Meta-analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage

Human Mutation

Volumn 25, Issue 2, 2005, Pages 207-221

  Chen, Jian Min ^a,c   Chuzhanova, Nadia ^b   Stenson, Peter D ^b   Férec, Claude ^a   Cooper, David N ^b  

^a UNIVERSITÉ DE BRETAGNE OCCIDENTALE   (France)

^b CARDIFF UNIVERSITY   (United Kingdom)

^c INSERM   (France)

Author keywords

Duplication; Gross insertion; LINE 1; Mechanism; Meta analysis; Mitochondrial nuclear transfer; Repeat expansion; Slipped strand mispairing; trans replication slippage; Unequal crossover

Indexed keywords

CELL DNA; MITOCHONDRIAL DNA;

ARTICLE; CROSSING OVER; DNA REPLICATION; GENE; GENE DUPLICATION; GENE INSERTION; HUMAN; META ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PRNP GENE; USH1C GENE;

BASE SEQUENCE; CELL NUCLEUS; DNA MUTATIONAL ANALYSIS; DNA REPEAT EXPANSION; DNA REPLICATION; GENES, MITOCHONDRIAL; GENETIC DISEASES, INBORN; HUMANS; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; OLIGODEOXYRIBONUCLEOTIDES; RECOMBINATION, GENETIC; RETROELEMENTS;

EID: 13444294231     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20133     Document Type: Article

References (106)

