Summary
Ten unpretreated normal human male fibroblast cells in mitosis were completely reconstructed from micrographs of between 82 and 119 consecutive serial sections. All 46 chromosomes and their centromeres could be reconstructed in every cell. Measurements of chromosome volumes and centromere indices are presented. The data enabled allocation of all chromosomes to their groups (A to G), and chromosomes 1, 2, 3, 6, 9, 16, 17, 18 and Y were individually identified. Comparisons with published karyotypes showed that volume measurements correlated well with measurements of DNA content and chromosome length. Centromere indices also showed good correlation, but the acrocentric chromosomes were more unequally armed than found by length measurement. Secondary constrictions at the nucleolar organising region were visible on about a third of the acrocentric chromosomes. One chromosome of the C group, number 9, had a diffuse subcentromeric region (DSR) on the long arm, at the position of the constitutive heterochromatin and (in meiotic cells) the paramere.
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References
Bajer A (1959) Change of length and volume of mitotic chromosomes in living cells. Hereditas 45:579–596
Bartholdi MF (1985) DNA content and base composition of human chromosomes. J Colloid Interface Sci 105:426–434
Bennett MD (1984) Towards a general model for spatial law and order in nuclear and karyotypic architecture. Chromosomes Today 8:190–202
Bennett MD, Smith JB, Simpson S, Wells B (1979) Intranuclear fibrillar material in cereal pollen mother cells. Chromosoma 71:289–332
Bennett MD, Smith JB, Ward J, Jenkins G (1981) The relationship between nuclear DNA content and centromere volume in higher plants. J Cell Sci 47:91–115
Bennett MD, Heslop-Harrison JS, Smith JB, Ward JP (1983) DNA density in mitotic and meiotic metaphase chromosomes of plants and animals. J Cell Sci 63:173–179
Bobrow M, Madan K, Pearson PL (1972) Staining of some specific regions of human chromosomes, particularly the secondary constriction of no. 9. Nature [New Biol] 238:122–124
Bosman FT, Ploeg M van der, Duijn P van, Schaburg A (1977) Photometric determination of the DNA distribution in the 24 human chromosomes. Exp Cell Res 31:589–594
Boy de la Tour E, Laemmli UK (1988) The metaphase scaffold is helically folded: sister chromatids have predominantly opposite helical handedness. Cell 55:937–944
Carrano AV, Gray JW, Langlois RG, Burkhart-Schultz KJ, Van Dilla MA (1979) Measurement and purification of human chromosomes by flow cytometry and sorting. Proc Natl Acad Sci USA 76:1382–1384
Cherry LM, Johnston DA (1987) Size variation in kinetochores of human chromosomes. Hum Genet 75:155–158
Ferguson-Smith MA, Ferguson-Smith ME, Ellis PM, Dickson M (1962) The sites and relative frequencies of secondary constrictions in human somatic chromosomes. Cytogenetics 1:325–343
Harris P, Boyd E, Young BD, Ferguson-Smith MA (1986) Determination of the DNA content of human chromosomes by flow cytometry. Cytogenet Cell Genet 41:14–21
Heslop-Harrison JS, Bennett MD (1983) The spatial order of chromosomes in root-tip metaphase of Aegilops umbellulata. Proc R Soc Lond B 218:225–239
Heslop-Harrison JS, Bennett MD (1984) Chromosome order ⇆ossible implications for development. J Embryol Exp Morphol 83:[Suppl] 51–73
Heslop-Harrison JS, Huelskamp M, Wendroth S, Atkinson MD, Leitch AR, Bennett MD (1988) Chromatin and centromeric structures in interphase nuclei. In: Brandham PE (ed) Kew Chromosome Conference III. HMSO, London, pp 209–217
Holm PB, Rasmussen SW (1977) Human meiosis. 1. The human pachytene karyotype analysed by three dimensional reconstruction of the synaptonemal complex. Carlsberg Res Commun 42:283–323
