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H Yi

Publications and source records attributed to H Yi.

At least 91 records · Page 5Linked to original sources
PubMed1994

Localization of two genes encoding plasma membrane Ca2+ ATPases isoforms 2 (ATP2B2) and 3 (ATP2B3) to human chromosomes 3p26-->p25 and Xq28, respectively.

The plasma membrane Ca2+ ATPases (PMCA) represent a highly conserved, widely dispersed, multigene family in eukaryotes consisting of at least four functional genes. The genes for PMCA isoforms 1 and 4 (ATP2B1 and ATP2B4) have been previously localized to human chromosomes 12q21-->q23 and 1q25-->q32, respectively. Based upon results of fluorescence in situ hybridization (FISH), analysis of somatic cell hybrids, and genetic linkage analyses, we now report localization of ATP2B3 (PMCA isoform 3) to human chromosome Xq28, and confirm the recent localization of ATP2B2 (PMCA isoform 2) to chromosome 3p26-->p25. In contrast to ATP2B1 and ATP2B4, recent studies have suggested tissue specific regulation of expression of both ATP2B2 and ATP2B3 particularly in the nervous system. The genes for several neurological and neuromuscular diseases have been assigned to the distal portion of Xq, and ATP2B3 is a candidate gene for these diseases.

Calcium-Transporting ATPases↗
PubMed1994

Localization of the MAGE1 gene encoding a human melanoma antigen to chromosome Xq28.

MAGE1 encodes a tumor specific antigen MZ2-E that elicited a cytotoxic T lymphocytic response (CTL) in the patient from whom it was derived. In this study, cDNA and genomic probes have been used to localize this gene by Southern analysis of a human-rodent somatic cell hybrid panel. The probes detect a small multigene family, and both MAGE1 and several other members of this family are located on the long arm of the human X chromosome. A cosmid with a 12-kb insert including the entire MAGE1 gene was biotinylated and used to further localize the gene to Xq28 by in situ hybridization of metaphase spreads. The function of this antigen in normal cells and tumor cells currently remains unclear.

Animals↗
PubMed1994

Serial evaluation of parathyroid size by ultrasonography is another useful marker for the long-term prognosis of calcitriol pulse therapy in chronic dialysis patients.

To clarify whether the changes of parathyroid size have any correlations with the long-term prognosis of calcitriol pulse therapy, we examined the time course of serum levels of parathyroid hormone (PTH) and size of parathyroid glands in 14 chronic dialysis patients during and after the oral calcitriol pulse therapy. In 5 patients without any detectable glands, secondary hyperparathyroidism was easily controlled by calcitriol pulse therapy and then by conventional oral active vitamin D therapy. In 2 patients with detectable gland(s) in whom size of all parathyroid glands as well as PTH hypersecretion regressed to normal by calcitriol pulse therapy, secondary hyperparathyroidism could then remain controlled at least for 12 months after switching to conventional oral active vitamin D therapy. In contrast, in 7 patients in whom size of all parathyroid glands did not regress to normal by calcitriol pulse therapy, secondary hyperparathyroidism relapsed after switching to the conventional therapy, even if PTH hypersecretion could be controlled temporarily. Our findings suggest that the time course of parathyroid hyperplasia detected by ultrasonography is an important determinant of the efficacy and the prognosis of calcitriol pulse therapy. Thus, the change of parathyroid gland size as well as PTH hypersecretion should be taken into account for the management of secondary hyperparathyroidism.

Administration, Oral↗
PubMed1993

Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans.

The interleukin-2 (IL-2) receptor gamma chain (IL-2R gamma) is a component of high and intermediate affinity IL-2 receptors that is required to achieve full ligand binding affinity and internalization. We have localized the IL-2R gamma gene to human chromosome Xq13. Genetic linkage analysis indicates that the IL-2R gamma gene and the locus for X-linked severe combined immunodeficiency (XSCID) appear to be at the same position. Moreover, we demonstrate that each of three unrelated patients with XSCID has a different mutation in his IL-2R gamma gene resulting in a different premature stop codon and predicted C-terminal truncation. These data establish that XSCID is associated with mutations of the IL-2R gamma gene product. Since XSCID is characterized by absent or markedly reduced numbers of T cells, our findings imply that IL-2R gamma plays a vital role in thymic maturation of T cells. These results also have important implications for prenatal and postnatal diagnosis, carrier female detection, and gene therapy for XSCID.

