Emergence and scattering of multiple neurofibromatosis (NF1)-related sequences during hominoid evolution suggest a process of pericentromeric interchromosomal transposition

Human Molecular Genetics

Volumn 6, Issue 1, 1997, Pages 9-16

  Régnier, Vinciane ^a   Meddeb, Mounira ^a   Lecointre, Guillaume ^b   Richard, Florence ^c   Duverger, Annette ^a   Nguyen, Van Cong ^a   Dutrillaux, Bernard ^c   Bernheim, Alain ^a   Danglot, Gisèle ^a  

^a INSTITUT GUSTAVE ROUSSY   (France)

^b MUSÉUM NATIONAL D'HISTOIRE NATURELLE   (France)

^c INSTITUT CURIE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GUANOSINE TRIPHOSPHATASE ACTIVATING PROTEIN; SATELLITE DNA;

ARTICLE; CENTROMERE; EVOLUTION; GENE MUTATION; HUMAN; HUMAN CELL; NEUROFIBROMATOSIS; PHYLOGENY; PRIORITY JOURNAL; TUMOR SUPPRESSOR GENE;

ANIMALS; BASE SEQUENCE; BLOTTING, SOUTHERN; CENTROMERE; CHROMOSOME MAPPING; CHROMOSOMES; DNA, COMPLEMENTARY; EVOLUTION, MOLECULAR; HUMANS; HYBRID CELLS; MACACA; MOLECULAR SEQUENCE DATA; NEUROFIBROMIN 1; PROTEINS; SEQUENCE HOMOLOGY, NUCLEIC ACID;

HOMINOIDEA;

EID: 0031022190     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.1.9     Document Type: Article

References (37)