Hungerford DA, Ashton FT, Balaban GB, LaBadie GU, Messatzzia LR, Haller G, Miller AE (1972) The C-group pachytene bivalent with a locus characteristic for parachromosomally situated particulate bodies (parameres): a provisional map in human males. Proc Natl Acad Sci USA 69:2165–2168
ISCN (1985) An international system for human cytogenetic nomenclature: report of the standing committee on human cytogenetic nomenclature. Harnden DG, Klinger HP (eds) Published in collaboration with Cytogenet Cell Genet. Karger, Basel
Laird C, Jaffe E, Karpen G, Lamb M, Nelson R (1987) Fragile sites in human chromosomes as regions of late-replicating DNA. Trends Genet 3:274–281
Laurie DA, Hultén MA (1985) Further studies on chiasma distribution and interference in the human male. Ann Hum Genet 49:203–214
Mayall BH, Carrano AV, Moore DH, Ashworth LK, Bennett DE, Mendelsohn ML (1984) The DNA-based human karyotype. Cytometry 5:376–385
McGill M, Brinkley BR (1975) Human chromosomes and centrioles as nucleating sites for the in vitro assembly of microtubules from bovine brain tubulin. J Cell Biol 67:189–199
Mendelsohn ML, Mayall BH, Bogart E, Moore II DH, Perry BH (1973) DNA content and DNA-based centromere index of the 24 human chromosomes. Science 179:1126–1129
Mitchell AR, Ambros P, McBeath S, Chandley AC (1986) Molecular hybridization to meiotic chromosomes in man reveals sequence arrangement on the no. 9 chromosome and provides clues to the nature of the ‘parameres’. Cytogenet Cell Genet 41:89–95
Moyzis RK, Albright KL, Bartholdi MF, Cram LS, Deaven LL, Hildebrand CE, Joste NF, Longmire JL, Meyne J, Schwarzacher-Robinson T (1987) Human chromosome-specific repetitive DNA sequences: novel markers for genetic analysis. Chromosoma 95:375–386
Page BM (1973) Identification of chromosome 9 in human male meiosis. Cytogenet Cell Genet 12:254–263
Painter T (1923) Studies in mammalian spermatogenesis. J Exp Zool 37:291–336
Patau K (1960) The identification of individual chromosomes, especially in man. Am J Hum Genet 12:250–276
Roos UR (1973) Light and electron microscopy of rat kangaroo cells in mitosis. II. Kinetochore structure and function. Chromosoma 41:195–220
Schwarzacher HG (1976) Chromosomes in mitosis and interphase. Springer, Berlin Heidelberg New York
Schwarzacher HG, Wachtler F (1983) Nucleolus organiser regions and nucleoli. Hum Genet 63:89–99
Schwarzacher-Robinson T, Finch RA, Smith JB, Bennett MD (1987) Genotypic control of centromere positions of parental genomes in Hordeum × Secale hybrid metaphases. J Cell Sci 87:291–304
Schwarzacher-Robinson T, Cram LS, Meyne J, Moyzis RK (1988) haracterization of human heterochromatin by in situ hybridization with satellite DNA clones. Cytogenet Cell Genet 47:192–196
Schweizer D (1983) Distamycin-DAPI bands: properties and occurrence in species. In: Brandham PE, Bennett MD (eds) Kew Chromosome Conference II. Allen & Unwin+, London, pp 43–51
Skaer RJ, Whytock S (1976) The fixation of nuclei and chromosomes. J Cell Sci 20:221–231
Sutherland GR (1985) The enigma of the fragile X chromosome. Trends Genet 1:108–111
Vig BK (1981) Sequence of centromere separation: analysis of mitotic chromosomes in man. Hum Genet 57:247–252
Wells B (1974) A convenient technique for the collection of ultrathin sections. Micron 5:79–81
Winiwater H von (1912) Etudes sur la spermatogenèse humaine. I. Cellule de Sertoli. II. Hétérochromosomes et mitoses de l'épithélium séminal. Arch Biologie 27:147–189
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Heslop-Harrison, J.S., Leitch, A.R., Schwarzacher, T. et al. The volumes and morphology of human chromosomes in mitotic reconstructions. Hum Genet 84, 27–34 (1989). https://doi.org/10.1007/BF00210666
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DOI: https://doi.org/10.1007/BF00210666