Abstract
A decisive step forward in human cytogenetics was the discovery of banding techniques that reveal distinctive and reproducible patterns of transverse bands along the chromosomes. These permit accurate identification of all the chromosomes, recognition of a host of structural rearrangements, and identification of the breakpoints in most of these. Chromosome bands have great theoretical and practical significance. They are fundamental units of chromosome organization and play a key role in gene regulation, as described in Chapter 7. They have made possible the rapid identification of an enormous range of karyotype abnormalities and the construction of increasingly comprehensive physical and genetic linkage maps of the chromosomes. New banding techniques continue to enrich our understanding of the complex human genome. Banding techniques and their applications have been reviewed extensively (for example, Verma and Babu, 1995; Bickmore and Craig, 1997).
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Babu A (1988) Heterogeneity of heterochromatin of human chromosomes as demonstrated by restriction endonuclease treatment. In: Verma RS (ed) Heterochromatin: molecular and structural aspects. Cambridge University Press, Cambridge, pp 250–275
Bailey SM, Meyne J, Cornforth MN, et al. (1996) A new method for detecting pericentric inversions using COD-FISH. Cytogenet Cell Genet 75: 248–253
Bickmore WA, Craig J (1997) Chromosome bands: patterns in the genome. Chapman & Hall, New York
Caspersson T, Zech L, Johansson C (1970) Differential binding of alkylating fluorochromes in human chromosomes. Exp Cell Res 60:315–319
Craig JM, Bickmore WA (1994) The distribution of CpG islands in mammalian chromosomes. Nat Genet 7:376–382
Drouin R, Holmquist GP, Richer C-L (1994) High-resolution replication bands compared with morphologic G-and R-bands. In: Harris H, Hirschhorn K (eds) Advances in Human Genetics 22. Plenum Press, New York, pp 47–115
Dutrillaux B (1973) Nouveau système de marquage chromosomique les bandes T. Chromosoma 41:395–402
Dutrillaux B, Lejeune J (1971) Sur une nouvelle technique d’analyse du caryotype humaine. CR Acad Sci Paris D 272:2638–2640
Fetni R, Drouin R, Richer C-L, et al. (1996) Complementary replication R-and G-band patterns induced by cell blocking at the R-band/G-band transition, a possible regulatory checkpoint within the S phase of the cell cycle. Cytogenet Cell Genet 75:172–179
Francke U (1994) Digitized and differentially shaded human chromosome ideograms for genomic applications. Cytogenet Cell Genet 57:91–99
Galloway SM, Evans HJ (1975) Asymmetrical C-bands and satellite DNA in man. Exp Cell Res 94:454–459
Herbert A, Rich A (1996) The biology of left-handed Z-DNA. J Biol Chem 271:11595–11598
ISCN (1995) An international system for human cytogenetic nomenclature. Mitelman F (ed); S Karger, Basel
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 74:281–289
Kerem B-S, Goitein R, Diamond G, et al. (1984) Mapping of DNAase I sensitive regions on mitotic chromosomes. Cell 38:493–499
Korenberg JR, Rykowski MC (1988) Human genome organization. Alu, Lines, and the molecular structure of metaphase chromosome bands. Cell 53: 391–400
Latt SA (1973) Microfluorometric detection of deoxyribonucleic acid replication in human metaphase chromosomes. Proc Natl Acad Sci USA 70: 3395–3399
Lewis JD, Meehan RR, Henzel WJ, et al. (1992) Purification, sequence, and cellular localization of a novel chromosome protein that binds to methylated DNA. Cell 69:905–914
Lichter P, Ledbetter SA, Ledbetter DH, et al. (1990) Fluorescence in situ hybridization with Alu and L1 polymerase chain reaction probes for rapid characterization of human chromosomes in hybrid cell lines. Proc Natl Acad Sci USA 87:6634–6638
Ludeña P, Sentis C, De Cabo SF, et al. (1991) Visualization of R-bands in human metaphase chromosomes by the restriction endonuclease Msel. Cytogenet Cell Genet 57:82–86
Magaud J-P, Rimokh R, Brochier J, et al. (1985) Chromosomal R-banding with a monoclonal antidouble-stranded DNA antibody. Hum Genet 69: 238–242
Miller DA, Choi Y-C, Miller OJ (1983) Chromosome localization of highly repetitive human DNAs and amplified rDNA by use of restriction enzymes. Science 219:395–397
Miller OJ, Schreck RR, Beiser SM, et al. (1973) Immunofluorescent studies of chromosome banding with anti-nucleoside antibodies. In: Caspersson T, Zech L (eds) Nobel Symposium XXIII. Chromosome identification—technique and applications in biology and medicine. Academic, New York, pp 43–48
Miller OJ, Schnedl W, Allen J, et al. (1974) 5-Methylcytosine localized in mammalian constitutive heterochromatin. Nature 251:636–637
Paris Conference: 1971 (1972) Standardization in human cytogenetics. Birth defects: original article series, VIII: 7. The National Foundation, New York
Schreck RR, Warburton D, Miller OJ, et al. (1973) Chromosome structure as revealed by a combined chemical and immunochemical procedure. Proc Natl Acad Sci USA 70:804–807
Schweizer D (1981) Counterstain-enhanced chromosome banding. Hum Genet 57:1–14
Verma RS, Babu A (1995) Human chromosomes: principles and techniques. McGraw-Hill, New York
Viegas-Pequignot E, Derbin C, Malfoy B, et al. (1983) Z-DNA immunoreactivity in fixed metaphase chromosomes of primates. Proc Natl Acad Sci USA 80:5890–5894
Wraggett KA, Hill F, James PS, et al. (1994) A mammalian homologue of Drosophila heterochromatin protein 1 (HPl) is a component of constitutive heterochromatin. Cytogenet Cell Genet 66:99–103
Yunis JJ (1980) Nomenclature for high resolution human chromosomes. Cancer Genet Cytogenet 2:221–229
Author information
Authors and Affiliations
Rights and permissions
Copyright information
© 2001 Springer Science+Business Media New York
About this chapter
Cite this chapter
Miller, O.J., Therman, E. (2001). Chromosome Bands. In: Human Chromosomes. Springer, New York, NY. https://doi.org/10.1007/978-1-4613-0139-4_6
Download citation
DOI: https://doi.org/10.1007/978-1-4613-0139-4_6
Publisher Name: Springer, New York, NY
Print ISBN: 978-0-387-95046-4
Online ISBN: 978-1-4613-0139-4
eBook Packages: Springer Book Archive