Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: Implications for complexity in Gaucher disease

American Journal of Human Genetics

Volumn 72, Issue 3, 2003, Pages 519-534

  Tayebi, Nahid ^a   Stubblefield, Barbara K ^a   Park, Joseph K ^a   Orvisky, Eduard ^a   Walker, Jamie M ^a   LaMarca, Mary E ^a   Sidransky, Ellen ^a,b  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b Section on Molecular Neurogenetics   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSYLCERAMIDASE; MICROSATELLITE DNA;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CHILD; CONTROLLED STUDY; CROSSING OVER; DISEASE CLASSIFICATION; DNA DETERMINATION; GAUCHER DISEASE; GENE CONVERSION; GENE DUPLICATION; GENE FUSION; GENE IDENTIFICATION; GENE MUTATION; GENE REARRANGEMENT; GENE SEQUENCE; GENE STRUCTURE; GENETIC RECOMBINATION; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; HUMAN; LETHALITY; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECOMBINANT GENE; SOUTHERN BLOTTING;

EID: 0037371235     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/367850     Document Type: Article

References (78)

1. Aarskog NK, Vedeler CA (2001) Recombination breakpoints in the Charcot-Marie-Tooth 1A repeat sequence in Norwegian families. Acta Neurol Scand 104:97-100
2. Armstrong LC, Komiya T, Bergman BE, Mihara K, Bornstein P (1997) Metaxin is a component of a preprotein import complex in the outer membrane of the mammalian mitochondrion. J Biol Chem 272:6510-6518
3. Batzer MA, Deininger PL (2002) Alu repeats and human genomic diversity. Nat Rev Genet 3:370-379
4. Bell SJ, Chow YC, Ho JY, Forsdyke DR (1998) Correlation of chi orientation with transcription indicates a fundamental relationship between recombination and transcription. Gene 216:285-292
5. Beutler E, Grabowski GA (2001) Gaucher disease. In: Scriver CR, Beaudet AL, Valle D, Sly WS (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 3635-3668
6. Beutler E, Gelbart T (1998) Hematologically important mutations: Gaucher disease. Blood Cells Mol Dis 24:2-8
7. Beutler E, Gelbart T, Demina A, Zimran A, LeCoutre P (1995) Five new Gaucher disease mutations. Blood Cells Mol Dis 21:20-24
8. Birot AM, Bouton O, Froissart R, Maire I, Bozon D (1996) IDS gene-pseudogene exchange responsible for an intragenic deletion in a Hunter patient. Hum Mutat 8:44-50
9. Blanco-Gelaz MA, Lopez-Vazquez A, Garcia-Fernandez S, Martinez-Borra J, Gonzalez S, Lopez-Larrea C (2001) Genetic variability, molecular evolution, and geographic diversity of HLA-B27. Hum Immunol 62:1042-1050
10. Bogdanova N, Markoff A, Gerke V, McCluskey M, Horst J, Dworniczak B (2001) Homologues to the first gene for autosomal dominant polycystic kidney disease are pseudogenes. Genomics 74:333-341
11. Brooks EM, Branda RF, Nicklas JA, O'Neill JP (2001) Molecular description of three macro-deletions and an Alu-Alu recombination-mediated duplication in the HPRT gene in four patients with Lesch-Nyhan disease. Mutat Res 476:43-54
12. Bunge S, Rathmann M, Steglich C, Bondeson ML, Tylki-Szymanska A, Popowska E, Gal A (1998) Homologous non-allelic recombinations between the iduronate-sulfatase gene and pseudogene cause various intragenic deletions and inversions in patients with mucopolysaccharidosis type II. Eur J Hum Genet 6:492-500
13. Chen KS, Manian P, Koeuth T, Potocki L, Zhao Q, Chinault AC, Lee CC, Lupski JR (1997) Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat Genet 17:154-163
14. Cormand B, Diaz A, Grinberg D, Chabas A, Vilageliu L (2000) A new gene-pseudogene fusion allele due to a recombination in intron 2 of the glucocerebrosidase gene causes Gaucher disease. Blood Cells Mol Dis 26:409-416
