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Literature DB >> 6945287

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

Abstract

The banding characteristics of an extreme variant familial chromosome 22 short-arm enlargement are described. Ag-AS staining for nucleolar-organizer regions, identified two areas of rDNA actively coding for 18S and 28S rRNA, the one being a broad distal Ag-band and the other a narrower centromeric Ag-band. The DNA in the major portion of the enlarged short arm was highly methylated, as shown by the binding of antibodies to 5-methylcytidine after UV-denaturation of chromosomal DNA. Mean Ag-band size on the aberrant 22p+ correlated with the mean number of 22p+ associations. Association of 22p+ was no greater than that of other acrocentrics, in spite of a presumed excess number of rDNA gene copies. This case represents only the second such normal variant defined by these techniques.

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Year: 1981 PMID： 6945287 DOI： 10.1007/bf00278697

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

20 in total

1. Variation in the number of genes for rRNA among human acrocentric chromosomes: correlation with frequency of satellite association.

Authors: D Warburton; K C Atwood; A S Henderson
Journal: Cytogenet Cell Genet Date: 1976

2. High resolution of human chromosomes.

Authors: J J Yunis
Journal: Science Date: 1976-03-26 Impact factor: 47.728

3. On the relationship between the frequency of association and the nucleolar constriction of individual acrocentric chromosomes.

Authors: M Schmid; W Krone; W Vogel
Journal: Humangenetik Date: 1974

4. Location of ribosomal DNA in the human chromosome complement.

Authors: A S Henderson; D Warburton; K C Atwood
Journal: Proc Natl Acad Sci U S A Date: 1972-11 Impact factor: 11.205

5. An improved technique for selective silver staining of nucleolar organizer regions in human chromosomes.

Authors: S E Bloom; C Goodpasture
Journal: Hum Genet Date: 1976-10-28 Impact factor: 4.132

6. Differential staining of the satellite regions of human acrocentric chromosomes.

Authors: W M Howell; T E Denton; J R Diamond
Journal: Experientia Date: 1975-02-15

7. Regulation of rRNA gene expression in a human familial 14p+ marker chromosome.

Authors: D A Miller; W R Breg; D Warburton; V G Dev; O J Miller
Journal: Hum Genet Date: 1978-09-19 Impact factor: 4.132

8. Marked increase in ribosomal RNA gene multiplicity in a rat hepatoma cell line.

Authors: O J Miller; R Tantravahi; D A Miller; L C Yu; P Szabo; W Prensky
Journal: Chromosoma Date: 1979-02-21 Impact factor: 4.316

9. Visualization of nucleolar organizer regions im mammalian chromosomes using silver staining.

Authors: C Goodpasture; S E Bloom
Journal: Chromosoma Date: 1975-11-20 Impact factor: 4.316

10. Differences in human X isochromosomes.

Authors: J H Priest; R D Blackston; K S Au; S L Ray
Journal: J Med Genet Date: 1975-12 Impact factor: 6.318

9 in total

1. Methylation status of ribosomal RNA gene clusters in the flow-sorted human acrocentric chromosomes.

Authors: K Kawasaki; S Minoshima; J Kudoh; R Fukuyama; N Shimizu
Journal: Mamm Genome Date: 1992 Impact factor: 2.957

2. Inheritance of ribosomal gene activity and level of DNA methylation of individual gene clusters in a three generation family.

Authors: A de Capoa; C Aleixandre; M P Felli; L Ravenna; M A Costantino; P Giancotti; O Vicenti; I Poggesi; C Grappelli; D A Miller
Journal: Hum Genet Date: 1991-12 Impact factor: 4.132

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

1. Variation in the number of genes for rRNA among human acrocentric chromosomes: correlation with frequency of satellite association.

2. High resolution of human chromosomes.

3. On the relationship between the frequency of association and the nucleolar constriction of individual acrocentric chromosomes.

4. Location of ribosomal DNA in the human chromosome complement.

5. An improved technique for selective silver staining of nucleolar organizer regions in human chromosomes.

6. Differential staining of the satellite regions of human acrocentric chromosomes.

7. Regulation of rRNA gene expression in a human familial 14p+ marker chromosome.

8. Marked increase in ribosomal RNA gene multiplicity in a rat hepatoma cell line.

9. Visualization of nucleolar organizer regions im mammalian chromosomes using silver staining.

10. Differences in human X isochromosomes.

1. Methylation status of ribosomal RNA gene clusters in the flow-sorted human acrocentric chromosomes.

2. Inheritance of ribosomal gene activity and level of DNA methylation of individual gene clusters in a three generation family.

3. Relationship between the number and function of human ribosomal genes.

4. Nucleolar organizer region variants as a risk factor for Down syndrome.

5. Analysis of nucleolar organizing regions in parents of trisomic spontaneous abortions.

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

Review 7. De novo formed satellite DNA-based mammalian artificial chromosomes and their possible applications.

8. New insights into the effects of extra nucleolus organizer regions.

Review 9. The role of cytologic NOR variants in the etiology of trisomy 21.