Interethnic polymorphism of EWS intron 6: Genome plasticity mediated by Alu retroposition and recombination

Human Genetics

Volumn 99, Issue 3, 1997, Pages 357-363

  Zucman Rossi, Jessica ^a   Batzer, Mark A ^b   Stoneking, Mark ^c   Delattre, Olivier ^a   Thomas, Gilles ^a  

^a INSERM   (France)

^b LOUISIANA STATE UNIV MEDICAL CENTER   (United States)

^c PENNSYLVANIA STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ALU SEQUENCE; ARTICLE; CANCER INCIDENCE; CHROMOSOME 22Q; EWING SARCOMA; GENE SEQUENCE; GENE TRANSLOCATION; GENETIC POLYMORPHISM; GENETIC RECOMBINATION; HUMAN; INTRON; MOLECULAR EVOLUTION; PLASTICITY; PRIORITY JOURNAL; RACE DIFFERENCE;

ALLELES; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 22; DNA; EVOLUTION, MOLECULAR; GENE FREQUENCY; GENOME; HUMANS; INCIDENCE; INTRONS; MOLECULAR SEQUENCE DATA; POLYMORPHISM, GENETIC; RECOMBINATION, GENETIC; REPETITIVE SEQUENCES, NUCLEIC ACID; RETROELEMENTS; SARCOMA, EWING'S; TRANSLOCATION, GENETIC;

EID: 0031045193     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050372     Document Type: Article

References (35)