1. Abeysinghe SS, Chuzhanova N, Krawczak M, Ball EV, Cooper DN. 2003. Translocation and gross deletion breakpoints in human inherited disease and cancer I. Nucleotide composition and recombination-associated motifs. Hum Mutat 22:229-244.
2. Abeysinghe SS, Stenson PD, Krawczak M, Cooper DN. 2004. Gross Rearrangement Breakpoint Database (GRaBD). Hum Mutat 23:219-221.
3. Ahmed ZM, Smith TN, Riazuddin S, Makishima T, Ghosh M, Bokhari S, Menon PS, Deshmukh D, Griffith AJ, Riazuddin S, Friedman TB, Wilcox ER. 2002. Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USH1C. Hum Genet 110:527-531.
4. Alward WL, Kwon YH, Khanna CL, Johnson AT, Hayreh SS, Zimmerman MB, Narkiewicz J, Andorf JL, Moore PA, Fingert JH, Sheffield VC, Stone EM. 2002. Variations in the myocilin gene in patients with open-angle glaucoma. Arch Ophthalmol 120:1189-1197.
5. Audrezet MP, Chen JM, Raguenes O, Chuzhanova N, Giteau K, Le Marechal C, Quere I, Cooper DN, Férec C. 2004. Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms. Hum Mutat 23:343-357.
6. Bashir R, Britton S, Strachan T, Keers S, Vafiadaki E, Lako M, Richard I, Marchand S, Bourg N, Argov Z, Sadeh M, Mahjneh I, Marconi G, Passos-Bueno MR, Moreira Ede S, Zatz M, Beckmann JS, Bushby K. 1998. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet 20:37-42.
7. Bensasson D, Feldman MW, Petrov DA. 2003. Rates of DNA duplication and mitochondrial DNA insertion in the human genome. J Mol Evol 57:343-354.
8. Bi X, Liu LF. 1994. recA-independent and recA-dependent intramolecular plasmid recombination. Differential homology requirement and distance effect. J Mol Biol 235:414-423.
9. Bianchi P, Zanella A, Alloisio N, Barosi G, Bredi E, Pelissero G, Zappa M, Vercellati C, Baronciani L, Delaunay J, Sirchia G. 1997. A variant of the EPB3 gene of the anti-Lepore type in hereditary spherocytosis. Br J Haematol 98:283-288.
10. Bogdanova N, McCluskey M, Sikmann K, Markoff A, Todorov V, Dimitrakov D, Schiavello T, Thomas M, Kalaydjieva L, Dworniczak B, Horst J. 2000. Screening the 3′ region of the polycystic kidney disease 1 (PKD1) gene in 41 Bulgarian and Australian kindreds reveals a prevalence of protein truncating mutations. Hum Mutat 16:166-174.
11. Bogdanova N, Markoff A, Pollmann H, Nowak-Gottl U, Eisert R, Dworniczak B, Eigel A, Horst J. 2002. Prevalence of small rearrangements in the factor VIII gene F8C among patients with severe hemophilia A. Hum Mutat 20:236-237.
12. Breuer DK, Yashar BM, Filippova E, Hiriyanna S, Lyons RH, Mears AJ, Asaye B, Acar C, Vervoort R, Wright AF, Musarella MA, Wheeler P, MacDonald I, Iannaccone A, Birch D, Hoffman DR, Fishman GA, Heckenlively JR, Jacobson SG, Sieving PA, Swaroop A. 2002. A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. Am J Hum Genet 70:1545-1554.
13. Brouha B, Schustak J, Badge RM, Lutz-Prigge S, Farley AH, Moran JV, Kazazian HH Jr. 2003. Hot L1s account for the bulk of retrotransposition in the human population. Proc Natl Acad Sci USA 100:5280-5285.
14. Brown LY, Brown SA. 2004. Alanine tracts: the expanding story of human illness and trinucleotide repeats. Trends Genet 20: 51-58.
15. Carpten JD, Robbins CM, Villablanca A, Forsberg L, Presciuttini S, Bailey-Wilson J, Simonds WF, Gillanders EM, Kennedy AM, Chen JD, Agarwal SK, Sood R, Jones MP, Moses TY, Haven C, Petillo D, Leotlela PD, Harding B, Cameron D, Pannett AA, Hoog A, Heath H 3rd, James-Newton LA, Robinson B, Zarbo RJ, Cavaco BM, Wassif W, Perrier ND, Rosen IB, Kristoffersson U, Turnpenny PD, Farnebo LO, Besser GM, Jackson CE, Morreau H, Trent JM, Thakker RV, Marx SJ, Teh BT, Larsson C, Hobbs MR. 2002. HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nat Genet 32: 676-680.
16. Chedin F, Dervyn E, Dervyn R, Ehrlich SD, Noirot R 1994. Frequency of deletion formation decreases exponentially with distance between short direct repeats. Mol Microbiol 12: 561-569.