15. Dracopoulou-Vabouli M, Maniati-Christidi M, Dacou-Voutetakis C (2001) The spectrum of molecular defects of the CYP21 gene in the Hellenic population: variable concordance between genotype and phenotype in the different forms of congenital adrenal hyperplasia. J Clin Endocrinol Metab 86:2845-2848
16. Eichler EE (2001) Recent duplication, domain accretion and the dynamic mutation of the human genome. Trends Genet 17:661-669
17. Emanuel BS, Shaikh TH (2001) Segmental duplications: an "expanding" role in genomic instability and disease. Nat Rev Genet 2:791-800
18. Eyal N, Wilder S, Horowitz M (1990) Prevalent and rare mutations among Gaucher patients. Gene 96:277-283
19. Filocamo M, Bonuccelli G, Mazzotti R, Giona F, Gatti R (2000) Identification of a novel recombinant allele in three unrelated Italian Gaucher patients: implications for prognosis and genetic counseling. Blood Cells Mol Dis 26:307-311
20. Fu TJ, Tse-Dinh YC, Seeman NC (1994) Holliday junction crossover topology. J Mol Biol 236:91-105
21. Hatton CE, Cooper A, Whitehouse C, Wraith JE (1997) Mutation analysis in 46 British and Irish patients with Gaucher's disease. Arch Dis Child 77:17-22
22. Hattori Y (1999) [Globin gene mutation is a model of genetic abnormalities]. Rinsho Byori 47:244-251
23. Hodanova K, Hrebicek M, Cervenkova M, Mrazova L, Veprekova L, Zeman J (1999) Analysis of the beta-glucocerebrosidase gene in Czech and Slovak Gaucher patients: mutation profile and description of six novel mutant alleles. Blood Cells Mol Dis 25:287-298
24. Horowitz M, Wilder S, Horowitz Z, Reiner O, Gelbart T, Beutler E (1989) The human glucocerebrosidase gene and pseudogene: structure and evolution. Genomics 4:87-96
25. Hurles ME (2001) Gene conversion homogenizes the CMT1A paralogous repeats. BMC Genomics 2:11
26. Inoue K, Dewar K, Katsanis N, Reiter LT, Lander ES, Devon KL, Wyman DW, Lupski JR, Bitten B (2001) The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes. Genome Res 11:1018-1033
27. Jagla WM, Jagle H, Hayashi T, Sharpe LT, Deeb SS (2002) The molecular basis of dichromatic color vision in males with multiple red and green visual pigment genes. Hum Mol Genet 11:23-32
28. Ji Y, Eichler EE, Schwartz S, Nicholls RD (2000) Structure of chromosomal duplicons and their role in mediating human genomic disorders. Genome Res 10:597-610
29. Karsten SL, Lagerstedt K, Carlberg BM, Kleijer WJ, Zaremba J, Van Diggelen OP, Czartoryska B, Pettersson U, Bondeson ML (1997) Two distinct deletions in the IDS gene and the gene W: a novel type of mutation associated with the Hunter syndrome. Genomics 43:123-129
30. Koprivica V, Stone DL, Park JK, Callahan M, Frisch A, Cohen IJ, Tayebi N, Sidransky E (2000) Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. Am J Hum Genet 66:1777-1786
31. Kutsche K, Ressler B, Katzera HG, Orth U, Gillessen-Kaesbach G, Morlot S, Schwinger E, Gal A (2002) Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genes. Hum Mutat 19:526-535
32. Latham T, Grabowski GA, Theophilus BD, Smith FI (1990) Complex alleles of the acid β-glucosidase gene in Gaucher disease. Am J Hum Genet 47:79-86
33. Lau EK, Tayebi N, Ingraham LJ, Winfield SL, Koprivica V, Stone DL, Zimran A, Ginns EI, Sidransky E (1999) Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher disease. Hum Genet 104:293-300
34. Liskay RM, Letsou A, Stachelek JL (1987) Homology requirement for efficient gene conversion between duplicated chromosomal sequences in mammalian cells. Genetics 115:161-167
