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1.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 30(4): 415-9, 2013 Aug.
Article in Chinese | MEDLINE | ID: mdl-23926007

ABSTRACT

OBJECTIVE: To assess the value of fluorescence in situ hybridization (FISH) and bacterial artificial chromosome FISH (BAC-FISH) for the diagnosis for patients with marker chromosomes. METHODS: Sixteen patients with marker chromosomes were analyzed with technologies including GTG-banding, Q-banding, multiplex FISH and BAC-FISH. RESULTS: The marker chromosomes in the 16 patients were verified as der(Y) (2 cases), psu dic(Y) (1 case), psu dic(15) (1 case), dic(15) (1 case), del(Y) (1 case), r(X) (5 cases), i(14 or 22) (2 cases), i(18) (1 case). CONCLUSION: FISH and BAC-FISH can both verify the origin of marker chromosomes and provide accurate information for the diagnosis and treatment of patients.


Subject(s)
Chromosome Aberrations , Genetic Diseases, Inborn/genetics , Genetic Markers/genetics , In Situ Hybridization, Fluorescence/methods , Adolescent , Adult , Child , Female , Genetic Diseases, Inborn/diagnosis , Humans , Male , Young Adult
2.
J Cell Sci ; 117(Pt 23): 5609-21, 2004 Nov 01.
Article in English | MEDLINE | ID: mdl-15494375

ABSTRACT

Retinoid X receptor (RXR) plays a crucial role in the cross talk between retinoid receptors and other hormone receptors including the orphan receptor TR3, forming different heterodimers that transduce diverse steroid/thyroid hormone signaling. Here we show that RXRalpha exhibits nucleocytoplasmic shuttling in MGC80-3 gastric cancer cells and that RXRalpha shuttling is energy-dependent through a nuclear pore complex (NPC)-mediated pathway for its import and an intact DNA binding domain-mediated pathway for its export. In the presence of its ligand 9-cis retinoic acid, RXRalpha was almost exclusively located in the cytoplasm. More importantly, we also show that RXRalpha acts as a carrier to assist translocation of TR3, which plays an important role in apoptosis. Both RXRalpha and TR3 colocalized in the nucleus; however, upon stimulation by 9-cis retinoic acid they cotranslocated to the cytoplasm and then localized in the mitochondria. TR3 export depends on RXRalpha, as in living cells GFP-TR3 alone did not result in export from the nucleus even in the presence of 9-cis retinoic acid, whereas GFP-TR3 cotransfected with RXRalpha was exported out of the nucleus in response to 9-cis retinoic acid. Moreover, specific reduction of RXRalpha levels caused by anti-sense RXRalpha abolished TR3 nuclear export. In contrast, specific knockdown of TR3 by antisense-TR3 or TR3-siRNA did not affect RXRalpha shuttling. These results indicate that RXRalpha is responsible for TR3 nucleocytoplasmic translocation, which is facilitated by the RXRalpha ligand 9-cis retinoic acid. In addition, mitochondrial TR3, but not RXRalpha, was critical for apoptosis, as TR3 mutants that were distributed in the mitochondria induced apoptosis in the presence or absence of 9-cis retinoic acid. These data reveal a novel aspect of RXRalpha function, in which it acts as a carrier for nucleocytoplasmic translocation of orphan receptors.


Subject(s)
Receptors, Steroid/metabolism , Receptors, Thyroid Hormone/metabolism , Retinoid X Receptor alpha/metabolism , Stomach Neoplasms/metabolism , Tretinoin/metabolism , 3T3 Cells , Active Transport, Cell Nucleus/physiology , Alitretinoin , Animals , Apoptosis/physiology , Cell Nucleus/metabolism , Cytoplasm/metabolism , DNA-Binding Proteins/metabolism , Down-Regulation/physiology , Green Fluorescent Proteins , HeLa Cells , Humans , Mice , Mitochondria/metabolism , Nuclear Pore/metabolism , Nuclear Receptor Subfamily 4, Group A, Member 1 , Oligonucleotides, Antisense/pharmacology , Protein Transport/physiology , RNA Interference , Receptors, Steroid/genetics , Receptors, Thyroid Hormone/genetics , Retinoid X Receptor alpha/genetics
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