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Regulation and expression of type V (tartrate-resistant) acid phosphatase in human mononuclear phagocytes. V型(抗酒石酸盐)酸性磷酸酶在人单核吞噬细胞中的调控和表达。
Molecular biology & medicine Pub Date : 1991-02-01
M A Bevilacqua, D K Lord, N C Cross, K B Whitaker, D W Moss, T M Cox
{"title":"Regulation and expression of type V (tartrate-resistant) acid phosphatase in human mononuclear phagocytes.","authors":"M A Bevilacqua,&nbsp;D K Lord,&nbsp;N C Cross,&nbsp;K B Whitaker,&nbsp;D W Moss,&nbsp;T M Cox","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Human type V (tartrate-resistant) acid phosphatase belongs to a unique group of iron-binding proteins that includes uteroferrin and other purple phosphatases. The enzyme is normally restricted to osteoclasts and certain phagocytic cells but its rôle is unknown. We show that phosphatase mRNA is abundant in cells of monohistiocytic phenotype and that enzyme expression in cultured human monocyte-derived macrophages is depressed by gamma-interferon and bacterial lipopolysaccharide, agents that promote functional differentiation in these cells. In contrast, phorbol ester, which stimulates intracellular calcium-mediated events, greatly enhances type V phosphatase expression and mRNA abundance. Lymphokine and phorbol ester-modulated expression of type V acid phosphatase expression thus represents a model system for investigating proliferative responses that are specific to cells of the mononuclear macrophage system.</p>","PeriodicalId":77573,"journal":{"name":"Molecular biology & medicine","volume":"8 1","pages":"135-40"},"PeriodicalIF":0.0,"publicationDate":"1991-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13102155","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism. 人类酪氨酸酶基因错义突变在I型(酪氨酸酶相关)眼皮肤白化病中的非随机分布。
Molecular biology & medicine Pub Date : 1991-02-01
R A King, M M Mentink, W S Oetting
{"title":"Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism.","authors":"R A King,&nbsp;M M Mentink,&nbsp;W S Oetting","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Type I oculocutaneous albinism (OCA) is produced by mutations of the tyrosinase gene. We report four new missense mutations in the tyrosinase gene in patients with type IA OCA. Three of these mutations occur within exon I and the fourth mutation within exon IV. Analysis of the distribution of these four missense mutations and 12 previously reported missense mutations shows that most cluster in four areas of the gene. Two clusters involve the copper A and copper B binding sites and could disrupt the metal ion-protein interaction necessary for enzyme function. The other two clusters are in exon I and exon IV and could represent important functional domains of the enzyme. We conclude that analysis of the tyrosinase missense mutations will provide insight into the structure-function relationship of this enzyme.</p>","PeriodicalId":77573,"journal":{"name":"Molecular biology & medicine","volume":"8 1","pages":"19-29"},"PeriodicalIF":0.0,"publicationDate":"1991-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13102156","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Histidase and histidinemia. Clinical and molecular considerations. 组氨酸酶和组氨酸血症。临床和分子的考虑。
Molecular biology & medicine Pub Date : 1991-02-01
R G Taylor, H L Levy, R R McInnes
{"title":"Histidase and histidinemia. Clinical and molecular considerations.","authors":"R G Taylor,&nbsp;H L Levy,&nbsp;R R McInnes","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Histidase (histidine ammonia-lyase, EC 4.3.1.3) catalyzes the deamination of L-histidine to trans-urocanic acid in the liver and skin of mammals. Histidase deficiency results in increased histidine and histamine in blood, and decreased urocanic acid in blood and skin. In this review we discuss current research on: (1) the mechanism of formation of an unusual residue, dehydroalanine, at the active site of histidase; and (2) the role of urocanic acid as an ultraviolet light-induced immunoregulator in the skin, and the implications of urocanic acid deficiency for human histidinemia. Genetic mechanisms that may account for the 1% of histidinemic patients with neurological impairments are considered briefly.</p>","PeriodicalId":77573,"journal":{"name":"Molecular biology & medicine","volume":"8 1","pages":"101-16"},"PeriodicalIF":0.0,"publicationDate":"1991-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13102152","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Non-ketotic hyperglycinemia: an aim of the second generation of studies on pathogenesis. 非酮症性高血糖:第二代发病机制研究的目标。
