Abstract
An inherited 14p+ marker chromosome with an unusually large differentially staining region (DSR) on the short arm was examined with a number of banding techniques and by non-radioactive in situ hybridization using various repetitive DNA probes. The increase in the size of this variant chromosome was 40% that of a normal chromosome 14. The extra chromosomal material in the DSR consisted mainly of GC-rich constitutive heterochromatin within which two equally sized clusters of 18S + 28S ribosomal RNA genes were located. In situ hybridization demonstrated that the DNA in the DSR was highly enriched in simple tetrameric (GACA) n sequences, whereas the centromeric alphoid sequences and the (TTAGGG) n telomeric repeats were not amplified. Silver staining of the two nucleolus organizer regions (NORs) within the DSR showed that the telomerically located NOR was always more active than the paracentromerically located NOR. A comparison with other DSRs found in human acrocentric autosomes revealed a gradient of transcriptional activity of adjacent multiple NORs. This gradient decreased in the order of their telomeric-paracentromeric-interstitial position, regardless on which acrocentric chromosome the DSR was located.
Similar content being viewed by others
References
Bernstein R, Dawson B, Griffiths J (1981) Human inherited marker chromosome 22 short-arm enlargement: investigation of rDNA gene multiplicity, Ag-band size, and acrocentric association. Hum Genet 58:135–139
Borgaonkar (1989) Chromosomal variation in man, 5th edn. Alan R Liss, New York
Caspersson T, Zech L, Johannson C, Modest EJ (1970) Identification of human chromosomes by DNA-binding fluorescent agents. Chromosoma 30:215–277
Choo KH, Vissel B, Brown R, Filby RG, Earle E (1988) Homologous alpha satellite sequences on human acrocentric chromosomes with selectivity for chromosomes 13, 14, and 21: implications for recombination between nonhomologues and Robertsonian translocations. Nucleic Acids Res 16:1273–1284
Dale S, Earle E, Voullaire L, Rogers J, Choo KH (1989) Centromeric alpha satellite DNA amplification and translocation in an unusually large chromosome 14p+ variant. Hum Genet 82: 154–158
De Capoa A, Felli MP, Baldini A, Rocchi M, Archidiacono N, Aleixandre C, Miller OJ, Miller DA (1988) Relationship between the number and function of human ribosomal genes. Hum Genet 79:301–304
De Capoa A, Aleixandre C, Felli MP, Ravenna L, Costantino MA, Giancotti P, Vicenti O, Poggesi I, Grappelli C, Miller DA (1991) Inheritance of ribosomal gene activity and level of DNA methylation of individual gene clusters in a three generation family. Hum Genet 88:146–152
Dutrillaux B, Lejeune J (1971) Sur une novelle technique d'analyse du caryotype humain. C R Acad Sci [D] 272:2638–2640
Earle E, Dale S, Choo KH (1989) Amplification of satellite III DNA in an unusually large chromosome 14p+ variant. Hum Genet 82:187–190
Erdtmann B (1982) Aspects of evaluation, significance, and evolution of human C-band heteromorphism. Hum Genet 61:281–294
Haaf T, Willard HF (1992) Organization, polymorphism, and molecular cytogenetics of chromosome-specific α-satellite DNA from the centromere of chromosome 2. Genomics 13:122–128
Howell WM, Black DA (1980) Controlled silver staining of nucleolus organizer regions with a protective colloidal developer: a one-step method. Experientia 36:1014–1016
ISCN (1985) An international system for human cytogenetic nomenclature. Harnden DG, Klinger HP (eds). Karger, Basel
Lau Y-F, Wertelecki W, Pfeiffer RA, Arrighi FE (1979) Cytological analyses of a 14p+ variant by means of N-banding and combinations of silver staining and chromosome bandings. Hum Genet 46:75–82
Meyne J, Ratliff RL, Moyzis RK (1989) Conservation of the human telomere sequence (TTAGGG) n among vertebrates. Proc Natl Acad Sci USA 89:7049–7053
Meyne J, Baker RJ, Hobart HH, Hsu TC, Ryder OA, Ward OG, Wiley JE, Wurster-Hill DH, Yates TL, Moyzis RK (1990) Distribution of non-telomeric sites of the (TTAGGG) n telomeric sequence in the vertebrate chromosomes. Chromosoma 99:3–10
