Molecular Correlates of Chromosome Bands

  • Orlando J. Miller
  • Eeva Therman


Bernardi and his coworkers have demonstrated that the human genome is organized into alternating blocks, each over 300 kb long, of rather homogeneous DNA of quite different GC richness, called isochores (Saccone et al., 1996). These can be separated from one another on the basis of their buoyant density in a cesium chloride ultracentrifugal gradient (Fig. 7.1). This reflects the average nucleotide composition of the isochores, because GC base pairs and GC-rich DNA are denser than AT base pairs and AT-rich DNA. There are five classes of isochores, called Li, L2 (pooled in Fig. 7.1), H1, H2, and H3, in order of increasing buoyant density and thus GC-richness. In situ hybridization shows that the H3 isochores are gene-richest (especially in housekeeping genes) and are present in highest concentration in 28 T-bands and at somewhat lower concentration in 31 additional R-bands (Fig. 7.2; see color insert).


Chromosome Band Molecular Correlate CCGG Site Color Insert Campomelic Dysplasia 
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  1. Antiqua F, Bird A (1995) Number of CpG islands and genes in human and mouse. Proc Natl Acad Sci USA 90:11995–11999Google Scholar
  2. Bickmore WA, Craig J (1997) Chromosome bands: patterns in the genome. Chapman & Hall, New YorkGoogle Scholar
  3. Disney JE, Johnson KR, Magnuson NS, et al. (1989) High-mobility group protein HMG-1 localizes to G/Q-and C-bands of human and murine chromosomes. J Cell Biol 109:1975–1982PubMedCrossRefGoogle Scholar
  4. Dombroski B, Mathias SL, Nanthakumar E, et al. (1991) Isolation of an active human transposable element. Science 254:1805–1808PubMedCrossRefGoogle Scholar
  5. Fukagawa T, Nakamura Y, Okumura K, et al. (1996) Human pseudoautosomal boundary-like sequences: expression and involvement in evolutionary formation of the present-day pseudoautosomal boundary of human sex chromosomes. Hum Mol Genet 5:23–32PubMedCrossRefGoogle Scholar
  6. Furuno N, Nakagawa K, Eguchi U, et al. (1991) Complete nucleotide sequence of the human RCCl gene involved in coupling between DNA replication and mitosis. Genomics 11:459–461PubMedCrossRefGoogle Scholar
  7. Glukhova LA, Zoubak SV, Rynditch AV, et al. (1999) Localization of HTLV-1 and HIV-1 proviral sequences in chromosomes of persistently infected cells. Chrom Res 7:177–183PubMedCrossRefGoogle Scholar
  8. Holmquist GP (1992) Review article: chromosome bands, their chromatin flavors, and their functional features. Am J Hum Genet 51:17–37PubMedGoogle Scholar
  9. Jeppesen P, Turner BM (1993) The inactive X chromosome in female mammals is distinguished by a lack of histone H4 acetylation, a cytogenetic marker for gene expression. Cell 74:281–289PubMedCrossRefGoogle Scholar
  10. Kazazian HH Jr, Moran JV (1998) The impact of retrotransposons on the human genome. Nat Genet 19:19–24PubMedCrossRefGoogle Scholar
  11. Kerem B-S, Goitein R, Diamond G, et al. (1984) Mapping of DNAase I sensitive regions in mitotic chromosomes. Cell 38:493–499PubMedCrossRefGoogle Scholar
  12. Korenberg JR, Rykowski MC (1988) Human genome organization: Alu, Lines, and the molecular structure of metaphase chromosome bands. Cell 53: 391–400PubMedCrossRefGoogle Scholar
  13. Larsen F, Gunderson G, Lopez R, et al. (1992) CpG islands as gene markers in the human genome. Genomics 13:1095–1107PubMedCrossRefGoogle Scholar
  14. Muratani K, Hada T, Yamamoto Y, et al. (1991) Inactivation of the Cholinesterase gene by Alu insertion: Possible mechanism for human gene transposition. Proc Natl Acad Sci USA 88:11315–11319PubMedCrossRefGoogle Scholar
  15. Pfeifer D, Kist R, Dewar K, et al. (1999) Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region. Am J Hum Genet 65:111–124PubMedCrossRefGoogle Scholar
  16. Reiter LT, Liehr T, Rautenstrauss B, et al. (1999) Localization of mariner DNA transposons in the human genome by PRINS. Genome Res 9:839–843PubMedCrossRefGoogle Scholar
  17. Saccone S, Caccio S, Kasuda J, et al. (1996) Identification of the gene-richest bands in human chromosomes. Gene 174:85–94PubMedCrossRefGoogle Scholar
  18. Saitoh Y, Laemmli UK (1994) Metaphase chromosome structure: bands arise from a differential folding path of the highly AT-rich scaffold. Cell 76: 609–622PubMedCrossRefGoogle Scholar
  19. Sassaman DM, Dombroski BA, Moran JV, et al. (1997) Many human Ll elements are capable of retrotransposition. Nat Genet 16:37–43PubMedCrossRefGoogle Scholar
  20. Sumner AT (1996) The distribution of topoisomerase II on mammalian chromosomes. Chrom Res 4:5–14PubMedCrossRefGoogle Scholar
  21. Tazi J, Bird A (1990) Alternative chromatin structure at CpG islands. Cell 60: 909–920PubMedCrossRefGoogle Scholar
  22. Vansant G, Reynolds WF (1995) The consensus sequence of a major Alu subfamily contains a functional retinoic acid response element. Proc Natl Acad Sci USA 92:8229–8233PubMedCrossRefGoogle Scholar
  23. Zoubak S, Clay O, Bernardi G (1996) The gene distribution of the human genome. Gene 174:95–102PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2001

Authors and Affiliations

  • Orlando J. Miller
    • 1
  • Eeva Therman
    • 2
  1. 1.Center for Molecular Medicine and GeneticsWayne State University School of MedicineDetroitUSA
  2. 2.Laboratory of GeneticsUniversity of WisconsinMadisonUSA

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