17. Chen X, Kinoshita K, Honjo T. 2001. Variable deletion and duplication at recombination junction ends: implication for staggered double-strand cleavage in class-switch recombination. Proc Natl Acad Sci USA 98:13860-13865.
18. Chillon M, Casals T, Nunes V, Gimenez J, Estivill X. 1993. Identification of a 31-bp insertion (3860ins31) in exon 20 of the cystic fibrosis (CFTR) gene. Hum Mol Genet 2:1317-1318.
19. Chung MY, Ranum LP, Duvick LA, Servadio A, Zoghbi HY, Orr HT. 1993. Evidence for a mechanism predisposing to inter-generational CAG repeat instability in spinocerebellar ataxia type I. Nat Genet 5:254-258.
20. Chuzhanova NA, Anassis EJ, Ball EV, Krawczak M, Cooper DN. 2003a. Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity. Hum Mutat 21:28-44.
21. Chuzhanova N, Abeysinghe SS, Krawczak M, Cooper DN. 2003b. Translocation and gross deletion breakpoints in human inherited disease and cancer II: potential involvement of repetitive sequence elements in secondary structure formation between DNA ends. Hum Mutat 22:245-251.
22. Cooper DN, Krawczak M. 1991. Mechanisms of insertional mutagenesis in human genes causing genetic disease. Hum Genet 87:409-415.
23. Cooper DN, Krawczak M. 1993. Human gene mutation. Oxford: BIOS Scientific Publishers. 412 p.
24. Cserhalmi-Friedman PB, Baden H, Burgeson RE, Christiano AM. 1998. Molecular basis of non-lethal junctional epidermolysis bullosa: identification of a 38 basepair insertion and a splice site mutation in exon 14 of the LAMB3 gene. Exp Dermatol 7:105-111.
25. Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chung J, Choy YS, Reeve MP, Thiele E, Egelhoff JC, Kasprzyk-Obara J, Domanska-Pakiela D, Kwiatkowski DJ. 2001. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet 68:64-80.
26. Dewannieux M, Esnault C, Heidmann T. 2003. LINE-mediated retrotransposition of marked Alu sequences. Nat Genet 35:41-48.
27. Djian P. 1998. Evolution of simple repeats in DNA and their relation to human disease. Cell 94:155-160.
28. Dunn JM, Phillips RA, Zhu X, Becker A, Gallie BL. 1989. Mutations in the RB1 gene and their effects on transcription. Mol Cell Biol 9:4596-4604.
29. Eichler EE, Macpherson JN, Murray A, Jacobs PA, Chakravarti A, Nelson DL. 1996. Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome. Hum Mol Genet 5: 319-330.
30. Friedl W, Caspari R, Sengteller M, Uhlhaas S, Lamberti C, Jungck M, Kadmon M, Wolf M, Fahnenstich J, Gebert J, Moslein G, Mangold E, Propping P. 2001. Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families. Gut 48:515-521.
31. Giampieri C, Centurelli M, Bonafe M, Olivieri F, Cardelli M, Marchegiani F, Cavallone L, Giovagnetti S, Mugianesi E, Carrieri G, Lisa R, Cenerelli S, Testa R, Boemi M, Petropoulou C, Gonos ES, Franceschi C. 2004. A novel mitochondrial DNA-like sequence insertion polymorphism in intron I of the FOXO1A gene. Gene 327:215-219.
32. Godart F, Bellanne-Chantelot C, Clauin S, Gragnoli C, Abderrahmani A, Blanche H, Boutin P, Chevre JC, Froguel P, Bailleul B. 2000. Identification of seven novel nucleotide variants in the hepatocyte nuclear factor-1alpha (TCF1) promoter region in MODY patients. Hum Mutat 15:173-180.
33. Goldfarb LG, Brown P, McCombie WR, Goldgaber D, Swergold GD, Wills PR, Cervenakova L, Baron H, Gibbs CJ Jr, Gajdusek DC. 1991. Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene. Proc Natl Acad Sci USA 88:10926-10930.
34. Gusev VD, Nemytikova LA, Chuzhanova NA. 1999. On the complexity measures of genetic sequences. Bioinformatics 15:994-999.
35. Hamalainen ER, Renieri A, Pecoraro C, De Marchi M, Pihlajaniemi T. 1996. Unequal homologous crossing over resulting in duplication of 36 base pairs within exon 47 of the COL4A5 gene in a family with Alport syndrome. Hum Mutat 8:265-269.
