Human pseudoautosomal boundary-like sequences: Expression and involvement in evolutionary formation of the present-day pseudoautosomal boundary of human sex chromosomes

Human Molecular Genetics

Volumn 5, Issue 1, 1996, Pages 23-32

  Fukagawa, Tatsuo ^a   Nakamura, Yasukazu ^a   Okumura, Katsuzumi ^b   Nogami, Masahiro ^b   Ando, Asako ^c   Inoko, Hidetoshi ^c   Saitou, Naruya ^a   Ikemura, Toshimichi ^a  

^a GRADUATE UNIVERSITY FOR ADVANCED STUDIES   (Japan)

^b MIE UNIVERSITY   (Japan)

^c TOKAI UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOME; CHROMOSOME BAND; CONSENSUS SEQUENCE; HUMAN; HUMAN CELL; MAJOR HISTOCOMPATIBILITY COMPLEX; MOSAICISM; NORTHERN BLOTTING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEX CHROMOSOME;

ANIMALS; BASE COMPOSITION; BASE SEQUENCE; CLONING, MOLECULAR; CONSENSUS SEQUENCE; EVOLUTION, MOLECULAR; GENOME, HUMAN; HOMINIDAE; HUMANS; MAJOR HISTOCOMPATIBILITY COMPLEX; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; PHYLOGENY; PRIMATES; RNA, MESSENGER; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA; SEX CHROMOSOMES;

PRIMATES;

EID: 0030026645     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.1.23     Document Type: Article

References (41)