Base Sequence↗
PubMed1993

Brain potentials in a phonological matching task using Chinese characters.

In readers of English, involved in a rhyme judgement task, mismatch trials are associated with an enhanced N450 component of the Event Related Potentials (ERPs). It has been suggested that N450 is related to orthographic or phonological priming. In this paper ERPs were recorded during a phonological matching task, using pairs of logographically dissimilar Chinese characters. A pair was considered to match if they sounded alike with identical phoneme sequences. The subjects (native Chinese speakers) were instructed to ignore vowel-inflections, which in Chinese have lexical status. Since sublexical assembly of phonology is not used in reading Chinese characters, and the members of each pair were logographically dissimilar, match and mismatch trials did not suffer in the amount of orthographic or sublexical phonological priming. An enhanced negative component (latency near 400 msec), was observed in ERPs elicited by the second character in non-matching pairs. The negativity could be similar to N450. If this were so, then N450 could not be associated with orthographic priming, nor with sublexical phonology, but would probably be associated with postlexical processing. Also, in both readers of Chinese and English, the negativity enhanced in non-match trials is larger over the right side of the scalp, suggesting a similar brain lateralization of the underlying processes.

Adolescent↗
PubMed1993

Ocular pathology of MELAS syndrome with mitochondrial DNA nucleotide 3243 point mutation.

PURPOSE: The authors describe the clinical, histopathologic, and ultrastructural findings in two eyes obtained at autopsy from a 21-year-old woman with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS syndrome). METHODS: The eyes were obtained immediately after death. The right eye was fixed in 10% neutral-buffered formalin and processed for standard histologic examination. The left eye was fixed in a neutral-buffered 2.5% glutaraldehyde solution and processed for transmission electron microscopic examination. The authors compared the histologic and ultrastructural findings with the clinical features recorded photographically. RESULTS: The main clinical ophthalmologic features were bilateral ptosis, chronic external ophthalmoplegia, diffuse choroidal atrophy, atypical pigmentary retinopathy with macular involvement, and patchy atrophy of the iris stroma. Molecular genetic analysis detected a tRNA Leu (UUR) point mutation at position 3243 of mitochondrial DNA (MELAS genotype). Results of histologic and ultrastructural examination showed ragged-red fibers in the rectus muscles, degeneration of photoreceptor outer segments in the macula, hyperpigmentation and atrophy of the retinal pigment epithelium of the macula, atrophy of the iris stroma, early posterior subcapsular cataract, and optic atrophy. The retinal pigment epithelium, inner segments of the photoreceptors, smooth muscle cells of the choroidal and retinal vessels, the dilator and sphincter muscle of the iris, cornea, lens epithelium, and ciliary epithelium all contained many, often enlarged, structurally abnormal mitochondria with occasional paracrystalline inclusions and circular cristae. CONCLUSIONS: The MELAS-associated mitochondrial DNA nucleotide 3243 point mutation can cause a spectrum of ocular signs and symptoms that may be dependent on the patient's age and the amount of mutant mitochondrial DNA in the tissue. MELAS syndrome should be considered in the differential diagnosis of bilateral ptosis, external ophthalmoplegia, and atypical pigmentary retinopathy with macular involvement.

Adult↗
PubMed1993

Localization of the hydroxyindole-O-methyltransferase gene to the pseudoautosomal region: implications for mapping of psychiatric disorders.

The human hydroxyindole-O-methyltransferase (HIOMT) gene has been mapped to the X chromosome using cDNA probes from the 3' and 5' regions of a human cDNA clone. Southern blot analysis of a panel of human-rodent somatic cell hybrid DNAs revealed that the gene was localized to the short arm of chromosome X, and most probably the pseudoautosomal region of the human X (Xp22.3) and Y (Yp11.3) chromosomes. Several multiallelic restriction fragment length polymorphisms were detected at this locus allowing further localization of the gene by two-point and multipoint linkage analysis in the 40 CEPH families. These results confirmed the pseudoautosomal localization of the HIOMT gene and allowed ordering of the gene in close proximity to DXYS17 at a position about 600-800 kb from the pseudoautosomal boundary and about 1800 to 2000 kb from the telomere. It will be possible to readily identify or exclude the involvement of this gene in genetic diseases by linkage analysis of the disease locus with the high frequency multiallelic polymorphisms at this locus.

