Constitutional telomeric dysfunction in an azoospermic male with extensive telomeric association

2010 ◽  
Vol 152A (9) ◽  
pp. 2413-2416 ◽  
Author(s):  
Iman Salahshourifar ◽  
Hamideh Karimi ◽  
Tayebeh Tavakolzadeh ◽  
Zahra Beheshti ◽  
Toyoki Maeda ◽  
...  
Genome ◽  
1987 ◽  
Vol 29 (1) ◽  
pp. 63-66 ◽  
Author(s):  
Batia Pazy ◽  
Uzi Plitmann

Idiosyncratic chromosome behaviour during meiosis was found in pollen mother cells of Cuscuta babylonica Choisy, a thread-like holoparasitic herb. Its main features are among the following: (i) telomeric association between homologues through most stages of the process, which leads to persisting chromatid bivalents (= "demibivalents"); (ii) uncommon chromosome segregation in first and second anaphase; and (iii) prolonged intensified heterochromatinization. Although "regular" in its own way, this process leads to the formation of unviable products. Its further investigation might contribute to our understanding of the role of the spindle and chromosome movement in the ordinary process of meiosis. Key words: meiosis (abnormal), persisting demibivalents, Cuscuta babylonica.


2005 ◽  
Vol 8 (6) ◽  
pp. 718-724 ◽  
Author(s):  
Hua Guo ◽  
Roberto A. Garcia ◽  
Mary Ann Perle ◽  
John Amodio ◽  
M. Alba Greco

Giant cell tumor of soft tissue (GCTST) has gained general acceptance as an uncommon but distinct primary soft tissue tumor since it was first described in 1972. GCTST is predominantly seen in adults and typically shows uniformly dispersed osteoclast-like giant cells admixed with oval to polygonal mononuclear cells. It usually follows a benign clinical course, although the malignant variant has been described in cases in which the mononuclear cells demonstrate obvious dysplastic features. It is still not clear whether the two variants belong to the spectrum of the same tumor. No cytogenetic chromosomal abnormalities have been reported in the literature of GCTST. Interestingly, the osseous counterpart of giant cell tumor, which shares similar histologic features, quite often displays a telomeric association at the cytogenetic level, a finding that has never been reported in GCTST. We report the case of a 12-year-old girl with GCTST of the right leg that metastasized to the lung. Cytogenetic studies from the primary tumor showed the phenomenon of telomeric association involving multiple chromosomes.


2009 ◽  
Vol 185 (5) ◽  
pp. 827-839 ◽  
Author(s):  
Qubo Zhu ◽  
Lingjun Meng ◽  
Joseph K. Hsu ◽  
Tao Lin ◽  
Jun Teishima ◽  
...  

Telomeric repeat binding factor 1 (TRF1) is a component of the multiprotein complex “shelterin,” which organizes the telomere into a high-order structure. TRF1 knockout embryos suffer from severe growth defects without apparent telomere dysfunction, suggesting an obligatory role for TRF1 in cell cycle control. To date, the mechanism regulating the mitotic increase in TRF1 protein expression and its function in mitosis remains unclear. Here, we identify guanine nucleotide-binding protein-like 3 (GNL3L), a GTP-binding protein most similar to nucleostemin, as a novel TRF1-interacting protein in vivo. GNL3L binds TRF1 in the nucleoplasm and is capable of promoting the homodimerization and telomeric association of TRF1, preventing promyelocytic leukemia body recruitment of telomere-bound TRF1, and stabilizing TRF1 protein by inhibiting its ubiquitylation and binding to FBX4, an E3 ubiquitin ligase for TRF1. Most importantly, the TRF1 protein-stabilizing activity of GNL3L mediates the mitotic increase of TRF1 protein and promotes the metaphase-to-anaphase transition. This work reveals novel aspects of TRF1 modulation by GNL3L.


1988 ◽  
Vol 30 (1) ◽  
pp. 23-33 ◽  
Author(s):  
N. Mandahl ◽  
S. Heim ◽  
K. Arheden ◽  
A. Rydholm ◽  
H. Willén ◽  
...  

1994 ◽  
Vol 9 (1) ◽  
pp. 68-71 ◽  
Author(s):  
Kathleen E. Richkind ◽  
Debra Wason ◽  
Humberto J. Vidaillet

2013 ◽  
Vol 161 (6) ◽  
pp. 1436-1441
Author(s):  
Claire Beneteau ◽  
Sabine Baron ◽  
Albert David ◽  
Frédérique Jossic ◽  
Damien Poulain ◽  
...  

1987 ◽  
Vol 28 (2) ◽  
pp. 363-366 ◽  
Author(s):  
Gyula Kovacs ◽  
Renate Müller-Brechlin ◽  
Sandor Szücs

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