36. Hansen LL, Horn N, Dahl HH, Kruse TA. 1994. Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1 alpha subunit. Hum Mol Genet 3:1021-1022.
37. Henze K, Martin W. 2001. How do mitochondrial genes get into the nucleus? Trends Genet 17:383-387.
38. Hoorntje T, Alders M, van Tintelen P, van der Lip K, Sreeram N, van der Wal A, Mannens M, Wilde A. 1999. Homozygous premature truncation of the HERG protein: the human HERG knockout. Circulation 100:1264-1267.
39. Huang CY, Ayliffe MA, Timmis JN. 2003. Direct measurement of the transfer rate of chloroplast DNA into the nucleus. Nature 422:72-76.
40. Hughes AE, Ralston SH, Marken J, Bell C, MacPherson H, Wallace RG, van Hul W, Whyte MP, Nakatsuka K, Hovy L, Anderson DM. 2000. Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis. Nat Genet 24:45-48.
41. Jinks-Robertson S, Michelitch M, Ramcharan S. 1993. Substrate length requirements for efficient mitotic recombination in Saccharomyces cerevisiae. Mol Cell Biol 13:3937-3950.
42. Kawakami H, Inoue K, Sakakihara I, Nakamura S. 2002. Novel mutation in X-linked Charcot-Marie-Tooth disease associated with CNS impairment. Neurology 59:923-926.
43. Kazazian HH, Jr. 2004. Mobile elements: drivers of genome evolution. Science 303:1626-1632.
44. Kornreich R, Bishop DF, Desnick RJ. 1990. Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene. J Biol Chem 265:9319-9326.
45. Krawczak M, Cooper DN. 1991. Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum Genet 86:425-441.
46. Krawczak M, Ball EV, Cooper DN. 1998. Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes. Am J Hum Genet 63:474-488.
47. Kunkel TA, Soni A. 1988. Mutagenesis by transient misalignment. J Biol Chem 263:14784-14789.
48. Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon K, Dewar K, Doyle M, FitzHugh W, Funke R, Gage D, Harris K, Heaford A, Howland J, Kann L, Lehoczky J, LeVine R, McEwan P, McKernan K, Meldrim J, Mesirov JP, Miranda C, Morris W, Naylor J, Raymond C, Rosetti M, Santos R, Sheridan A, Sougnez C, Stange-Thomann N, Stojanovic N, Subramanian A, Wyman D, Rogers J, Sulston J, Ainscough R, Beck S, Bentley D, Burton J, Clee C, Carter N, Coulson A, Deadman R, Deloukas P, Dunham A, Dunham I, Durbin R, French L, Grafham D, Gregory S, Hubbard T, Humphray S, Hunt A, Jones M, Lloyd C, McMurray A, Matthews L, Mercer S, Milne S, Mullikin JC, Mungall A, Plumb R, Ross M, Shownkeen R, Sims S, Waterston RH, Wilson RK, Millier LW, McPherson JD, Marra MA, Mardis ER, Fulton LA, Chinwalla AT, Pepin KH, Gish WR, Chissoe SL, Wendl MC, Delehaunty KD, Miner TL, Delehaunty A, Kramer JB, Cook LL, Fulton RS, Johnson DL, Minx PJ, Clifton SW, Hawkins T, Branscomb E, Predki P, Richardson P, Wenning S, Slezak T, Doggett N, Cheng JF, Olsen A, Lucas S, Elkin C, Uberbacher E, Frazier M, Gibbs RA, Muzny DM, Scherer SE, Bouck JB, Sodergren EJ, Worley KC, Rives CM, Gorrell JH, Metzker ML, Naylor SL, Kucherlapati RS, Nelson DL, Weinstock GM, Sakaki Y, Fujiyama A, Hattori M, Yada T, Toyoda A, Itoh T, Kawagoe C, Watanabe H, Totoki Y, Taylor T, Weissenbach J, Heilig R, Saurin W, Artiguenave F, Brottier P, Bruis T, Pelletier E, Robert C, Wincker P, Smith DR, Doucette-Stamm L, Rubenfield M, Weinstock K, Lee HM, Dubois J, Rosenthal A, Platzer M, Nyakatura G, Taudien S, Rump A, Yang H, Yu J, Wang J, Huang G, Gu J, Hood L, Rowen L, Madan A, Qin S, Davis RW, Federspiel NA, Abola AP, Proctor MJ, Myers RM, Schmutz J, Dickson M, Grimwood J, Cox DR, Olson MV, Kaul R, Raymond C, Shimizu N, Kawasaki K, Minoshima S, Evans GA, Athanasiou M, Schultz R, Roe BA, Chen F, Pan H, Ramser J, Lehrach H, Reinhardt R, McCombie WR, de la Bastide M, Dedhia N, Blocker H, Hornischer K, Nordsiek G, Agarwala R, Aravind L, Bailey JA, Bateman A, Batzoglou S, Birney E, Bork