Acetylserotonin O-Methyltransferase↗
PubMed1993

Skeletal 210Pb levels and lung cancer among radon-exposed tin miners in southern China.

A preliminary case-control study of 19 lung cancer cases older than 55 y and 141 age-matched controls was carried out among a group of underground miners in Southern China who were exposed to 222Rn and its decay products. 210Pb activity levels were measured in the skull to estimate radon exposure. Radon exposure was also estimated in working level months, based on work histories and available industrial hygiene data. There was a smooth gradient of lung cancer risk with categories of skeletal 210Pb level at time of last radon exposure; relative risks of 1.0, 2.9, 3.2, and 4.7 for categories < 51.8, 51.8-77.7, 77.8-107.3, and > or = 107.4 Bq (< 1,400, 1,400-2,099, 2,100-2,899, and > or = 2,900 pCi), respectively. Relative risks were unaffected by adjustment for exposure to arsenic in the mine or by adjustment for working level months. Risks also increased with cumulative working level month exposure, but the gradient of risk lessened after adjustment for exposure to arsenic. 210Pb, at the time of last radon exposure (p = 0.13) and at the current 210Pb level (p = 0.01), was not highly correlated with the working level month estimate. Data were sparse but smoking had minimal effect on risk gradient with level of skeletal 210Pb activity. This study suggests measured 210Pb level may be a more precise predictor of lung cancer risk than working level month.

Case-Control Studies↗
PubMed1992

Roles of heme insertion and the mannose-6-phosphate receptor in processing of the human myeloid lysosomal enzyme, myeloperoxidase.

Biosynthesis of myeloperoxidase (MPO), a myeloid lysosomal hemoprotein critical for the optimal oxygen-dependent microbicidal activity of human neutrophils, is incompletely understood. The primary translation product undergoes cotranslational N-linked glycosylation with subsequent insertion of the Fe-containing prosthetic group into the peptide backbone, thereby converting the enzymatically inactive, heme-free apoproMPO into the peroxidatively active precursor, proMPO. Eventually, proMPO undergoes proteolytic processing into native, lysosomal MPO, with subunits of 59 and 13.5 Kd. We studied three unanswered questions regarding MPO biosynthesis: (1) At what point during MPO biosynthesis is the heme moiety inserted into the apoenzyme? (2) What consequences does heme-insertion have on subsequent processing events? (3) What role does the mannose-6-phosphate receptor (M6PR) system play in the delivery of MPO to the lysosome? Disruption of Golgi by brefeldin A (BFA) produced two major changes in MPO biosynthesis: (1) processing of the 89-Kd precursor to mature MPO was blocked and (2) constitutive secretion of the MPO precursor was inhibited. Inhibition of heme synthesis with succinyl acetone (SA) reduced peroxidase activity and profoundly blocked processing of proMPO to mature MPO. This inhibition of processing was not a generalized effect on all lysosomal enzymes, because the maturation of a non-heme-containing lysosomal enzyme, beta-glucuronidase, was not altered. Electron microscopy showed that, although the normal peroxidase staining of endoplasmic reticulum was absent in SA-treated cells, there were MPO-related peptides in the ER. The role of the M6PR system was assessed by immunoprecipitating fractions obtained from M6PR affinity column chromatography. The 89-Kd proMPO failed to adhere to the M6PR affinity column, whereas the 59-Kd heavy subunit of mature MPO was specifically eluted from the column. We interpret these data to indicate that: (1) processing of proMPO to mature MPO occurs in a post-ER compartment that is itself BFA-sensitive or is distal to a BFA-sensitive compartment and (2) heme insertion into apoproMPO precedes and may be a prerequisite for proteolytic processing to enzymatically active mature MPO. Our analysis of the M6PR system in MPO biosynthesis led to the unanticipated finding that there were phosphomannosyl residues on mature MPO, but none on proMPO. We suggest that the bulk of proMPO at any time is not phosphorylated, but, when generated, the phosphorylated proMPO is quickly processed to the phosphorylated 59-Kd subunit of mature MPO. Thus, if the M6PR is important in the intracellular transport of MPO, it is the phosphorylated mature MPO that is directed to the lysosomal compartment by this system.(ABSTRACT TRUNCATED AT 400 WORDS)

Brefeldin A↗
PubMed1992

The morphologic characteristics of tumor blood vessels as a marker of tumor progression in primary human uveal melanoma: a matched case-control study.

