An interspersed repeated sequence specific for human subtelomeric regions.

Rouyer, François; Chapelle, Albert de la; Andersson, M; Weissenbach, Jean

doi:10.1002/j.1460-2075.1990.tb08137.x

Cited by 86 publications

(38 citation statements)

References 47 publications

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“…It has been demonstrated previously that recombination rates are increased in the telomeric regions of both sexes in human, but dramatically so in males (Donis-Keller et al 1987;Rouyer et al 1990;Blouin et al 1995). Thus, the relationship between genetic distances and physical distances at human telomeres is greatly altered from other chromosomal regions.…”

Section: Discussionmentioning

confidence: 87%

Characterization of Physical Gap Sizes at Human Telomeres

Lese¹,

Fantes²,

Riethman³

et al. 1999

Genome Res.

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Genome-wide physical and genetic mapping efforts have not yet fully addressed the problem of closure at the telomeric ends of human chromosomes. Targeted efforts at cloning human and mouse telomeres have succeeded in identifying unique sequences at most telomeres, but gap sizes between these telomere clones and the distal markers on integrated genetic/physical maps remain largely unknown. As telomeric regions are known to be the most gene-rich regions of the human genome, filling these gaps should have a high priority in completion of the Human Genome Project. We reported previously a first generation set of unique sequence probes for human telomeric regions. Of 41 human telomere regions, 33 were represented by unique clones with a known distance (Յ300 kb) from the end of the chromosome; clones for the remaining eight telomeric regions had not yet been identified and were represented by the most distal markers on the integrated genetic/physical map. We have identified unique telomere clones for four of the remaining telomeres, 9p, 12p, 15q, and 16p. To determine the telomeric gap size for these chromosomes and five other human telomeres, interphase FISH analysis was performed to measure the distance between each telomere clone and the corresponding most distal marker. These studies provide distance estimates ranging from <100 kb to >1 Mb, thus defining the physical mapping task for filling telomeric gaps.

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Section: Discussionmentioning

confidence: 87%

Characterization of Physical Gap Sizes at Human Telomeres

Lese¹,

Fantes²,

Riethman³

et al. 1999

Genome Res.

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“…Assuming that linkage data reported for DXS278 corresponds to the most distal locus (CRI-S232A), the genetic distance of 12.4 centimorgans (cM) to DXYS14 (10), which maps at less than 50 kb from the telomere (36,37), would correspond to a physical distance of 7200 kb-i.e., 580 kb for 1 cM. The increase in recombination frequency observed in the subtelomeric regions of a number of autosomes (18)(19)(20) is thus rather slight in the case of Xp22.3. Knowlton et al (10) observed recombination between the different DNA bands detected by CRI-S232 with a frequency of 1.4% and proposed that locus DXS278 was a recombinational hot spot.…”

Section: Discussionmentioning

confidence: 97%

“…Finally, a genetic map expansion has been observed in telomeric regions of human chromosomes (18)(19)(20). While in male meiosis the genetic map expansion in the pseudoautosomal region is dramatic (21)(22)(23)(24), in female meiosis no such expansion has been observed (21,24).…”

mentioning

confidence: 99%

Long-range restriction map of the terminal part of the short arm of the human X chromosome.

Petit

Levilliers

Weissenbach

1990

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

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The terminal part of the short arm of the human X chromosome has been mapped by pulsed-field gel electrophoresis (PFGE). The map, representing the distal two-thirds of Xp22.3 spans a total of 10,000 kilobases (kb) from Xpter to the DXS143 locus. A comparison with linkage data indicates that 1 centimorgan (cM) in this region corresponds to about 600 kb. CpG islands were essentially concentrated in the 1500 kb immediately proximal to the pseudoautosomal boundary. Several loci, including the gene encoding steroid sulfatase (STS) and the loci for the X-linked recessive form of chondrodysplasia punctata (CDPX) and for Kallmann syndrome (KAL) have been placed relative to the Xp telomere. CDPX is located between 2650 and 5550 kb from Xpter, and STS is located between 7250 and 7830 kb from Xpter. KAL maps to an interval of 350 kb between 8600 and 8950 kb from the telomere. The X-chromosomal breakpoints of a high proportion of XX males resulting from X-Y interchange cluster to a 920-kb region proximal and close to the pseudoautosomal boundary.The existence of the pseudoautosomal region, a region of strictly homologous sequences shared and exchanged between the human X and Y chromosomes, has several consequences that are reflected by the unique properties of the terminal part of the X chromosome short arm.First, genes from the pseudoautosomal region, located at