35. Lobato MN, Aledo R, Meseguer A (1998) High variability of CYP21 gene rearrangements in Spanish patients with classic form of congenital adrenal hyperplasia. Hum Hered 48:216-225
36. Long GL, Winfield S, Adolph KW, Ginns EI, Bornstein P (1996) Structure and organization of the human metaxin gene (MTX) and pseudogene. Genomics 33:177-184
37. Lopes J, Tardieu S, Silander K, Blair I, Vandenberghe A, Palau F, Ruberg M, Brice A, LeGuern E (1999) Homologous DNA exchanges in humans can be explained by the yeast double-strand break repair model: a study of 17p11.2 rearrangements associated with CMT1A and HNPP. Hum Mol Genet 8:2285-2292
38. Lucas RE, Vlangos CN, Das P, Patel PI, Elsea SH (2001) Genomic organization of the approximately 1.5 Mb Smith-Magenis syndrome critical interval: transcription map, genomic contig, and candidate gene analysis. Eur J Hum Genet 9:892-902
39. Lupski JR (1998) Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 14:417-422
40. Lutskiy MI, Jones LN, Rosen FS, Remold-O'Donnell E (2002) An Alu-mediated deletion at Xp11.23 leading to Wiskott-Aldrich syndrome. Hum Genet 110:515-519
41. Martinez J, Dugaiczyk LJ, Zielinski R, Dugaiczyk A (2001) Human genetic disorders, a phylogenetic perspective. J Mol Biol 308:587-596
42. Mazzarella R, Schlessinger D (1998) Pathological consequences of sequence duplications in the human genome. Genome Res 8:1007-1021
43. Metzenberg AB, Wurzer G, Huisman TH, Smithies O (1991) Homology requirements for unequal crossing over in humans. Genetics 128:143-161
44. Mistry PK, Smith SJ, Ali M, Hatton CS, McIntyre N, Cox TM (1992) Genetic diagnosis of Gaucher's disease. Lancet 339:889-892
45. Orvisky E, Park JK, Parker A, Walker JM, Martin BM, Stubblefield BK, Uyama E, Tayebi N, Sidransky E (2002) The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease. Hum Mutat 19:458-459
46. Papadakis MN, Patrinos GP (1999) Contribution of gene conversion in the evolution of the human beta-like globin gene family. Hum Genet 104:117-125
47. Park JK, Tayebi N, Stubblefield BK, LaMarca ME, MacKenzie JJ, Stone DL, Sidransky E (2002a) The E326K mutation and Gaucher disease: mutation or polymorphism? Clin Genet 61:32-34
48. Park SS, Stankiewicz P, Bi W, Shaw C, Lehoczky J, Dewar K, Birren B, Lupski JR (2002b) Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs. Genome Res 12:729-738
49. Petes TD (2001) Meiotic recombination hot spots and cold spots. Nat Rev Genet 2:360-369
50. Purandare SM, Patel PI (1997) Recombination hot spots and human disease. Genome Res 7:773-786
51. Reissner K, Tayebi N, Stubblefield BK, Koprivica V, Blitzer M, Holleran W, Cowan T, Almashanu S, Maddalena A, Karson EM, Sidransky E (1998) Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus. Mol Genet Metab 63:281-288
52. Sambrook J, Fritsch EF, Maniatis T (1989) Molecular cloning: a laboratory manual. Cold Spring Harbor, New York pp 9.14-9.22
53. Shaw CJ, Bi W, Lupski JR (2002) Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2. Am J Hum Genet 71:1072-1081
54. Sitnikova T, Su C (1998) Coevolution of immunoglobulin heavy- and light-chain variable-region gene families. Mol Biol Evol 15:617-625
55. Stankiewicz P, Lupski JR (2002a) Genome architecture, rearrangements and genomic disorders. Trends Genet 18:74-82
56. _ (2002b) Molecular evolutionary mechanisms for genomic disorders. Curr Opin Genet Dev 12:312-319
57. Stone DL, Tayebi N, Orvisky E, Stubblefield B, Madike V, Sidransky E (2000) Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. Hum Mutat 15:181-188
58. Strachan T, Read AP (1999) Human molecular genetics 2. Wiley-Liss, New York
