Observations on the Satellited Human Chromosomes

Ferguson-Smith, Malcolm A.; Handmaker, StanleyD.

doi:10.1016/s0140-6736(61)91655-5

Cited by 256 publications

(33 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This hypothesis is supported by the observation that most human Robertsonian translocations are dicentric (24,25). It has also been suggested that acrocentric chromosomes are more prone to nondisjunction because they are often associated with a common nucleolus (26)(27)(28). This view is supported by the observation of association at pachytene in the human spermatocyte (29) and oocyte (11).…”

Section: Resultsmentioning

confidence: 82%

Association of ribosomal genes in the fibrillar center of the nucleolus: a factor influencing translocation and nondisjunction in the human meiotic oocyte.

Mirre¹,

Hartung²,

Stahl³

1980

Proc. Natl. Acad. Sci. U.S.A.

View full text Add to dashboard Cite

Prophase I of meiosis was studied in the human oocyte obtained from 16-to 24-week-old fetuses. Electron microscopy and silver staining showed that, at pachytene, the ribosomal genes belonging to several chromosomes are gathered in the same nucleolar fibrillar center, where they are embedded in an argyrophilic protein. The nucleolus showed spontaneous segregation of its components due to temporary inactivation of the ribosomal genes. The fibrillar center, separated from the other nucleolar components, was penetrated at midpachytene by chromatin fibers containing rDNA emanating from one to three nucleolar bivalents. Thus, the ribosomal genes from 4-12 chromatids are temporarily juxtaposed inside the same structure. Such a structural arrangement is completely different from that observed in the pachytene-stage mouse oocyte, where two independent and active nucleoli, each displaying its own fibrillar center, were formed on the bivalents containing paired ribosomal genes. These different structural patterns' are correlated with the high frequency of nondisjunction in the human oocyte and the relative infrequency of such in the mouse oocyte. The pattern observed in the human oocyte may be a cause of translocations.Chromosomal anomalies due to meiotic nondisjunction are the most frequent cause of human spontaneous abortions (1-4). In contrast, aneuploidy is seldom observed in mouse embryos (5). This difference is explained by the very low incidence (<1.0%) of nondisjunction during the first meiotic division of mouse oocytes (6). Chromosomes containing a nucleolus organizer are involved in about 40% of human lethal trisomies (7). In Down syndrome, the extra chromosome 21 originates, in most cases, as a result of nondisjunction during the first meiotic division of the oocyte (8-10). These data suggest that, at prophase I of human meiosis, a structural arrangement may exist favoring the failure of disjunction of chromosome 21 and other nucleolus-organizer-containing chromosomes. The nucleolar association of several bivalents at pachytene has been described previously (11), but the techniques used gave no information about the part of the nucleolus involved in the association and the possible entanglement of the chromosomal and nucleolar structures. This paper describes a comparative study of the behavior of nucleolus-organizer-containing chromosomes at prophase I of meiosis in the human and the mouse oocyte that was made in an attempt to elucidate the nature of these structural arrangements.MATERIALS AND METHODS Materials. Eight human fetal ovaries taken at 16-24 weeks of pregnancy and eight ovaries from Swiss OF1 mouse embryos taken at the 18th day of pregnancy were used.Silver Staining of the Nucleolar Organizer Region. After isolation and spreading (12), the human germ cells were stained (13) by treatment with 50% silver nitrate solution at 60-700C for 6 min followed by treatment with ammoniacal silver/3% neutralized formalin, pH 5-6. Electron Microscopy. The ovaries were cut into 1-mm3 pieces and fixed by ...

show abstract

Section: Resultsmentioning

confidence: 82%

Association of ribosomal genes in the fibrillar center of the nucleolus: a factor influencing translocation and nondisjunction in the human meiotic oocyte.

Mirre¹,

Hartung²,

Stahl³

1980

Proc. Natl. Acad. Sci. U.S.A.

View full text Add to dashboard Cite

show abstract

“…The presence of a chromatid exchange in the 'pulverized chromosome' has to be considered as an independent phenomenon (Piccotti and Chiarelli, unpublished). 800 x Associations between D and G chromosomes in man and chimpanzee A close association among the satellite bearing chromosomes of the D and G groups and the other ones carrying secondary constrictions in Man, Apes and Monkeys, has been shown by several authors (Edwards 1961; Ferguson- Smith & Handmaker 1961;Shaw 1961;Schneiderman & Smith 1962;Barton et al 1965;Zang & Back 1968;Cooke 1971;Patil and Lubs 1971;de Boer 1972;Ardito et al 1973;Nakagome 1973;Ardito & Mortelmans 1975). This preferential association has been assumed to be due to the accumulation of RNA produced by the nucleolar organizer regions, characteristic of these chromosomes.…”

Section: Evidence For the Non-random Distribution Of Chromosomes Durimentioning

confidence: 89%

Superchromosomal organization and its cytogenetic consequences in the Eukaryota

Chiarelli

Brøgger²

1978

Genetica

View full text Add to dashboard Cite

“…A variety of observations in many different organisms indicates that the position of chromosomes is usually unvarying throughout interphase (BARR 1959;EvANS 1961;GRUMBACH.et al1963;MuLDAL et al 1963), as well as at mitosis (LUTZ 1916;WILSON 1928 and1932;EDWARDS 1961;FERGUSON-SMITH and HANDMAKER 1961;BARTON and DAVID 1962;MILLER et al1963a and b;MILLER 1964). These fixed positions of the chromosomes on the spindle, and their final positions in the daughter nuclei appear to be maintained from one mitosis to the next in plants and animals alike (AGAR 1920;KAGAWA 1926;WILSON 1928;LOVELESS and REVELL 1949).…”

Section: Discussionmentioning

confidence: 99%

“…These include: pairing of homologous or nonhomologous chromosome segments, and fusion of chromosome segments into chromocenters (SwANSON 1957;SLIZYNSKI 1945;McCLINTOCK 1933 ); nuclear furrowing and nuclear budding (CROSBY LONGWELL and YERGANIAN 1965); delayed chromatid separation at anaphase (MELANDER 1962); aneuploidy and structural chromosome rearrangements (MILLER et al 1963a;MILLER 1964 ); fusion of nucleoli moving their respective organizer chromosomes together (McCLINTOCK 1934;GATES 1942;PENROSE and HARNDEN 1961;HANDMAKER 1961 andHAMERTON 1961;0HNO et al1961;SHAW 1961;LEHMANN and FORSSMAN 1962;MERRINGTON and PENROSE 1964 ). The displacement of chromosomes on the mitotic spindle, chromosome stickiness, laggard chromosomes, bridges, and generally prolonged time of metaphase that characterize many tumor cells (KOLLER 194 7;0BERLING and BERNHARD 1961) afford ample opportunity for a reorganization of the spatial relationships of the intranuclear chromosomes.…”

Section: Discussionmentioning

confidence: 99%

Number and Arrangement of Nucleoli and Nucleolar Chromosomes in some Hamster Cell Cultures

Longwell

1968

Caryologia

View full text Add to dashboard Cite

Observations on the Satellited Human Chromosomes

Cited by 256 publications

References 10 publications

Association of ribosomal genes in the fibrillar center of the nucleolus: a factor influencing translocation and nondisjunction in the human meiotic oocyte.

Association of ribosomal genes in the fibrillar center of the nucleolus: a factor influencing translocation and nondisjunction in the human meiotic oocyte.

Superchromosomal organization and its cytogenetic consequences in the Eukaryota

Number and Arrangement of Nucleoli and Nucleolar Chromosomes in some Hamster Cell Cultures

Contact Info

Product

Resources

About