P, Brown DG, Burge CB, Cerutti L, Chen HC, Church D, Clamp M, Copley RR, Doerks T, Eddy SR, Eichler EE, Furey TS, Galagan J, Gilbert JG, Harmon C, Hayashizaki Y, Haussler D, Hermjakob H, Hokamp K, Jang W, Johnson LS, Jones TA, Kasif S, Kaspryzk A, Kennedy S, Kent WJ, Kitts P, Koonin EV, Korf I, Kulp D, Lancet D, Lowe TM, McLysaght A, Mikkelsen T, Moran JV, Mulder N, Pollara VJ, Ponting CP, Schuler G, Schultz J, Slater G, Smit AF, Stupka E, Szustakowski J, Thierry-Mieg D, Thierry-Mieg J, Wagner L, Wallis J, Wheeler R, Williams A, Wolf YI, Wolfe KH, Yang SP, Yeh RF, Collins F, Guyer MS, Peterson J, Felsenfeld A, Wetterstrand KA, Patrinos A, Morgan MJ, Szustakowki J, de Jong P, Catanese JJ, Osoegawa K, Shizuya H, Choi S, Chen YJ; International Human Genome Sequencing Consortium. 2001. Initial sequencing and analysis of the human genome. Nature 409:860-921.
49. Laplanche JL, Delasnerie-Laupretre N, Brandel JP, Dussaucy M, Chatelain J, Launay JM. 1995. Two novel insertions in the prion protein gene in patients with late-onset dementia. Hum Mol Genet 4:1109-1111.
50. Li L, Bales ES, Peterson CA, Legerski RJ. 1993. Characterization of molecular defects in xeroderma pigmentosum group C. Nat Genet 5:413-417.
51. Lovett ST. 2004. Encoded errors: mutations and rearrangements mediated by misalignment at repetitive DNA sequences. Mol Microbiol 52:1243-1253.
52. Lovett ST, Gluckman TJ, Simon PJ, Sutera VA Jr, Drapkin PT. 1994. Recombination between repeats in Escherichia coli by a recA-independent, proximity-sensitive mechanism. Mol Gen Genet 245:294-300.
53. Luan DD, Korman MH, Jakubczak JL, Eickbush TH. 1993. Reverse transcription of R2Bm RNA is primed by a nick at the chromosomal target site: a mechanism for non-LTR retrotransposition. Cell 72:595-605.
54. Aγδβ)° thalassemia deletion: comparison to other deletions in the human β-globin gene cluster and sequence analysis of the breakpoints. Nucleic Acids Res 13:6559-6575.
55. Mallery DL, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR. 1998. Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. Am J Hum Genet 62:77-85.
56. Marcus S, Hellgren D, Lambert B, Fallstrom SP, Wahlstrom J. 1993. Duplication in the hypoxanthine phosphoribosyl-transferase gene caused by Alu-Alu recombination in a patient with Lesch Nyhan syndrome. Hum Genet 90:477-482.
57. Martin W. 2003. Gene transfer from organelles to the nucleus: frequent and in big chunks. Proc Natl Acad Sci USA 100: 8612-8614.
58. Michalik A, Van Broeckhoven C. 2003. Pathogenesis of polyglutamine disorders: aggregation revisited. Hum Mol Genet 12(Spec No 2):R173-R186.
59. Moran JV, Gilbert N. 2002. Mammalian LINE-1 retrotransposons and related elements. In: Craig N, Craggie R, Gellert M, Lambowitz A, editors. Mobile DNA II. Washington, DC: ASM. p 836-869.
60. Morrish TA, Gilbert N, Myers JS, Vincent BJ, Stamato TD, Taccioli GE, Batzer MA, Moran JV 2002. DNA repair mediated by endonuclease-independent LINE-1 retrotransposition. Nat Genet 31:159-165.
61. Mourier T, Hansen AJ, Willerslev E, Arctander P. 2001. The Human Genome Project reveals a continuous transfer of large mitochondrial fragments to the nucleus. Mol Biol Evol 18: 1833-1837.
62. Oshima A, Yoshida K, Ishizaki A, Shimmoto M, Fukuhara Y, Sakuraba H, Suzuki Y. 1992. GM1-gangliosidosis: tandem duplication within exon 3 of beta-galactosidase gene in an infantile patient. Clin Genet 41:235-238.
63. Ostertag EM, Kazazian HH, Jr. 2001. Biology of mammalian L1 retrotransposons. Annu Rev Genet 35:501-538.
64. Ostertag EM, Goodier JL, Zhang Y, Kazazian HH Jr. 2003. SVA elements are nonautonomous retrotransposons that cause disease in humans. Am J Hum Genet 73:1444-1451.