59. Strasberg PM, Skomorowski MA, Warren IB, Hilson WL, Callahan JW, Clarke JT (1994) Homozygous presence of the crossover (fusion gene) mutation identified in a type II Gaucher disease fetus: is this analogous to the Gaucher knock-out mouse model? Biochem Med Metab Biol 53:16-21
60. Tayebi N, Callahan M, Madike V, Stubblefield BK, Orvisky E, Krasnewich D, Fillano JJ, Sidransky E (2001) Gaucher disease and parkinsonism: a phenotypic and genotypic characterization. Mol Genet Metab 73:313-321
61. Tayebi N, Cushner SR, Kleijer W, Lau EK, Damschroder-Williams PJ, Stubblefield BK, Den Hollander J, Sidransky E (1997) Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase gene. Am J Med Genet 73:41-47
62. Tayebi N, Cushner S, Sidransky E (1996a) Differentiation of the glucocerebrosidase gene from pseudogene by long-template PCR: implications for Gaucher disease. Am J Hum Genet 59:740-741
63. Tayebi N, Park J, Madike V, Sidransky E (2000) Gene rearrangement on 1q21 introducing a duplication of the glucocerebrosidase pseudogene and a metaxin fusion gene. Hum Genet 107:400-403
64. Tayebi N, Reissner KJ, Lau EK, Stubblefield BK, Klineburgess AC, Martin BM, Sidransky E (1998) Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease. Pediatr Res 43:571-578
65. Tayebi N, Stern H, Dymarskaia I, Herman J, Sidransky E (1996b) 55-base pair deletion in certain patients with Gaucher disease complicates screening for common Gaucher alleles. Am J Med Genet 66:316-319
66. Timms KM, Bondeson ML, Ansari-Lari MA, Lagerstedt K, Muzny DM, Dugan-Rocha SP, Nelson DL, Pettersson U, Gibbs RA (1997) Molecular and phenotypic variation in patients with severe Hunter syndrome. Hum Mol Genet 6:479-486
67. Tusie-Luna MT, White PC (1995) Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms. Proc Natl Acad Sci USA 92:10796-10800
68. Vollrath D, Nathans J, Davis RW (1988) Tandem array of human visual pigment genes at Xq28. Science 240:1669-1672
69. Wahls WP (1998) Meiotic recombination hotspots: shaping the genome and insights into hypervariable minisatellite DNA change. Curr Top Dev Biol 37:37-75
70. Walley AJ, Harris A (1993) A novel point mutation (D380A) and a rare deletion (1255del55) in the glucocerebrosidase gene causing Gaucher's disease. Hum Mol Genet 2:1737-1738
71. Watnick TJ, Gandolph MA, Weber H, Neumann HP, Germino GG (1998) Gene conversion is a likely cause of mutation in PKD1. Hum Mol Genet 7:1239-1243
72. Waye JS, Eng B, Patterson M, Carcao MD, Chang L, Olivieri NF, Chui DH (2001) Identification of two new alpha-thalassemia mutations in exon 2 of the alphal-globin gene. Hemoglobin 25:391-396
73. Weaver RF, Hedrick PW (1989) The mechanism of recombination. In: Kane K (ed) Genetics. Wm C. Brown, Dubuque, IA, pp 184-189
74. Wedell A (1998) Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): implications for diagnosis, prognosis and treatment. Acta Paediatr 87:159-164
75. Winfield SL, Tayebi N, Martin BM, Ginns EI, Sidransky E (1997) Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease. Genome Res 7:1020-1026
76. Zhao H, Grabowski GA (2002) Gaucher disease: perspectives on a prototype lysosomal disease. Cell Mol Life Sci 59:694-707
77. Zimran A, Horowitz M (1994) RecTL: a complex allele of the glucocerebrosidase gene associated with a mild clinical course of Gaucher disease. Am J Med Genet 50:74-78
78. Zimran A, Sorge J, Gross E, Kubitz M, West C, Beutler E (1990) A glucocerebrosidase fusion gene in Gaucher disease: implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder. J Clin Invest 85:219-222