JL, Fryns JP, Marynen P, Stephens K, Legius E. 2001. Recombination hotspot in NF1 microdeletion patients. Hum Mol Genet 10:1387-1392.
24. Luijten M, Wang Y, Smith BT, Westerveld A, Smink LJ, Dunham I, Roe BA, Hulsebos TJ. 2000. Mechanism of spreading of the highly related neurofibromatosis type 1 (NF1) pseudogenes on chromosomes 2, 14 and 22. Eur J Hum Genet 8:209-214.
25. Marchuk, DA, Tavakkol R, Wallace MR, Brownstein BH, Taillon-Miller P, Fong CT, Legius E, Andersen LB, Glover TW, Collins FS. 1992. A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis gene. Genomics 13:672-680.
26. Messiaen L, De Bie S, Moens T, Van den Enden A, Leroy J. 1993. Lack of independence between five DNA polymorphisms in the NF1 gene. Hum Mol Genet 2:485.
27. North K. 1999. Cognitive function and academic performance. In: Friedman JM, Gurmann DH. MacCollin M, Riccardi VM, editors. Neurofibromatosis: phenotype, natural history, and pathogenesis, Third Ed. Baltimore/London: The John Hopkins University Press.
28. Park SS, Stankiewicz P, Bi W, Shaw C, Lehoczky J, Dewar K, Birren B. Lupski JR. 2002. Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs. Genome Res 12:729-738.
29. Purandare SM, Huntsman Breidenbach H, Li Y, Zhu XL, Sawada S, Neil SM, Brothman A, White R, Cawthon R, Viskochil D. 1995. Identification of neurofibromatosis 1 (NF1) homologous loci by direct sequencing, fluorescence in situ hybridization, and PCR amplification of somatic cell hybrids. Genomics 30:476-485.
30. Purandare SM, Cawthon R, Nelson LM, Sawada S, Watkins WS, Ward K, Jorde LB, Viskochil DH. 1996. Genotyping of PCR-based polymorphisms and linkage-disequilibrium analysis at the NF1 locus. Am J Hum Genet 59:159-166.
31. Rasmussen SA, Colman SD, Ho VT, Abernathy CR, Arn PH, Weiss L, Schwartz C, Saul RA, Wallace MR. 1998. Constitutional and mosaic large NF1 gene deletions in neurofibromarosis type 1. J Med Genet 35:468-471.
32. Regnier V, Meddeb M, Lecointre G, Richard F, Duverger A, Nguyen VC, Dutrillaux B, Bernheim A, Danglot G. 1997. Emergence and scattering of multiple neurofibromatosis (NF1)-related sequences during hominoid evolution suggest a process of pericentromeric interchromosomal transposition. Hum Mol Genet 6:9-16.
33. Riva P, Corrado L, Natacci F, Castorina P, Wu BL, Schneider GH, Clementi M, Tenconi R, Korf BR, Larizza L. 2000. NF1 microdeletion syndrome: refined FISH characterizacion of sporadic and familial deletions with locus-specific probes. Am J Hum Genet 66:100-109.
34. Riva P, Gervasini C, Larizza L. 2002. Genomic evidence versus characterisation of a single (17;22) translocation on NF1 gene duplication: lessons from deletions in "balanced" chromosomal rearrangements. Hum Genet 111:468-469.
35. Samonte RV, Eichler EE. 2002. Segmental duplications and the evolution of the primate genome. Nat Rev Genet 3:65-72.
36. Suzuki H, Ozawa N, Taga C, Kano T, Hattori M, Sakaki Y. 1994. Genomic analysis of a NF1 related pseudogene on human chromosome 21. Gene 147:277-280.
37. Upadhyaya M, Ruggieri M, Maynard J, Osborn M, Hartog C, Mudd S, Penttinen M, Cordeiro I, Ponder M, Ponder BA, Krawczak M, Cooper DN. 1998. Gross deletions of the neurofibromarosis type 1 (NF1) gene ate predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay. Hum Genet 102:591-597.
38. Valero MC, Velasco E, Valero A, Moreno F, Hernandez-Chico C. 1996. Linkage disequilibrium between four intragenic polymorphic microsarellites of the NF1 gene and its implications for genetic counselling. J Med Genet 33:590-593.
39. Valero MC, Pascual-Castroviejo I, Velasco E, Moreno F, Hernandez-Chico C. 1997. Identification of de novo deletions at the NF1 gene: no preferential paternal origin and phenotypic analysis of patients. Hum Genet 99:720-726.
40. Valero MC, de Luis O, Cruces J, Perez Jurado LA. 2000. Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: the low-copy repeats that flank the Williams-Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s). Genomics 69:1-13.
41. Yagle MK, Parruti G, Xu W, Ponder BA, Solomon E. 1990. Genetic and physical map of the von Recklinghausen neurofibromarosis (NF1) region on chromosome 17. Proc Natl Acad Sci USA 87: 7255-7259.