Spontaneous cytogenetic abnormalities in lymphocytes from thirteen patients with ataxia telangiectasia

Taylor, Alexander M.; Oxford, J. M.; Metcalfe, Judith A.

doi:10.1002/ijc.2910270309

Cited by 104 publications

(39 citation statements)

References 15 publications

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“…Inversions of translocations involving one or both chromosomes 14 were found in approximately 70% of T-PLLs (Matutes et al, 1991). In addition, t(X;14) translocations were found occasionally in TPLLs or related disorders (Taylor et al, 1981;Canki et al, 1983;Dallapiccola et al, 1984;Beatty et al, 1986;Witzig et al, 1986;Goyns et al, 1993). In this paper, we describe two additional t(X;14) translocations in TPLLs.…”

Section: Discussionmentioning

confidence: 99%

Alternative origin of p13MTCP1-encoding transcripts in mature T-cell proliferations with t(X;14) translocations

et al. 1997

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The MTCP1 gene is involved in the t(X;14)(q28;q11) translocation associated with T-cell prolymphocytic leukemia and related conditions. This gene is unusual in that it codes for two distinct proteins: a small mitochondrial protein, p8 MTCP1 , and a putative oncogenic protein, p13 MTCP1 . Scarcity of material from t(X;14)-associated proliferations and very low levels of mRNA expression have so far prevented a thorough description of p13 MTCP1 -encoding transcripts. Here, we characterize two additional t(X;14) bearing leukemias allowing this analysis. In one case, with a breakpoint located 5' to the MTCP1 gene, the level of transcription of previously described p13 MTCP1 -encoding transcripts is enhanced. In the second case, with a breakpoint within the MTCP1 intron I, an alternative transcription initiation site is demonstrated in the tumor cells at 229 bp upstream to exon II. The identi®cation of this internal promoter, together with the similarity between TCL1 and MTCP1 genomic structures, allow us to propose a model in which the duplication of an ancestral gene was followed by the insertion of one copy within the intron of a p8-encoding gene, accounting for the unusual feature of the MTCP1 gene.

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Section: Discussionmentioning

confidence: 99%

Alternative origin of p13MTCP1-encoding transcripts in mature T-cell proliferations with t(X;14) translocations

et al. 1997

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“…The estimated DIo values in Gy were 1-3 for the AT homozygote and proband 1 (sister), 2-8 for proband 2 (brother) and the mother, 3-3 for the sister, 4 0 for the father, 4-5 for the AT heterozygote, and 7 0-9 4 for the controls. The results of chronic irradiation showed a similar radiosensitivity of the classical AT homozygote and proband 1 at least up to 4% survival level, while the asymptomatic parents and the sister clearly exhibited an intermediate radiosensitivity compared to the classical AT homozygote and the controls.…”

Section: Irradiation and Cell Survival Assaymentioning

confidence: 95%

Ataxia-ocular motor apraxia syndrome: an investigation of cellular radiosensitivity of patients and their families.

Hannan

Sigut

Waghray

et al. 1994

Journal of Medical Genetics

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Although ataxia-ocular motor apraxia (AOA) has been described as a disease entity mimicking ataxia telangiectasia (AT), no radiobiological studies have been carried out on cells from patients with AOA to find their possible relationship to AT. In the present study, cultured fibroblasts from three patients with AOA and their asymptomatic relatives (parents and sibs) were, therefore, compared with those from a classical AT homozygote, an AT heterozygote, and four healthy subjects for cell survival after acute and chronic irradiation. While a moderately increased cellular sensitivity (compared to normal) was observed in two AOA patients and most of their relatives, the degree of their radiosensitivity was quite different from that ofthe AT homozygote after both acute and chronic irradiation. One AOA patient exhibited increased cellular sensitivity similar to that of a classical AT homozygote up to 4% survival level after chronic irradiation but not after acute irradiation. A comparison of peripheral blood lymphocytes from two AOA patients, an AT homozygote, and two normal controls for spontaneous and (acute) radiation induced chromosomal breaks also failed to show any similarity between AOA and AT. These data support the notion that AOA is different from classical AT, and may represent a distinct disease entity controlled by specific gene(s), or compound heterozygotes involving different AT genes promoting the manifestation of AOA characteristics. (JMed Genet 1994;31:953-956)

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“…However, such associa tions have been observed in senescent human fibroblasts (Benn 1976;for review, see Dernburg et al 1995), in cells from patients with Thiberge-Weissenbach syndrome (Dutrillaux et al 1978) or ataxia telangiectasia (Hayashi and Schmid 1975;Taylor et al 1981), and, above all, in a variety of human tumors (for review, see Hastie and Allshire 1989;de Lange 1995). Telomeric fusions in se nescent and tumor cells are probably correlated with short telomere length (Counter et al 1992;Saltman et al 1993).…”

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confidence: 99%

UbcD1, a Drosophila ubiquitin-conjugating enzyme required for proper telomere behavior.

Cenci¹,

Rawson²,

Belloni³

et al. 1997

Genes Dev.

121

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The end-to-end association of chromosomes through their telomeres has been observed in normal cells of certain organisms, as well as in senescent and tumor cells. The molecular mechanisms underlying this phenomenon are currently unknown. We show here that five independent mutant alleles in the Drosophila UbcDl gene cause frequent telomere-telomere attachments during both mitosis and male meiosis that are not seen in wild type. These telomeric associations involve all the telomeres of the D. melanogaster chromosome complement, albeit with different frequencies. The pattern of telomeric associations observed in UbcDl mutants suggests strongly that the interphase chromosomes of wild-type larval brain cells maintain a Rabl orientation within the nucleus, with the telomeres and centromeres segregated to opposite sides of the nucleus. The UbcDl gene encodes a class I ubiquitin-conjugating (E2) enzyme. This indicates that ubiquitin-mediated proteolysis is normally needed to ensure proper telomere behavior during Drosophila cell division. We therefore suggest that at least one of the targets of UbcDl ubiquitination is a telomere-associated polypeptide that may help maintain proper chromosomal orientation during interphase.

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Spontaneous cytogenetic abnormalities in lymphocytes from thirteen patients with ataxia telangiectasia

Cited by 104 publications

References 15 publications

Alternative origin of p13MTCP1-encoding transcripts in mature T-cell proliferations with t(X;14) translocations

Alternative origin of p13MTCP1-encoding transcripts in mature T-cell proliferations with t(X;14) translocations

Ataxia-ocular motor apraxia syndrome: an investigation of cellular radiosensitivity of patients and their families.

UbcD1, a Drosophila ubiquitin-conjugating enzyme required for proper telomere behavior.

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