1. Batzer MA, Kilroy GE, Richard PE, Shaikh TH, Desselle TD, Hoppens CL, Deininger PL (1990) Structure and variability of recently inserted Alu family members. Nucleic Acids Res 18:6793-6798
2. Batzer MA, Stoneking M, Alegria-Hartman M, Bazan H, Kass DH, Shaikh TH, Novick GE, Ioannou PA, Scheer WD, Herrera RJ, Deininger PL (1994). African origin of human-specific polymorphic Alu insertions. Proc Natl Acad Sci USA 91:12288-12292
3. Batzer MA, Rubin CM, Hellmann-Blumberg LJ, Alegria-Hartman M, Leeflang EP, Stern JD, Bazan HA, Shaikh TH, Deininger PL, Schmid CW (1995) Dispersion and insertion polymorphism in two small subfamilies of recently amplified human Alu repeats. J Mol Biol 247:418-427
4. Batzer MA, Deininger PL, Hellmann-Blumberg U, Jurka J, Labuda D, Rubin CM, Schmid CW, Zietkiewicz E, Zuckerkandl E (1996) Standardized nomenclature for Alu repeats. J Mol Evol 42:3-6
5. Clark J, Benjamin H, Gill S, Sidhar S, Goodwin G, Crew J, Gusterson BA, Shipley J, Cooper CS (1996) Fusion of the EWS gene to CHN, a member of the steroid/thyroid receptor gene superfamily, in a human myxoid chondrosarcoma. Oncogene 12:229-235
6. Daniels GR, Deninger PL (1985) Integration site preferences of the Alu family and similar repetitive DNA sequences. Nucleic Acids Res 13:8939-8954
7. Delattre O, Zucman J, Plougastel B, Desmaze C, Melot T, Peter M, Kovar H, Joubert I, De Jong P, Rouleau G, Aurias A, Thomas G (1992) Gene fusion with an ETS domain caused by chromosome translocation in human tumors. Nature 359:162-165
8. Glass AG, Fraumeni JF (1970) Epidemiology of bone cancer in children. J Natl Cancer Inst 44:187-199
9. Goad WB, Kanehisa MI (1982) Pattern recognition in nucleic acid sequences. I. A general method for finding local homologies and symmetries. Nucleic Acids Res 10:247-263
10. Jensen RD, Drake RM (1970) Rarity of Ewing's tumour in negroes. Lancet 1, 650:777
11. Jeon I-S, Davis JN, Braun BS, Sublett JE, Roussel MF, Denny CT, Shapiro DN (1995) A variant Ewing's sarcoma translocation (7;22) fuses the EWS gene to the ETS gene ETV1. Oncogene 10:1229-1234
12. Jurka J (1993) A new subfamily of recently retroposed human Alu repeats. Nucleic Acids Res 21. 9:2252
13. Jurka J, Milosavljevic A (1991) Reconstruction and analysis of human Alu genes. J Mol Evol 32:105-121
14. Jurka J, Walichiewicz J, Milosavljevic A (1992) Prototypic sequences for human repetitive DNA. J Mol Evol 35:286-291
15. Kaneko Y, Yoshida K, Handa M, Toyoda Y, Nishihira H, Tanaka Y, Sassaki Y, Ishida S, Higashino F, Fuginaga K (1996) Fusion of the ETS-family gene, EIAF, to EWS by t(17;22)(q12;q12) chromosome translocation in an undifferentiated sarcoma of infancy. Genes Chromosom Cancer 15:115-121
16. Labelle Y, Zucman J, Stenman G, Kinblom L-G, Knight J, Turc-Carel C, Dockhorn-Dworniczak B, Desmaze C, Aurias A, Delattre O, Thomas G (1995) Oncogenic conversion of a novel orphan nuclear receptor by chromosome translocation. Hum Mol Genet 4, 12:2219-2226
17. Ladanyi M, Gerald W (1994) Fusion of the EWS and WT1 genes in the desmoplastic small round cell tumor. Cancer Genet 54: 2837-2840
18. Lehrman MA, Golstein JL, Russell DW, Brown MS (1987) Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia. Cell 48:827-835
19. Li FP, Tu JT, Liu FS, Shiang EL (1980) Rarity of Ewing's sarcoma in China. Lancet. 1, 8180:1255
20. Linden G, Dunn JE (1970) Ewing's sarcoma in negroes. Lancet. 1, 657:1171
21. Lopez R, Larsen F, Prydz H (1994) Evaluation of the exon predictions of the GRAIL software. Genomics 24:133-136
22. Maniatis T, Fritsch EF, Sambrook J (1989) Molecular cloning, a laboratory manual. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY
23. Markert ML, Hutton JJ, Wiginton DA, States JC, Kaufman RE (1988) Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements. J Clin Invest 81: 1323-1327
24. Mural RJ, Einstein R, Guan X, Mann CR, Uberbacher EC (1992) An artificial intelligence approach to DNA sequence feature recognition. Trends Biotechnol 10:66-69
25. Ohno T, Ouchida M, Lee L, Gatalica Z, Rao VN, Reddy ESP (1994) The EWS gene, involved in Ewing family of tumors, malignant melanoma of soft parts and desmoplastic small round cell tumors, codes for an RNA binding protein with novel regulatory domains. Oncogene 9:3087-3097
26. Parkin DM, Stiller CA, Draper GJ, Biebber CA (1988) The international incidence of childhood cancer. Intl J Cancer 42:511-520
27. Plougastel B, Zucman J, Peter M, Thomas G, Delattre O (1993) Structure of the EWS gene and its relationship to EWSR1, a site of tumour associated chromosome translocation. Genomics 18:609-615
28. Polednak AP (1985) Primary bone cancer incidence in black and white residents of New York State. Cancer 55:2883-2888
29. Shen RM, Batzer M, Deninger PL (1991) Evolution of master Alu gene(s) J Mol Evol 33:311-320
30. Shimada F, Taira M, Suzuki Y, Hashimoto N (1990) Insulin-resistant diabetes associated with partial deletion of insulin-receptor gene. Lancet 335:1179-1181
31. Sorensen PHB, Lessnick SL, pez-Terrada D, Liu XF, Triche TJ, Denny CT (1994) A second Ewing's sarcoma translocation, t(21;22) fuses the EWS gene to another ETS-family transcription factor, ERG. Nat Genet 6:146-151
32. Stoppa-Lyonnet D, Carter PE, Meo T, Tosi M (1990) Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements. Proc Natl Acad Sci USA 87: 1551-1555
33. Zucman J, Delattre O, Desmaze C, Plougastel B, Joubert I, Melot T, Peter M, De Jong P, Rouleau G, Aurias A, Thomas G (1992) Cloning and characterisation of the Ewing's sarcoma and peripheral neuroepithelioma t(11;22) translocation breakpoints. Genes Chromosom Cancer 5:271-277
34. Zucman J, Melot T, Desmaze C, Ghysdael J, Plougastel B, Peter M, Zucker J-M, Triche TJ, Sheer D, Turc-Carel C, Ambros P, Combaret V, Lenoir G, Aurias A, Thomas G, Delattre O (1993a) Combinatorial generation of variable fusion proteins in the Ewing family of tumors. EMBO J 12:4481-4487
35. Zucman J, Delattre O, Desmaze C, Epstein AL, Stenman G, Speleman F, Fletcher C, Thomas G (1993b) EWS and ATF-1 gene fusion induced by t(12;22) translocation in malignant melanoma of soft parts. Nat Genet 4:341-345