Nine morphologic patterns of tumor vessels were identified in eyes removed for ciliary body or choroidal melanoma by the examination of tissue sections stained with fluorescein-conjugated Ulex europaeus I using laser scanning confocal microscopy. This technique also highlights intravascular tumor invasion. Each of these nine morphologic patterns of tumor vessels also may be demonstrated by a modification of the periodic acid-Schiff reaction, viewed with a green narrow band pass filter, but this modified histochemical technique does not accurately identify intravascular tumor invasion. Most tumors have a heterogeneous distribution of vascular patterns. Melanomas in two groups of 20 tumors each were matched by tumor size and location (one group of tumors from patients who survived at least 15 years free of metastatic melanoma after enucleation and one group of tumors from patients who died of metastatic melanoma). A matched case-control analysis indicates that the presence of at least one closed vascular loop in a uveal melanoma is the most significant vascular pattern associated with death from metastatic melanoma after enucleation. Closed loops are associated with other histologic features that are predictive of an unfavorable outcome after enucleation: epithelioid cells and mitotic figures. In this preliminary study the formation of closed vascular loops is a marker of tumor progression in ciliary body and choroidal melanomas.

Adult↗
PubMedDate not supplied

Tetrin polypeptides are colocalized in the cortex of Tetrahymena.

There is a complex system of 2- to 5-nm filaments in the oral apparatus of Tetrahymena. Four major subunit proteins, called tetrins, have been isolated from the filaments. These proteins, showing apparent molecular weights in polyacrylamide gels of 79-89 kDa, will assemble in vitro into 2- to 5-nm filaments. Tetrin filaments in vivo show different packing arrangements in different regions of the oral apparatus. We sought to determine the distributions of tetrin polypeptides within the complex oral structure by obtaining monoclonal antibodies specific for individual tetrins, then mapping their distributions within the oral apparatus using standard fluorescence microscopy, confocal laser scanning fluorescence microscopy, and electron microscopy. The results indicate that the four tetrin polypeptides are colocalized everywhere within the oral apparatus of Tetrahymena. Tetrin-binding proteins or specific nucleating structures may need to be invoked to explain the complex organization of the tetrin network. The 16 monoclonal antibodies obtained were also used to search for evidence of immunological relationships between tetrin and cytoskeletal proteins in multicellular organisms. None was found.

Animals↗
PubMedDate not supplied

Effect of IL-12 on T-cell immune responses in patients with chronic HCV infection.

As the host's immune responses may determine the outcome of hepatitis C virus (HCV) infection, and interleukin (IL)-12 plays an essential role in host defense against infectious diseases, we studied the antigen-specific and non-specific cellular immune responses in patients with chronic HCV infection. A proliferative response to phytohemagglutinin (PHA) was found in all 20 patients. Of the 20, 8 (40%) displayed a lymphocyte proliferation in response to HCV antigen c22, 2 (10%) to c33, 6 (30%) to c100-3, and 1 (5%) to NS5. The addition of rhIL-12 to cultures of peripheral blood mononuclear cells (PBMC) stimulated with PHA significantly enhanced the proliferative responses in normal controls as well as in HCV-infected subjects. The increased proliferation was also observed in HCV-infected patients when PBMC were co-cultured with HCV antigens c22 and c100-3 in the presence of rhIL-12. The production of interferon gamma (IFNgamma), IL-2, IL-4 and IL-10 was observed in 7 (58.3%), 5 (41.7%), 3 (25.0%) and 5 (41.7%) HCV-infected individuals stimulated with c22, and in 4 (33.3%), 2 (16.7%), 2 (16.7%) and 2 (16.7%) with c100-3, respectively. All HCV-infected individuals had increased production of cytokines IFNgamma, IL-2, IL-4 and IL-10 in supernatants of PBMC after stimulation with PHA. IL-12 significantly augmented Th1 cytokine production in HCV-infected individuals stimulated with PHA and with HCV antigens. In conclusion, deficient cellular immune responses are present in HCV-infected patients and IL-12 can enhance the immune responses in these patients.

Adult↗