Human inherited marker chromosome 22 short-arm enlargement: Investigation of rDNA gene multiplicity, Ag-band size, and acrocentric association

Bernstein, R; Dawson, Bronwen; Griffiths, John R.

doi:10.1007/bf00278697

Cited by 25 publications

(7 citation statements)

References 19 publications

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“…The relationship between Agstaining properties and the amount of rRNA gene copies is not exactly knowh until now. There are few investigations and they dealt with human chromosomes mainly (MILLER et al 1978;W ARBURTON and HENDERSON 1979;BERNSTEIN et al 1981;W ACHTLER et al 1986;DE CAPOA et al 1988;MKHITAROVA et al 1988). In the karyotype of the domestic horse (Equus caballus) NORs have been detected by silver staining (RICHER et al 1991) and FISH (MILLON et al 1993).…”

Section: Introductionmentioning

confidence: 97%

The comparative analysis of NOR polymorphism detected by FISH and Ag-staining on horse chromosomes

et al. 1998

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The nucleolus organizer regions were investigated by FISH with biotinylated rDNA probe and silver staining on chromosomes of the domestic horse (Equus caballus}. Ribosomal RNA loci were mapped at the secondary constrictions of the short arm of chromosome 1 and at the pericentromeric regions of chromosomes 27, 28 and 31. A new nucleolus-organizing chromosome 27 was identified. The interindividual, and interchromosomal polymorphism of NORs was described in 26 horses from 5 breeds. The relative rRNA gene activity was evaluated by the number of silverstained chromosomes, and the size of silver deposits. The relative amount of rDNA in NORs was estimated by intensity of fluorescent hybridization signals. The size of silver deposits and intensity of fluorescence after FISH were determined for each NOR using arbitrary scales of 0-3 and 0-5, respectively. The statistical analysis of these data revealed a tendency for differentiation of NORbearing chromosome pairs by the rRNA gene number of copies, and the activity. A close correlation between activity of the rRNA genes and the relative number of rRNA gene copies was not found for NORs of homologous chromosomes.

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Section: Introductionmentioning

confidence: 97%

The comparative analysis of NOR polymorphism detected by FISH and Ag-staining on horse chromosomes

et al. 1998

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“…Prrez-Castillo et al (1986) detected up to four silver-stainable NORs in the DSR of a 15p+ variant found in four members of a sibship: in cells in which the DSR had only a single silver band, it was usually distal, and when two silver deposits were observed, they were over the distal and the proximal NOR. Finally, in a 22p+ marker chromosome found by Bernstein et al (1981) in four members of a family, three NORs were located in the DSR. Again, the largest silver signal was observed at the distal (near the telomere) NOR, followed by that of the proximal (near the centromere) NOR; the middle NOR showed transcriptional activity in only a few cells.…”

Section: Discussionmentioning

confidence: 98%

Amplification of (GACA)n simple repeats in an exceptional 14p+ marker chromosome

et al. 1994

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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.

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“…1985). Miller et al (1978) and Bernstein et al (1981) used both Ag-AS staining and in situ hybridization with a radioactive probe encoding ribosomal gene sequences to study two families: one with a 14p + and one with a 22p + These authors found that although the entire short arm was enriched in rRNA genes, as indicated by extensive hybridization in situ, the silver-impregnation sites were present only near the centromeric region and the distal end of the short arm in both families. It was concluded that the silver-impreg nation sites may only represent that portion of the genes that is transcriptionally active.…”

Section: Discussionmentioning

confidence: 99%

Visualization of NORs in relation to the precise chromosomal localization of ribosomal RNA genes

Cheung¹,

Sun²,

Featherstone³

1989

Cytogenet Genome Res

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Use of prometaphase chromosome preparations has led to significant improvements in the localization of both NORs and ribosomal gene clusters in the short arms of human acrocentric chromosomes. An improvement of the NOR silver-staining method, followed by trypsin-Giemsa banding, was used to identify the precise location of the NOR on each human acrocentric chromosome. For comparison, the satellite, stalk, and centromeric region were also identified with the aid of both Q- and G-banding techniques. The amount of silver impregnation present in the stalk region of the D- and G-group chromosomes was unique for each of these acrocentric chromosomes and depended on the length of the stalk. In situ hybridization was used to locate the ribosomal gene clusters. A plasmid containing 5.6 kb of the 18S rDNA gene was first oligolabeled with bio-16-dUTP, then hybridized in situ to metaphase chromosomes and visualized by an alkaline phospha-tase color-detection system. Our results indicated that, in most cases, the location of the 18S rDNA gene cluster in the stalk region was indistinguishable from the site of silver impregnation. However, exceptions were noted, suggesting a multiplicity of arrangements of the ribosomal gene clusters. A model is proposed to describe the spatial relationship of NORs (transcriptional activity) and the ribosomal gene clusters.

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Human inherited marker chromosome 22 short-arm enlargement: Investigation of rDNA gene multiplicity, Ag-band size, and acrocentric association

Cited by 25 publications

References 19 publications

The comparative analysis of NOR polymorphism detected by FISH and Ag-staining on horse chromosomes

The comparative analysis of NOR polymorphism detected by FISH and Ag-staining on horse chromosomes

Amplification of (GACA)n simple repeats in an exceptional 14p+ marker chromosome

Visualization of NORs in relation to the precise chromosomal localization of ribosomal RNA genes

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