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“…Just internal to the telomere repeats, eukaryotic chromosomes have more complex sets of repeats (3,4,32) which are called telomere-associated repeats; however, their constant association with chromosome ends raises the possibility that telomere-associated sequences may be responsible for some of the functions that cytologists have suggested for the telomere. These possible functions include mediation of telomere-telomere and telomere-nuclear lamina interactions (14,24). Thus, there is a possibility that telomere-associated sequences play a role in chromosome pairing at meiosis and/or in maintenance of the threedimensional organization of chromosomes within the nucleus.…”

mentioning

confidence: 99%

HeT-A, a transposable element specifically involved in "healing" broken chromosome ends in Drosophila melanogaster.

Biessmann¹,

Valgeirsdottir²,

Lofsky³

et al. 1992

Mol. Cell. Biol.

159

112

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Eight terminally deleted Drosophila melanogaster chromosomes have now been found to be "healed." In each case, the healed chromosome end had acquired sequence from the HeT DNA family, a complex family of repeated sequences found only in telomeric and pericentric heterochromatin. The sequences were apparently added by transposition events involving no sequence homology. We now report that the sequences transposed in healing these chromosomes identify a novel transposable element, HeT-A, which makes up a subset of the HeT DNA family. Addition of HeT-A elements to broken chromosome ends appears to be polar. The proximal junction between each element and the broken chromosome end is an oligo(A) tract beginning 54 nucleotides downstream from a conserved AATAAA sequence on the strand running 5' to 3' from the chromosome end.The distal (telomeric) ends of HeT-A elements are variably truncated; however, we have not yet been able to determine the extreme distal sequence of a complete element. Our analysis covers approximately 2,600 nucleotides of the HeT-A element, beginning with the oligo(A) tract at one end. Sequence homology is strong (>75% between all elements studied). Sequence may be conserved for DNA structure rather than for protein coding; even the most recently transposed HeT-A elements lack significant open reading frames in the region studied. Instead, the elements exhibit conserved short-range sequence repeats and periodic long-range variation in base composition. These conserved features suggest that HeT-A elements, although transposable elements, may have a structural role in telomere organization or maintenance.The ends of eukaryotic chromosomes analyzed to date contain multiple repeats of very short, simple G-rich sequences (e.g., TTAGGG). These repeats are now considered the telomere sequences. There is evidence that the G-rich repeats can be added by telomerase, an enzyme that uses an RNA template to add copies of the telomere repeat to the chromosome end (5). Just internal to the telomere repeats, eukaryotic chromosomes have more complex sets of repeats (3,4,32) which are called telomere-associated repeats; however, their constant association with chromosome ends raises the possibility that telomere-associated sequences may be responsible for some of the functions that cytologists have suggested for the telomere. These possible functions include mediation of telomere-telomere and telomere-nuclear lamina interactions (14, 24). Thus, there is a possibility that telomere-associated sequences play a role in chromosome pairing at meiosis and/or in maintenance of the threedimensional organization of chromosomes within the nucleus.No simple telomerase-generated sequences have been found on Drosophila chromosomes. The failure to find simple repeats is not proof that they do not exist; however, it is possible that Drosophila species have lost this part of the ancestral telomere. On the other hand, Drosophila chromosomes do have larger, more complex telomere-associated sequences which may be evolutionarily rel...

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An interspersed repeated sequence specific for human subtelomeric regions.

Cited by 86 publications

References 47 publications

Characterization of Physical Gap Sizes at Human Telomeres

Characterization of Physical Gap Sizes at Human Telomeres

Long-range restriction map of the terminal part of the short arm of the human X chromosome.

HeT-A, a transposable element specifically involved in "healing" broken chromosome ends in Drosophila melanogaster.

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