Molecular biology & medicine Pub Date : 1991-02-01
K Hiraga, H Koyata, T Sakakibara, Y Ishiguro, C Matsui
{"title":"Non-ketotic hyperglycinemia: an aim of the second generation of studies on pathogenesis.","authors":"K Hiraga,&nbsp;H Koyata,&nbsp;T Sakakibara,&nbsp;Y Ishiguro,&nbsp;C Matsui","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Non-ketotic hyperglycinemia is caused by a molecular lesion involved in the glycine cleavage system and shows striking features representing the impaired central nervous system. For the study on molecular genetics of non-ketotic hyperglycinemia, we have isolated several cDNA clones, each encoding human glycine decarboxylase of H-protein, two of the four component enzymes of the glycine cleavage system. Although one of eight patients with this disease resulting from a lesion of glycine decarboxylase had the glycine decarboxylase gene deleted at a 5' region, they showed no common aberration detectable by glycine decarboxylase cDNA. Using the H-protein cDNA, we have demonstrated the rearranged structures, identified by one of the undetectable 5.0 and 5.5 kb SacI fragments, in the genomes of patients in whom there was an impaired expression of H-protein or glycine decarboxylase. The aberration of the 5.5 kb SacI fragment was associated with a defect of the 5.2 kb EcoRI fragment. Multiple genomic lesions are suggested for non-ketotic hyperglycinemia, and their implications in pathogenesis are discussed.</p>","PeriodicalId":77573,"journal":{"name":"Molecular biology & medicine","volume":"8 1","pages":"65-79"},"PeriodicalIF":0.0,"publicationDate":"1991-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13103543","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Spontaneous and radiation-induced genetic instability of heteromyeloma hybridoma cells. 异髓瘤杂交瘤细胞的自发和辐射诱导的遗传不稳定性。
Molecular biology & medicine Pub Date : 1990-12-01
J F Harris, J Koropatnick, J Pearson
{"title":"Spontaneous and radiation-induced genetic instability of heteromyeloma hybridoma cells.","authors":"J F Harris,&nbsp;J Koropatnick,&nbsp;J Pearson","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>We have examined the genetic stability of heteromyeloma cells both spontaneously and following ionizing radiation. Clones of E10 cells (SHM-D33 heteromyeloma X human lymphoblastoid) were examined for the stability of human immunoglobulin (Ig) production (mu, lambda), relative human and mouse DNA, and total DNA content. The stability of recloned E10 cells was improved more than fourfold relative to the stability of the nascent E10 cells. The spontaneous loss of human Ig production in the established E10 cells was approximately 1.5 x 10(-3) events/cell per generation, which is comparable to mouse hybridomas. In contrast to the relative stability of antibody production, the relative human DNA content of antibody producing clones of E10.26 cells showed considerable variation (median, 15%; range, 4 to 23% for 30 clones) although the total DNA content of the clones was relatively constant (1.2(+/- 0.1) x 10(-12)g/cell). The frequency of Ig(mu-) antibody loss variants was increased in three subclones of E10 cells following irradiation (P less than 0.05, 20 to 90 Ig(mu-) variants/10(5) cells per Gray. In addition, the human DNA content per cell was significantly reduced (P less than 0.001) in a sample of irradiated E10 clones, while the total DNA content per cell was constant. We conclude that, although the antibody production is relatively stable in heteromyeloma cells, the relative human DNA content is constantly drifting by small amounts while maintaining a constant DNA content.</p>","PeriodicalId":77573,"journal":{"name":"Molecular biology & medicine","volume":"7 6","pages":"485-93"},"PeriodicalIF":0.0,"publicationDate":"1990-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13233145","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Characterization of pathological dystrophin transcripts from the lymphocytes of a muscular dystrophy carrier. 肌萎缩症患者淋巴细胞病理性肌营养不良蛋白转录物的表征。
