Relationship between the number and function of human ribosomal genes

• Published in: Human genetics Vol. 79; no. 4; pp. 301 - 304
• Main Authors: DE CAPOA, A, FELLI, M. P, BALDINI, A, ROCCHI, M, ARCHIDIACONO, N, ALEIXANDRE, C, MILLER, O. J, MILLER, D. A
• Format: Journal Article
• Language: English
• Published: Heidelberg Springer 01-08-1988; Berlin; New York, NY
• Subjects: B-Lymphocytes - physiology; Biological and medical sciences; Chromosome Banding; Chromosomes, Human, 13-15; Chromosomes, Human, 16-18; Chromosomes, Human, 21-22 and Y; Classical genetics, quantitative genetics, hybrids; DNA, Ribosomal; DNA, Satellite; Fibroblasts - physiology; Fundamental and applied biological sciences. Psychology; Genes; Genetics of eukaryotes. Biological and molecular evolution; Human; Humans; Nucleic Acid Hybridization; RNA, Ribosomal - genetics; T-Lymphocytes - physiology; Human; Gene; Ribosome
• ISSN: 0340-6717; 1432-1203
• DOI: 10.1007/bf00282165

The relative number of ribosomal RNA genes of the acrocentric chromosomes in one individual was measured by counting grains after in situ hybridization of 3H-labeled human 18S rDNA to fixed metaphase chromosomes. The relative amount of ribosomal RNA gene activity of each of the same chromosomes was estimated by determining the frequency with which the chromosome's nucleolus organizer region (NOR) was silver stained, the size of the silver-stained region, and how often the chromosome was found in satellite association. Results were similar in phytohemagglutinin-stimulated T-lymphocytes, Epstein-Barr virus transformed lymphoblasts, and fibroblasts. One chromosome 21 had few gene copies and low activity. One chromosome 22 had many gene copies but low activity. Both chromosomes 14 had few gene copies but high activity. The level of expression that can be achieved by rRNA gene clusters can, therefore, be determined by factors other than the number of gene copies.