65. Pearson CE, Eichler EE, Lorenzetti D, Kramer SF, Zoghbi HY, Nelson DL, Sinden RR. 1998. Interruptions in the triplet repeats of SCA1 and FRAXA reduce the propensity and complexity of slipped strand DNA (S-DNA) formation. Biochemistry 37:2701-2708.
66. Perrault I, Rozet JM, Gerber S, Ghazi I, Ducroq D, Souied E, Leowski C, Bonnemaison M, Dufier JL, Munnich A, Kaplan J. 2000. Spectrum of retGC1 mutations in Leber's congenital amaurosis. Eur J Hum Genet 8:578-582.
67. Plesner P, Goodchild J, Kalckar HM, Zamecnik PC. 1987. Oligonucleotides with rapid turnover of the phosphate groups occur endogenously in eukaryotic cells. Proc Natl Acad Sci USA 84:1936-1939.
68. Puget N, Sinilnikova OM, Stoppa-Lyonnet D, Audoynaud C, Pages S, Lynch HT, Goldgar D, Lenoir GM, Mazoyer S. 1999. An Alu-mediated 6-kb duplication in the BRCA1 gene: a new founder mutation? Am J Hum Genet 64:300-302.
69. Pusch CM, Broghammer M, Jurklies B, Besch D, Jacobi FK. 2002. Ten novel ORF15 mutations confirm mutational hot spot in the RPGR gene in European patients with X-linked retinitis pigmentosa. Hum Mutat 20:405.
70. Rabbani H, de Boer M, Ahlin A, Sundin U, Elinder G, Hammarstrom L, Palmblad J, Smith CI, Roos D. 1993. A 40-base-pair duplication in the gp91-phox gene leading to X-linked chronic granulomatous disease. Eur J Haematol 51: 218-222.
71. Reiter LT, Hastings PJ, Nelis E, De Jonghe P, Van Broeckhoven C, Lupski JR. 1998. Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients. Am J Hum Genet 62:1023-1033.
72. Ripley LS. 1982. Model for the participation of quasi-palindromic DNA sequences in frameshift mutation. Proc Natl Acad Sci USA 79:4128-4132.
73. Roth DB, Porter TN, Wilson JH. 1985. Mechanisms of nonhomologous recombination in mammalian cells. Mol Cell Biol 5:2599-2607.
74. Roth DB, Chang XB, Wilson JH. 1989. Comparison of filler DNA at immune, nonimmune, and oncogenic rearrangements suggests multiple mechanisms of formation. Mol Cell Biol 9:3049-3057.
75. Roth DB, Proctor GN, Stewart LK, Wilson JH. 1991. Oligonucleotide capture during end joining in mammalian cells. Nucleic Acids Res 19:7201-7205.
76. Shen P, Huang HV. 1986. Homologous recombination in Escherichia coli: dependence on substrate length and homology. Genetics 112:441-457.
77. Sinden RR. 1999. Biological implications of the DNA structures associated with disease-causing triplet repeats. Am J Hum Genet 64:346-353.
78. Sinden RR, Potaman VN, Oussatcheva EA, Pearson CE, Lyubchenko YL, Shlyakhtenko LS. 2002. Triplet repeat DNA structures and human genetic disease: dynamic mutations from dynamic DNA. J Biosci 27(Suppl 1):53-65.
79. Singer BS, Gold L, Gauss P, Doherty DH. 1982. Determination of the amount of homology required for recombination in bacteriophage T4. Cell 31:25-33.
80. Smith M, Sperling D. 1999. Novel 23-base-pair duplication mutation in TSC1 exon 15 in an infant presenting with cardiac rhabdomyomas. Am J Med Genet 84:346-349.
81. Stegemann S, Hartmann S, Ruf S, Bock R. 2003. High-frequency gene transfer from the chloroplast genome to the nucleus. Proc Natl Acad Sci USA 100:8828-8833.
82. Stenson PD, Ball EV, Mort M, Phillips AD, Shiel JA, Thomas NS, Abeysinghe S, Krawczak M, Cooper DN. 2003. Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat 21:577-581.
83. Stoppa-Lyonnet D, Duponchel C, Meo T, Laurent J, Carter PE, Arala-Chaves M, Cohen JH, Dewald G, Goetz J, Hauptmann G, Lagrue G, Lesavre P, Lopez-Trascasa M, Misiano G, Moraine C, Sobel A, Spath PJ, Tosi M. 1991. Recombinational biases in the rearranged C1-inhibitor genes of hereditary angioedema patients. Am J Hum Genet 49:1055-1062.
84. Strachan T, Read AP. 2004. Human molecular genetics 3, 3rd edition. New York: John Wiley & Sons, p 329.
85. Strand M, Prolla TA, Liskay RM, Petes TD. 1993. Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair. Nature 365:274-276.