Molecular biology & medicine Pub Date : 1990-12-01
M Schloesser, R Slomski, M Wagner, J Reiss, L P Berg, V V Kakkar, D N Cooper
{"title":"Characterization of pathological dystrophin transcripts from the lymphocytes of a muscular dystrophy carrier.","authors":"M Schloesser,&nbsp;R Slomski,&nbsp;M Wagner,&nbsp;J Reiss,&nbsp;L P Berg,&nbsp;V V Kakkar,&nbsp;D N Cooper","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Both normal and pathological transcripts of tissue-specific genes may be detected by polymerase chain reaction (PCR) amplification in tissues not normally considered to express the gene product. The exploitation of constitutive basal mRNA levels (\"ectopic\" transcription) would be a major boon to diagnostic medicine since it promises both to simplify the analysis of complex genes and to avoid the requirement for an expressing tissue that is sometimes obtainable only by biopsy. We have demonstrated the feasibility of this novel strategy by characterizing a mutation in the X-chromosomal Duchenne (or Becker) muscular dystrophy (DMD/BMD) gene encoding dystrophin. The massive size of this gene has in the past often hindered carrier detection due to the high frequency of recombination and the high proportion of new mutations. In this study a deletion was identified in both a BMD patient and a heterozygous carrier using only a minimal volume of peripheral blood. Following specifically primed reverse transcription of lymphocyte RNA, the relevant region of the pathological cDNA was PCR-amplified. Sequence analysis indicated an in-frame deletion of exons 45 to 47.</p>","PeriodicalId":77573,"journal":{"name":"Molecular biology & medicine","volume":"7 6","pages":"519-23"},"PeriodicalIF":0.0,"publicationDate":"1990-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"12870234","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Suppression of immunological response against a novel gene product delivered by implants of genetically modified fibroblasts. 对转基因成纤维细胞植入物传递的新基因产物的免疫应答抑制。
Molecular biology & medicine Pub Date : 1990-12-01
V J Bennett, P L Chang
{"title":"Suppression of immunological response against a novel gene product delivered by implants of genetically modified fibroblasts.","authors":"V J Bennett,&nbsp;P L Chang","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>We have recently demonstrated the feasibility of genetically modifying autologous primary rat fibroblasts to deliver in vivo a foreign gene product, human growth hormone. However, in this model for gene replacement therapy, all recipient animals developed extremely high titres of antibodies against human growth hormone within two weeks of grafting. We now report on two approaches to suppress this immune-response. First, rats implanted with human growth hormone-secreting rat fibroblasts were treated with an immunosuppressant, cyclosporine A, at 20 mg/kg body weight per day. The production of anti-human growth hormone antibodies in the treated animals was completely blocked during the 12-week course of treatment. Secondly, by using immunologically immature neonatal rats as recipients, the rapid antibody response to the human growth hormone was also avoided. However, after a delay of one month, these rats also developed an extremely high titre of antibodies against the human growth hormone. In comparison, rats in the adolescent, mature and aged groups developed and maintained high titres of antibodies soon after implantation. Therefore, antigenic response against novel gene products can be suppressed either totally by cyclosporine A or temporarily in neonatal animals. The combination of early implantation and subsequent immuno-suppression should be considered in somatic gene therapy for those patients who are negative for cross-reacting-material and may be expected to mount an antigenic response to the replacement gene product.</p>","PeriodicalId":77573,"journal":{"name":"Molecular biology & medicine","volume":"7 6","pages":"471-7"},"PeriodicalIF":0.0,"publicationDate":"1990-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13232573","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Sequence diversity of hepatitis C viral genomes. 丙型肝炎病毒基因组序列多样性研究