Miller DA, Breg WR, Warburton D, Dev VG, Miller OJ (1978) Regulation of rRNA gene expression in a human familial 14p+ marker chromosome. Hum Genet 43:289–297
Miller OJ, Tantravahi R, Miller DA, Yu L-C, Szabo P, Prensk W (1979) Marked increase in ribosomal RNA gene multiplicity in a rat hepatoma cell line. Chromosoma 71:183–195
Morgan GT, Macgregor HC, Colman A (1980) Multiple ribosomal gene sites revealed by in situ hybridization of Xenopus rDNA to Triturus lampbrush chromosomes. Chromosoma 80:309–330
Moyzis RK, Buckingham JM, Cram LS, Dani M, Deaven LL, Jones MD, Meyne J, Ratliff RL, Wu JR (1988) A highly conserved repetitive DNA sequence, (TTAGGG) n , present at the telomeres of human chromosomes. Proc Natl Acad Sci USA 85:6622–6626
Nanda I, Deubelbeiss C, Guttenbach M, Epplen JT, Schmid M (1990) Heterogeneities in the distribution of (GACA) n simple repeats in the karyotypes of primates and mouse. Hum Genet 85:187–194
Nanda I, Schmid M, Epplen JT (1991) In situ hybridization of nonradioactive oligonucleotide probes to chromosomes. In: Adolph KW (ed) Advanced techniques in chromosome research. Dekker, New York Basel Hongkong, pp 117–134
Pérez-Castillo A, Martín-Lucas MA, Abrisqueta JA (1986) New insights into the effects of extra nucleolus organizer regions. Hum Genet 72:80–82
Seabright M (1971) A rapid banding technique for human chromosomes. Lancet II:971–972
Schmid M (1980) Chromosome banding in Amphibia. IV. Differentiation of GC- and AT-rich chromosome regions in Anura. Chromosoma 77:83–103
Schmid M, Guttenbach M (1988) Evolutionary diversity of reverse (R) fluorescent chromosome bands in vertebrates. Chromosoma 97:101–114
Schmid M, Ohta S, Steinlein C, Guttenbach M (1993) Chromosome banding in Amphibia. XIX. Primitive ZW/ZZ sex chromosomes in Buergeria buergeri (Anura, Rhacophoridae). Cytogenet Cell Genet 62:238–246
Schnedl W, Breitenbach M, Mikelssar A-V, Stranzinger G (1977) Mithramycin and DIPI: a pair of fluorochromes specific for GCand AT-rich DNA respectively. Hum Genet 36:299–305
Schweizer D (1976) Reverse fluorescent chromosome banding with chromomycin and DAPI. Chromosoma 58:307–324
Schweizer D, Ambros P, Andrle M (1978) Modification of DAPI banding on human chromosomes by prestaining with a DNA binding oligopeptide antibiotic, distamycin A. Exp Cell Res 111:327–332
Smith GP (1976) Evolution of repeated DNA sequences by unequal crossover. Science 191:528–535
Sumner AT (1972) A simple technique for demonstrating centromeric heterochromatin. Exp Cell Res 75:304–306
Sumner AT (1990) Chromosome banding. Unwin Hyman, Boston Sydney Wellington
Tantravahi U, Breg WR, Wertelecki V, Erlanger BF, Miller OJ (1981 a) Evidence for methylation of inactive human rRNA genes in amplified regions. Hum Genet 56:315–320
Tantravahi U, Guntaka RV, Erlanger BF, Miller OJ (1981 b) Amplified ribosomal RNA genes in a rat hepatoma cell line are enriched in 5-methylcytosine. Proc Natl Acad Sci USA 78: 489–493
Verma RS, Babu A (1989) Human chromosomes. Pergamon, New York
Weisblum B (1973) Fluorescent probes of chromosomal DNA structure: three classes of acridines. Cold Spring Harb Symp Quant Biol 38:441–449
Weisblum B, Haseth PL de (1972) Quinacrine, a chromosome stain specific for deoxyadenylate-deoxythymidilate-rich regions in DNA. Proc Natl Acad Sci USA 69:629–632
Willard HF, Waye JS (1987) Hierarchical order in chromosome-specific human alpha satellite DNA. Trends Genet 3:192–198
Author information
Authors and Affiliations
Additional information
This paper is dedicated to Dr. D. A. Miller and Dr. O. J. Miller in recognition of their outstanding studies on nucleolus organizer regions
Rights and permissions
About this article
Cite this article
Schmid, M., Nanda, I., Steinlein, C. et al. Amplification of (GACA)n simple repeats in an exceptional 14p+ marker chromosome. Hum Genet 93, 375–382 (1994). https://doi.org/10.1007/BF00201661
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00201661