1. Riccardi, V. M. (1992) Neurofibromatosis: phenotype, natural history, and pathogenesis. Johns Hopkins University Press, Baltimore.
2. Li, Y., O'Connell, P., Breidenbach, H. H., Cawthon, R., Stevens, J., Xu, G., Neil, S., Robertson, M., White, R. and Viskochil, D. (1995) Genomic organization of the neurofibromatosis 1 gene (NF1). Genomics, 25, 9-18.
3. DeClue, J. E., Papageorge, A. G., Fletcher, J. A., Diehl, S. R., Ratner, N., Vass, W. C. and Lowy, D. R. (1992) Abnormal regulation of mammalian p21ras contributes to malignant tumor growth in von Recklinghausen (type 1) neurofibromatosis. Cell, 69, 265-273.
4. Basu, T. N., Gutmann, D. H., Fletcher, J. A., Glover, T. W., Collins, F. S. and Downward, J. (1992) Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients. Nature, 356, 713-715.
5. Huson, S. M., Compston, D. A., Clark, P. and Harper, P. S. (1989) A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. J. Med. Genet., 26, 704-711.
6. Marchuk, D. A., Tavakkol, R., Wallace, M. R., Brownstein, B. H., Taillon-Miller, P., Fong, C. T., Legius, E., Andersen, L. B., Glover, T. W. and Collins, F. S. (1992) A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis gene. Genomics, 13, 672-680.
7. Legius, E., Marchuk, D. A., Hall, B. K., Andersen, L. B., Wallace, M. R., Collins, F. S. and Glover, T. W. (1992) NF1-related locus on chromosome 15. Genomics, 13, 1816-1818.
8. Gasparini, P., Grifa, A., Origone, P., Coviello, D., Antonacci, R. and Rocchi, M. (1993) Detection of a neurofibromatosis type I (NF1) homologous sequence by PCR: implication for the diagnosis and screening of genetic diseases. Mol. Cell. Probes, 7, 415-418.
9. Suzuki, S., Ozawa, N., Taga, C., Kano, T., Hattori, M. and Sakaki, Y. (1994) Genomic analysis of a NF1-related pseudogene on human chromosome 21, Gene, 147, 277-280.
10. Purandare, S. M., Breidenbach, H. H., Li, Y., Zhu, X. L., Sawada, S., Neil, S. M., Brothman, A., White, R., Cawthon, R. and 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.
11. Hulsebos, T. J. M., Bijleveld, E. H., Riegman, P. H. J., Smink, L. J. and Dunham, I. (1996) Identification and characterization of NF1-related loci on human chromosomes 22, 14 and 2. Hum. Genet., 98, 7-11.
12. Fitch, D. H., Bailey, W. J., Tagle, D. A., Goodman, M., Sieu, L. and Slightom, J. L. (1991) Duplication of the γ-globin gene mediated by L1 long interspersed repetitive elements in an early ancestor of simian primates. Proc. Natl Acad. Sci. USA, 88, 7396-7400.
13. Miyamoto, M. M., Slightom, J. L. and Goodman, M. (1987) Phylogenetic relations of humans and African apes from DNA sequences in the ψη-globin region. Science, 238, 369-373.
14. Sakoyama, Y., Hong, K. J., Byun, S. M., Hisajima, H., Ueda, S., Yaoita, Y., Hayashida, H., Miyata, T. and Honjo, T. (1987) Nucleotide sequences of immunoglobulin ε genes of chimpanzee and orangutan: DNA molecular clock and hominoid evolution. Proc. Natl Acad. Sci. USA, 84, 1080-1084.
15. Pilbeam, D. (1984) The descent of hominoids and hominids. Sci. Am., 250, 84-96.
16. Conroy, G. C. (1990) Primate evolution. Norton, New York.
17. Dutrillaux, B., Rethore, M. O. and Lejeune, J. (1975) Comparison of the karyotype of the orangutan (Pongo pygmaeus) to those of man, chimpanzee, and gorilla. Ann. Genet., 18, 153-161.
18. Ijdo, J. W., Baldini, A., Ward, D. C., Reeders, S. T. and Wells, R. A. (1991) Origin of human chromosome 2: an ancestral telomere-telomere fusion. Proc. Natl Acad. Sci. USA, 88, 9051-9055.
19. Baldini, A., Ried, T., Shridhar, V., Ogura, K., D'Aiuto, L., Rocchi, M. and Ward, D. C. (1993) An alphoid DNA sequence conserved in all human and great ape chromosomes: evidence for ancient centromeric sequences at human chromosomal regions 2q21 and 9q13. Hum. Genet., 90, 577-583.
20. Felsenstein, J. (1978) Cases in which parsimony or compatibility methods will be positively misleading. Syst. Zool., 27, 401-410.
21. Gibbons, A. (1995) When it comes to evolution, humans are in the slow class. Science, 267, 1907-1908.
22. DeBry, R. W. and Seldin, M. F. (1996) Human/mouse homology relationships. Genomics, 33, 337-351.
23. Eichler, E.E., Lu, F., Antonacci, R., Jurecic, V., Doggett, N. A., Moyzis, R. K., Baldini, A., Gibbs, R. A. and Nelson, D. L. (1996) Duplication of a gene-rich cluster between 16p11.1 and Xq28: a novel pericentromeric-directed mechanism for paralogous genome evolution. Hum. Mol. Genet., 5, 899-912.
24. Wöhr, G., Fink, T. and Assum, G. (1996) A palindromic structure in the pericentromeric region of various human chromosomes. Genome Res., 6, 267-279.
25. Alexandrov, I. A., Mitkevich, S. P. and Yurov, Y. B. (1988) The phylogeny of human chromosome specific alpha satellites. Chromosoma, 96, 443-453.
26. Jorgensen, A. L., Bostock, C. J. and Bak, A. L. (1987) Homologous subfamilies of human alphoid repetitive DNA on different nucleolus organizing chromosomes. Proc. Natl Acad. Sci. USA, 84, 1075-1079.
27. Warburton, P. E. and Willard, H. F. (1990) Genomic analysis of sequence variation in tandemly repeated DNA. Evidence for localized homogeneous sequence domains within arrays of α-satellite DNA. J. Mol. Biol., 216, 3-16.
28. Régnier, V., Danglot, G., Nguyen, V. C. and Bernheim, A. (1995) A Tsp5091 variant in exon 13 of the neurofibromatosis type 1 (NF1) gene allows the identification of both alleles at the mRNA level. Hum. Genet., 96, 131-132.
29. Danglot, G., Régnier, V., Fauvet, D., Vassal, G., Kujas, M. and Bernheim, A. (1995) Neurofibromatosis 1 (NF1) mRNAs expressed in the central nervous system are differentially spliced in the 5′ part of the gene. Hum Mol. Genet., 4, 915-920.
30. Slim, R., Weissenbach, J., Nguyen, V. C., Danglot, G. and Bernheim, A. (1991) Relative order determination of four Yp cosmids on metaphase and interphase chromosomes by two-color competitive in situ hybridization. Hum. Genet., 88, 21-26.
31. Rosier, M. F., Goguel, A. F., Martin, A., Le Paslier, D., Couillin, P., Houlgatte, R., Bernheim, A., Auffray, C. and Devignes, M. D. (1994) A 1.7-Mb YAC contig around the human BDNF gene (11p13): integration of the physical, genetic, and cytogenetic maps in relation to WAGR syndrome. Genomics, 24, 69-77.
32. Diriong, S., Danglot, G., Bernheim, A. and Nguyen, V. C. (1995) A new hybrid cell line containing only human chromosome 15 selected through fluorescence in situ hybridization and characterized by Alu-PCR amplification of the human DNA. Ann. Genet., 38, 27-31.
33. Thompson, J. D., Higgins, D. G. and Gibson, T. J. (1994) CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, positions-specific gap penalties and weight matrix choice. Nucleic Acids Res., 22, 4673-4680.
34. Philippe, H. (1993) MUST: a computer package of Management Utilities for Sequences and Trees. Nucleic Acids Res., 21, 5264-5272.
35. Swofford, D. L. (1993) Phylogenetic Analysis Using Parsimony (PAUP) 3.1.1. Illinois Natural History Survey, Champaign, IL.
36. Barriel, V. (1994) Phylogénies moléculaires et insertions-délétions de nucléotides. C. R. Acad. Sci., Paris, Sc. Vie, 317, 693-701.
37. Felsenstein, J. (1985) Confidence limits on phytogenies: an approach using the bootstrap. Evolution, 39, 783-791.