1. Bernardi, G., Olofsson, B., Filipski, J., Zerial, M., Salinas, J., Cuny, G., Meunier-Rotival, M. and Rodier, F. (1985) The mosaic genome of warm-blooded vertebrates. Science, 228, 953-958.
2. Ikemura, T. (1985) Codon usage and tRNA content in unicellular and multicellular organisms. Mol. Biol. Evol., 2 ,13-34.
3. Aota, S. and Ikemura, T. (1986) Diversity in G+C content at the third position of codons in vertebrate genes and its cause. Nucleic Acids Res., 14, 6345-6355.
4. Bernardi, G. (1989) The isochores organization of the human genome. Annu. Rev. Genet., 23, 637-661.
5. Bernardi, G. (1993) The isochores organization of the human genome and its evolutionary history - A review. Gene, 135, 57-66.
6. Ikemura, T. and Aota, S. (1988) Global variation in G+C content along vertebrate genome DNA: possible correlation with chromosome band structures. J. Mol Biol., 203, 1-13.
7. Korenberg, J. R. and Rykowski, M. C. (1988) Human genome organization: Alu, Lines and the molecular structure of metaphase chromosome bands. Cell, 53, 391-400.
8. Gardiner, K., Aissani, B. and Bernardi, G. (1990) A compositional map of human chromosome 21. EMBO J., 9, 1853-1858
9. Ikemura, T., Wada, K. and Aota, S. (1990) Giant G+C% mosaic structures of the human genome found by arrangement of GenBank human DNA sequences according to genetic positions. Genomics, 8, 207-216.
10. Ikemura, T. and Wada, K. (1991) Evident diversity of codon usage patterns of human genes with respect to chromosome banding patterns and chromosome numbers; relation between nucleotide sequence data and cytogenetic data. Nucleic Acids Res., 19, 4333-4339.
11. Holmquist, G. P. (1992) Chromosome bands, their chromatin flavors, and their functional features. Am. J. Hum. Genet., 51, 17-37.
12. Craig, J. M. and Bickmore, W. A. (1994) The distribution of CpG islands in mammalian chromosomes. Nature Genet., 7, 376-382.
13. Fukagawa, T., Sugaya, K., Matsumoto, K., Okumura, K., Ando, A., Inoko, H. and Ikemura, T. (1995) A boundary of long-range G+C% mosaic domains in the human MHC locus: pseudoautosomal boundary-like sequence exists near the boundary. Genomics, 25, 184-191.
14. Cooke, H. J., Brown, W. R. and Rappold, G. A. (1985) Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal. Nature, 317, 687-692.
15. Simmler, M.- C., Rouyer, F., Vergnaud, G., Nystrom-Lahti, M., Ngo, K. Y., de la Chapelle, A. and Weissenbach, J. (1985) Pseudoautosomal DNA sequences in the pairing region of the human sex chromosomes. Nature, 317, 692-697.
16. Ellis, N. and Goodfellow, P. N. (1989) The mammalian pseudoautosomal region. Trends Genet., 5, 406-410.
17. Rappold, G. A. (1993) The pseudoautosomal regions of the human sex chromosomes. Hum. Genet., 92, 315-324.
18. Kvaloy, K., Galvagni, F. and Brown, W. R. A. (1994) The sequence organization of the long arm pseudoautosomal region of the human sex chromosomes. Hum. Mol. Genet., 3, 771-778.
19. Ellis, N A , Goodfellow, P. J., Pym, B., Smith, M., Palmer, M., Frischauf, A.-M and Goodfellow, P. N. (1989) The pseudoautosomal boundary in man is defined by an Alu repeat sequence inserted on the Y chromosome. Nature, 337, 81-84.
20. Ellis, N , Yen, P., Neiswanger, K., Shapiro, L. J. and Goodfellow, P. N. (1990) Evolution of the pseudoautosomal boundary in Old World monkeys and great apes. Cell, 63, 977-986.
21. Uberbacher, E C. and Mural, R. J. (1991) Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach. Proc. Natl. Acad. Sci. USA, 88, 11262-11265.
22. Li, W.-H., Luo, C.-C. and Wu, C.-I. (1985) In MacIntyre, R. J. (ed.), Molecular Evolutionary Genetics. Plenum Press, New York, pp. 1-94.
23. Senger, G., Ragoussis, J., Trowsdale, J. and Sheer, D. (1993) Fine mapping of the human MHC class II region withm chromosome band 6p21 and evaluation of probe ordering using interphase fluorescence in situ hybridization. Cytogenet. Cell Genet., 64, 49-53.
24. Mandel, J.-L., Monaco, A. P., Nelson, D. L., Schlessinger, D. and Willard, H. (1992) Genome Map III. Science, 258, 87-102.
25. Whitfield, L. S., Hawkins, T. L., Goodfellow, P. N. and Sulston, J. (1995) 41 kilobases of analyzed sequence from the pseudoautosomal and sex-determining region of short arm of human Y chromosome. Genomics, 27, 306-311.
26. Kimura, M. (1983) The Neutral Theory of Molecular Evolution, Cambridge Univ Press, Cambridge, UK.
27. Selig, S., Okumura, K., Ward, D. C. and Cedar, H. (1992) Delineation of DNA replication time zones by fluorescence in situ hybridization. EMBO J., 11, 1217-1225.
28. Sugaya, K., Fukagawa, T., Matsumoto, K., Mita, K., Takahashi, E., Ando, A., Inoko, H. and Ikemura, T. (1994) Three genes in the human MHC class in region near the junction with the class III: gene for receptor of advanced glycosylation end products, PBX2 homeobox gene and a Notch-homolog, human counterpart of mouse mammary tumor gene int-3. Genomics, 23, 408-419.
29. Goodfellow, P., Pym, B., Mohandas, T. and Shapiro, L. J. (1984) The cell surface antigen locus, MIC2X, escapes X-inactivation. Am. J. Hum. Genet., 36, 777-782.
30. Schiebel, K., Weiss, B., Wohrle, D. and Rappold, G. (1993) A human pseudoautosomal gene, ADP/ATP translocase, escapes X-inactivation whereas a homologue on Xq is subject to X inactivation. Nature Genet., 3, 82-87.
31. Ellis, N A., Ye, T.-Z., Patton, S., German, J., Goodfellow, P. N. and Weller, P. (1994) Cloning of PBDX, an MIC2-related gene that spans the pseudoautosomal boundary on chromosome Xp. Nature Genet., 6, 394-400.
32. Ellis, N. A., Tippett, P., Petty, A., Reid, M., Weller, P. A., Ye, T. Z., German, J., Goodfellow, P. N., Thomas, S. and Banting, G. (1994) PBDX is the XG blood group gene. Nature Genet., 8, 285-290.
33. Brown, C. J., Hendrich, B. D., Rupert, J. L., Lafreniere, R. G., Xing, Y., Lawrence, J. and Willard, H. (1992) The human XIST gene: Analysis of 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus. Cell, 71, 527-542.
34. Inoko, H., Ando, A., Kimura, M. and Tsuji, K. (1985) Isolation and characterization of the cDNA clone and genomic clones of a new HLA class II antigen heavy chain, DO alpha. J. Immunol., 135, 2156-2159.
35. Tomatsu, S , Kobayashi, Y., Fukumaki, T., Yubisui, T., Orii, T. and Sakaki, Y (1989) The organization and the complete nucleotide sequence of human NADH-cytochrome b5 reductase gene. Gene, 80, 353-361.
36. Hein, J. (1990) Unified approach to alignment and phylogenies Methods Enzymol., 183, 626-645.
37. Saitou, N. and Nei, M. (1987) The neighbor-joining method: A new method for reconstructing phylogenetic trees. Mol. Biol. Evol., 4, 406-425.
38. Nei, M. (1987) Molecular Evolutionary Genetics, Columbia Univ. Press, New York.
39. Chomczynski, P. and Sacchi, N. (1987) Single-step method of RNA isolation by acid guanidimum thiocyanate-PhOH-chloroform extraction. Anal. Biochem., 162, 156-159.
40. Sneath, P H. A. and Sokal, R. R. (1973) Numerical taxonomy. Freeman, San Francisco.
41. Kimura, M. (1980) A simple method for estimating evolutionary rate of base substitutions through comparative studies of nucleotide sequences. J. Mol. Evol , 16, 111-120.