Unequal meiotic crossover: A frequent cause of NF1 microdeletions

American Journal of Human Genetics

Volumn 66, Issue 6, 2000, Pages 1969-1974

  Correa, Catalina López ^a   Brems, Hilde ^a   Lázaro, Conxi ^c   Marynen, Peter ^b   Legius, Eric ^a,d  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^c HOSPITAL DURAN I REYNALS   (Spain)

^d CENTER FOR HUMAN GENETICS   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DISORDER; CHROMOSOME 17; CLINICAL FEATURE; CROSSING OVER; DINUCLEOTIDE REPEAT; DNA FLANKING REGION; GENE DELETION; HUMAN; NEUROFIBROMATOSIS; PRIORITY JOURNAL;

EID: 0033911949     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302920     Document Type: Article

References (30)

1. Amos-Landgraf JM, Ji Y, Gottlieb W, Depinet T, Wandstrat AE, Cassidy SB, Driscoll DJ, et al (1999) Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large transcribed repeats at proximal and distal breakpoints. Am J Hum Genet 65: 370-386
2. Baumer A, Dutly F, Balmer D, Riegel M, Tukel T, Krajewska-Walasek 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
3. 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
4. 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
5. Clementi M, Boni S, Mammi I, Favarato M, Tenconi R (1996) Clinical application of genetic polymorphism in neurofibromatosis type 1. Ann Genet 39:92-96
6. Cnossen MH, van der Est MN, Breuning MH, van Asperen CJ, Breslau-Siderius EJ, van der Ploeg AT, de GoedeBolder A, et al (1997) Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1? Hum Mutat 9: 458-464
7. 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
8. 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
9. Heim RA, Kam-Morgan LN, Binnie CG, Corns DD, Cayouette MC, Farber RA, Aylsworth AS, et al (1995) Distribution of 13 truncating mutations in the neurofibromatosis 1 gene. Hum Mol Genet 4:975-981
10. Huson SM, Compston DA, Harper PS (1989) A genetic study of von Recklinghausen neurofibromatosis in south east Wales. II. Guidelines for genetic counselling. J Med Genet 26:712-721
11. 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
12. Lazaro C, Gaona A, Ainsworth P, Tenconi R, Vidaud D, Kruyer H, Ars E, et al (1996) Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients. Hum Genet 98:696-699
13. Leppig KA, Kaplan P, Viskochil D, Weaver M, Ortenberg J, Stephens K (1997) Familial neurofibromatosis 1 microdeletions: cosegregation with distinct facial phenotype and early onset of cutaneous neurofibromata. Am J Med Genet 73:197-204
14. Leppig KA, Viskochil D, Neil S, Rubenstein A, Johnson VP, Zhu XL, Brothman AR, et al (1996) The detection of contiguous gene deletions at the neurofibromatosis 1 locus with fluorescence in situ hybridization. Cytogenet Cell Genet 72: 95-98
15. Lopes J, LeGuern E, Gouider R, Tardieu S, Abbas N, Birouk N, Gugenheim M, et al (1996) Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT Collaborative Research Group. Am J Hum Genet 58:1223-1230
16. Lopes J, Ravise N, Vandenberghe A, Palau F, Ionasescu V, Mayer M, Levy N, et al (1998) Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination. Hum Mol Genet 7:141-148
17. Lopes J, Vandenberghe A, Tardieu S, Ionasescu V, Levy N, Wood N, Tachi N, et al (1997) Sex-dependent rearrangements resulting in CMT1A and HNPP. Nat Genet 17: 136-137
18. López-Correa C, Brems H, Lazaro C, Estivill X, Clementi M, Mason S, Marynen P, et al (1999a) Inter-chromosomal homologous recombination could mediate large NF1 gene deletions. Am J Hum Genet Suppl 65:A8
19. López-Correa C, Brems H, Lazaro C, Estivill X, Clementi M, Mason S, Rutkowski JL, et al (1999b) Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions. Hum Mutat 14:387-393
20. Perez Jurado LA, Wang YK, 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
21. Potocki L, Chen KS, Park SS, Osterholm DE, Withers MA, Kimonis V, Summers AM, et al (2000) Molecular mechanism for duplication 17p11.2-the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat Genet 24:84-87
22. Rasmussen SA, Colman SD, Ho VT, Abernathy CR, Arn PH, Weiss L, Schwartz C, et al (1998) Constitutional and mosaic large NF1 gene deletions in Neurofibromatosis type 1. J Med Genet 35:468-471
23. Riva P, Corrado L, Natacci F, Castorina P, Wu BL, Schneider GH, Clementi M, et al (2000) NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes. Am J Hum Genet 66: 100-109
24. 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
25. Tonsgard JH, Yelavarthi KK, Cushner S, Short MP, Lindgren V (1997) Do NF1 gene deletions result in a characteristic phenotype? Am J Med Genet 73:80-86
26. Upadhyaya M, Ruggieri M, Maynard J, Osborn M, Hartog C, Mudd S, Penttinen M, et al (1998) 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 102:591-597
27. 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
28. Wu BL, Austin MA, Schneider GH, Boles RG, Korf BR (1995) Deletion of the entire NF1 gene detected by FISH: four deletion patients associated with severe manifestations. Am J Med Genet 59:528-535
29. Wu BL, Schneider GH, Korf BR (1997) Deletion of the entire NF1 gene causing distinct manifestations in a family. Am J Med Genet 69:98-101
30. Wu R, López-Correa C, Rutkowski JL, Baumbach LL, Glover TW, Legius E (1999) Germline mutations in NF1 patients with malignancies. Genes Chromosomes Cancer 26: 376-380