A familial insertion involving an active nucleolar organiser within chromosome 12.

Watt, Jessie L.; Couzin, D A; Lloyd, DavidJ.; Stephen, G S; McKay, E.L.

doi:10.1136/jmg.21.5.379

Cited by 20 publications

(15 citation statements)

References 19 publications

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“…The transfer in tumor cells of rDNA to deleted chromosomes (Zankl and Huwer, 1978) and to terminal positions on the long arms of acrocentric chromosomes (Henderson and Megraw-Ripley, 1982) might involve similar mecha nisms, and insertion of an active NOR into a chro mosome 12 has been reported in three generations of a cancer-free family (Watt et al, 1984).…”

Section: Discussionmentioning

confidence: 99%

Ectopic nucleolus organizer regions (NORs) in human testicular tumors

DeLozier-Blanchet¹,

Walt

Engel³

1986

Cytogenet Genome Res

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Investigation of nucleolus organizer regions (NORs) in hematopoietic malignancies has indicated that the distribution and rearrangement of these regions may be more important in malignant tissues than is their number. In one of the few studies thus far reported on NORs in human solid tumors, we describe here Ag-NORs in a group of human testicular germ-cell tumors and the corresponding patients. Four of seven malignancies demonstrated consistent ectopic NORs; explanations could include chromosomal rearrangement (insertion?) or derepression of preexisting inactive NORs.

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Section: Discussionmentioning

confidence: 99%

Ectopic nucleolus organizer regions (NORs) in human testicular tumors

DeLozier-Blanchet¹,

Walt

Engel³

1986

Cytogenet Genome Res

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“…HCM-FISH showed in one step that this material was derived from an acrocentric short arm, once with and once without the NOR region. Similar reports are scarcely available in the literature (Watt et al 1984;Reddy and Sulcova 1998;Guttenbach et al 1998;Chen et al 2004). However, even such an insertion in an X chromosome was seen once (Tamagaki et al 2000).…”

Section: Discussionmentioning

confidence: 63%

A New Multicolor Fluorescence In Situ Hybridization Probe Set Directed Against Human Heterochromatin

Bucksch

Ziegler

Kosayakova

et al. 2012

J Histochem Cytochem.

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SummaryA new multicolor fluorescence in situ hybridization (mFISH) probe set is presented, and its possible applications are highlighted in 25 clinical cases. The so-called heterochromatin-M-FISH (HCM-FISH) probe set enables a one-step characterization of the large heterochromatic regions within the human genome. HCM-FISH closes a gap in the now available mFISH probe sets, as those do not normally cover the acrocentric short arms; the large pericentric regions of chromosomes 1, 9, and 16; as well as the band Yq12. Still, these regions can be involved in different kinds of chromosomal rearrangements such as translocations, insertions, inversions, amplifications, and marker chromosome formations. Here, examples are given for all these kinds of chromosomal aberrations, detected as constitutional rearrangements in clinical cases. Application perspectives of the probe set in tumors as well as in evolutionary cytogenetic studies are given. (J Histochem Cytochem 60:530-536, 2012) Keywords multicolor fluorescence in situ hybridization (mFISH), heterochromatin-M-FISH (HCM-FISH) probe set, heteromorphism, small supernumerary marker chromosome (sSMC), insertion, translocation Article

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“…The third variety, interstitial insertion of satellite stalks (NOR) into nonacrocentric chromosomes, as observed in the 4 relatives we described, is the least frequent. We are aware of only 6 such familial cases [Watt et al, 1984;Cosper et al, 1985;Prieto et al, 1989;Reddy and Sulcova, 1998;Guttenbach et al, 1998Guttenbach et al, , 1999. They involved chromosomes 6, 7, 8, 11, and 12, were transmitted in a dominant fashion, and had no phenotypic effect.…”

Section: Discussionmentioning

confidence: 95%

Segregation of a pure form of spastic paraplegia and NOR insertion into Xq11.2

Tamagaki¹,

Shima

Tomita³

et al. 2000

Am. J. Med. Genet.

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A 3-year-old boy, his 7-year-old brother, and a maternal uncle had a pure form of spastic paraplegia and a variant X chromosome with a faintly stained gap at Xq11.2. The mother of the propositus also had the variant X chromosome but was clinically unaffected. Three other unaffected females in the family did not have the variant X chromosome. The gaps in the variant X chromosome from the affected members and the mother were Ag-NOR staining positive, C-banding negative, rDNA FISH analysis positive, and alpha-satellite FISH analysis negative. The gap, therefore, represented an insertion of the nucleolus organizer region (NOR) derived from the short arm of an acrocentric chromosome. The variant X chromosome of the mother was randomly inactivated, as evidenced by BrdU replication analysis of her Epstein-Barr virus-transformed lymphoblastoid cells. Because mutations of the proteolipid protein gene at Xq21 have been responsible for a pure form of spastic paraplegia, this was also investigated but found to be negative in all affected relatives. Summing up these findings, it is proposed that the NOR insertion in the affected members of the family disrupted a hitherto unknown gene for a pure form of spastic paraplegia, situated at Xq11.2, and caused the disorder.

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A familial insertion involving an active nucleolar organiser within chromosome 12.

Cited by 20 publications

References 19 publications

Ectopic nucleolus organizer regions (NORs) in human testicular tumors

Ectopic nucleolus organizer regions (NORs) in human testicular tumors

A New Multicolor Fluorescence In Situ Hybridization Probe Set Directed Against Human Heterochromatin

Segregation of a pure form of spastic paraplegia and NOR insertion into Xq11.2

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