86. Streisinger G, Okada Y, Emrich J, Newton J, Tsugita A, Terzaghi E, Inouye M. 1966. Frameshift mutations and the genetic code. Cold Spring Harb Symp Quant Biol 31:77-84.
87. Tartary M, Vidaud D, Piao Y, Costa JM, Bahnak BR, Fressinaud E, Congard B, Laurian Y, Meyer D, Lavergne JM, Vidaud M. 1993. Detection of a molecular defect in 40 of 44 patients with haemophilia B by PCR and denaturing gradient gel electrophoresis. Br J Haematol 84:662-669.
88. Thai TH, Purugganan MM, Roth DB, Kearney JF. 2002. Distinct and opposite diversifying activities of terminal transferase splice variants. Nat Immunol 3:457-462.
89. Tiller GE, Rimoin DL, Murray LW, Cohn DH. 1990. Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia. Proc Natl Acad Sci USA 87:3889-3893.
90. Tourmen Y, Baris O, Dessen P, Jacques C, Malthiery Y, Reynier P. 2002. Structure and chromosomal distribution of human mitochondrial pseudogenes. Genomics 80:71-77.
91. Turner C, Killoran C, Thomas NS, Rosenberg M, Chuzhanova NA, Johnston J, Kemel Y, Cooper DN, Biesecker LG. 2003. Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer. Hum Genet 112:303-309.
92. Van de Water N, Williams R, Ockelford P, Browett P. 1998. A 20.7 kb deletion within the factor VIII gene associated with LINE-1 element insertion. Thromb Haemost 79:938-942.
93. van Slegtenhorst M, Verhoef S, Tempelaars A, Bakker L, Wang Q, Wessels M, Bakker R, Nellist M, Lindhout D, Halley D, van den Ouweland A. 1999. Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation. J Med Genet 36:285-289.
94. Vervoort R, Lennon A, Bird AC, Tulloch B, Axton R, Miano MG, Meindl A, Meitinger T, Ciccodicola A, Wright AF. 2000. Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. Nat Genet 25:462-466.
95. Vorechovsky I, Luo L, Prudente S, Chessa L, Russo G, Kanariou M, James M, Negrini M, Webster AD, Hammarstrom L. 1996. Exon-scanning mutation analysis of the ATM gene in patients with ataxia-telangiectasia. Eur J Hum Genet 4:352-355.
96. Waldman AS, Liskay RM. 1988. Dependence of intrachromosomal recombination in mammalian cells on uninterrupted homology. Mol Cell Biol 8:5350-5357.
97. Walker GJ, Hussussian CJ, Flores JF, Glendening JM, Haluska FG, Dracopoli NC, Hayward NK, Fountain JW. 1995. Mutations of the CDKN2/p16INK4 gene in Australian melanoma kindreds. Hum Mol Genet 4:1845-1852.
98. Warren ST. 1997. Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13. Science 275:408-409.
99. Weber B, Guo XH, Kleijer WJ, van de Kamp JJ, Foorthuis BJ, Hopwood JJ. 1999. Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. Eur J Hum Genet 7:34-44.
100. Wildin RS, Antush MJ, Bennett RL, Schoof JM, Scott CR. 1994. Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus. Am J Hum Genet 55:266-277.
101. Willett-Brozick JE, Savul SA, Richey LE, Baysal BE. 2001. Germ line insertion of mtDNA at the breakpoint junction of a reciprocal constitutional translocation. Hum Genet 109:216-223.
102. Wilson FJ, Ramesh V, Kristiansen A, Bove C, Jozwiak S, Kwiatkowski DJ, Short MP, Haines JL. 1996. Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients. Hum Mol Genet 5:249-256.
103. Woischnik M, Moraes CT. 2002. Pattern of organization of human mitochondrial pseudogenes in the nuclear genome. Genome Res 12:885-893.
104. Wu SM, Hallermeier KM, Laue L, Brain C, Berry AC, Grant DB, Griffin JE, Wilson JD, Cutler GB, Jr, Chan WY. 1998. Inactivation of the luteinizing hormone/chorionic gonadotropin receptor by an insertional mutation in Leydig cell hypoplasia. Mol Endocrinol 12:1651-1660.
105. Yamanouchi Y, Takano T, Hamaguchi H, Tokunaga K. 2001. A novel apolipoprotein E5 variant with a 24-bp insertion causing hyperlipidemia. J Hum Genet 46:633-639.
106. Yuge I, Ohtsuka A, Matsunaga T, Usami S. 2002. Identification of 605ins46, a novel GJB2 mutation in a Japanese family. Auris Nasus Larynx 29:379-382.