Molecular biology & medicine Pub Date : 1990-12-01
N Kato, M Hijikata, Y Ootsuyama, M Nakagawa, S Ohkoshi, K Shimotohno
{"title":"Sequence diversity of hepatitis C viral genomes.","authors":"N Kato,&nbsp;M Hijikata,&nbsp;Y Ootsuyama,&nbsp;M Nakagawa,&nbsp;S Ohkoshi,&nbsp;K Shimotohno","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The nucleotide sequences of cDNAs (275 base-pairs) in the non-structural protein 5 regions of Japanese isolates of hepatitis C virus (HCV-J) from the plasma of 11 patients with non-A, non-B hepatitis and the livers of five patients with hepatocellular carcinoma were analyzed. Approximately 14 to 17% of nucleotide sequences of the HCV-Js examined differed from that of the original isolate in the United States (HCV-US). Furthermore, 2.5 to 11% sequence diversity was found among the HCV-Js. The nucleotide sequences of the HCV-Js showed characteristic common differences from that of HCV-US, although they also showed some random substitutions. Plural HCV-J genomes were found in two of the cDNAs derived from liver specimens, and a deletion of 102 nucleotides was found in the cDNA derived from one plasma specimen. These results suggest that HCV-J is a strain different from the HCV-US and that mutation of the viral genome occurs at as high a frequency as in that of the human immunodeficiency virus.</p>","PeriodicalId":77573,"journal":{"name":"Molecular biology & medicine","volume":"7 6","pages":"495-501"},"PeriodicalIF":0.0,"publicationDate":"1990-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13122847","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genotypic analyses of Hodgkin's disease. 何杰金氏病的基因型分析。
Molecular biology & medicine Pub Date : 1990-12-01
D J Bernard, Y J Bignon, Y Fonck, F Ramos, J Chassagne, P Chollet, R Plagne
{"title":"Genotypic analyses of Hodgkin's disease.","authors":"D J Bernard,&nbsp;Y J Bignon,&nbsp;Y Fonck,&nbsp;F Ramos,&nbsp;J Chassagne,&nbsp;P Chollet,&nbsp;R Plagne","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>In spite of the use of molecular biology, the cellular lineage and clonality of Reed-Sternberg cells, the abnormal cells of Hodgkin's disease, remain an enigma. We studied the pattern of rearrangements at immunoglobulin and T-cell receptor loci in 23 patients suffering from Hodgkin's disease. Two out of 23 patients exhibited immunoglobulin gene rearrangements. No rearrangements of the T-cell receptor beta-chain gene were detected in any patient examined. Our results showed no correlation between the presence of rearranged bands and the number of Reed-Sternberg cells.</p>","PeriodicalId":77573,"journal":{"name":"Molecular biology & medicine","volume":"7 6","pages":"503-9"},"PeriodicalIF":0.0,"publicationDate":"1990-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13122848","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Evidence for involvement of a Robertsonian translocation 13 chromosome in formation of a ring chromosome 13. 罗伯特易位13号染色体参与环状13号染色体形成的证据。
Molecular biology & medicine Pub Date : 1990-12-01
G Stetten, C M Tuck-Muller, K J Blakemore, C Wong, H H Kazazian, S E Antonarakis
{"title":"Evidence for involvement of a Robertsonian translocation 13 chromosome in formation of a ring chromosome 13.","authors":"G Stetten,&nbsp;C M Tuck-Muller,&nbsp;K J Blakemore,&nbsp;C Wong,&nbsp;H H Kazazian,&nbsp;S E Antonarakis","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>We have used molecular and cytogenetic methods to study the derivation of a ring chromosome 13 in the fetus of a woman mosaic for a translocation chromosome 13. DNA analysis showed that the translocation chromosome was a Robertsonian translocation, not an isochromosome. We suggest that the ring is derived from the translocation chromosome by breaks in both long arms and subsequent reunion, r(13) (q12q14).</p>","PeriodicalId":77573,"journal":{"name":"Molecular biology & medicine","volume":"7 6","pages":"479-84"},"PeriodicalIF":0.0,"publicationDate":"1990-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13232574","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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