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An assessment of the radiosensitivity of ataxia-telangiectasia heterozygotes. 共济失调-毛细血管扩张杂合子放射敏感性的评价。
Kroc Foundation series Pub Date : 1985-01-01
C F Arlett, A Priestley
{"title":"An assessment of the radiosensitivity of ataxia-telangiectasia heterozygotes.","authors":"C F Arlett,&nbsp;A Priestley","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Heterozygotes of ataxia-telangiectasia (AT) can, in certain parts of the world, represent a significant proportion of the population. Epidemiological studies suggest that they are more cancer prone than normal individuals. Fibroblasts of five AT heterozygotes are significantly more sensitive to gamma irradiation (mean D0 = 1.18 Gy) than five normals (mean D0 = 1.49 Gy) although some overlap in response is observed. Experiments designed to maximize differences in survival by allowing a period for the repair of potentially lethal damage (PLD) showed that only one out of five AT heterozygotes was defective in the repair of PLD. This technique does not, therefore, permit an improved discrimination of AT heterozygotes. Two AT heterozygotes were tested for their ability to repair lesions that give rise to micronuclei. Both, like the homozygote, were seen to be defective in this capacity. Defects in the repair of chromosome damage may permit a cellular discrimination of the heterozygotes.</p>","PeriodicalId":77744,"journal":{"name":"Kroc Foundation series","volume":"19 ","pages":"101-9"},"PeriodicalIF":0.0,"publicationDate":"1985-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14979745","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
Cellular and molecular studies on ataxia-telangiectasia lymphoblastoid cell lines. 共济失调-毛细血管扩张淋巴母细胞样细胞系的细胞和分子研究。
Kroc Foundation series Pub Date : 1985-01-01
M Fiorilli, M Crescenzi, M Carbonari, G Russo, L Businco, F Aiuti
{"title":"Cellular and molecular studies on ataxia-telangiectasia lymphoblastoid cell lines.","authors":"M Fiorilli,&nbsp;M Crescenzi,&nbsp;M Carbonari,&nbsp;G Russo,&nbsp;L Businco,&nbsp;F Aiuti","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>We have examined several AT-related lesions in lymphoblastoid cell lines (LCLs) derived from AT patients. Diminished sensitivity to gamma-irradiation was found in six of seven AT-LCLs. A seventh line, from a patient with apparently normal T-cell immunity, responded normally following radiation. Constitutive proteins from exponentially growing AT-LCLs were assessed by SDS-PAGE analysis and did not differ significantly from normals. IgM synthesis was also normal except for one AT-LCL that contained native IgM molecules of different sizes, corresponding to the presence of pentamers and oligomers. Analysis under reducing conditions showed normal-sized secretory mu-chains. Finally, we examined mRNAs corresponding to two oncogenes, c-myc and c-myb, in AT and normal LCLs and found marked overproduction of c-myc in one AT-LCL (ie,, ATL6). The latter findings suggest that AT cells might be prone to aberrantly express cellular oncogenes as a result of chromosomal instability and consequent transposition of oncogenes.</p>","PeriodicalId":77744,"journal":{"name":"Kroc Foundation series","volume":"19 ","pages":"301-8"},"PeriodicalIF":0.0,"publicationDate":"1985-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14992986","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
Ataxia-telangiectasia breakpoints in chromosome rearrangements reflect genes important to T and B lymphocytes. 染色体重排中的共济失调-毛细血管扩张断点反映了对T和B淋巴细胞重要的基因。
Kroc Foundation series Pub Date : 1985-01-01
F Hecht, B K Hecht
{"title":"Ataxia-telangiectasia breakpoints in chromosome rearrangements reflect genes important to T and B lymphocytes.","authors":"F Hecht,&nbsp;B K Hecht","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The AT cell fails to pause sufficiently after X-ray or similar radiomimetic insults to repair damage. Rather, it launches with undue speed into DNA replication. It may incorporate errors into DNA that lead to the chromatid and chromosome breaks. Breakpoints have been noted at 7p13, 7q33-35, 14q11-12, and 14q32. The regions at 7q33-35, and 14q11-12 are specific to T cells and include T cell receptor genes. The region at 14q11-12 is involved in T-cell malignancies. The region at 14q32 contains immunoglobulin heavy-chain genes and is involved in B-cell malignancies.</p>","PeriodicalId":77744,"journal":{"name":"Kroc Foundation series","volume":"19 ","pages":"189-95"},"PeriodicalIF":0.0,"publicationDate":"1985-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"15047814","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
Neoplasia and chromosomal breakage in ataxia-telangiectasia: a 2:14 translocation. 共济失调-毛细血管扩张的肿瘤和染色体断裂:2:14易位。
Kroc Foundation series Pub Date : 1985-01-01
M M Davis, R A Gatti, R S Sparkes
{"title":"Neoplasia and chromosomal breakage in ataxia-telangiectasia: a 2:14 translocation.","authors":"M M Davis,&nbsp;R A Gatti,&nbsp;R S Sparkes","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Four common sites of chromosome breakage have been observed in patients with ataxia-telangiectasia (AT): 7p14, 7q35, 14q11.2, and 14q32. These sites appear to coincide with the location of genes for the T-cell receptor subunits (alpha, beta, and gamma) and IGH. Each of these genes involves rearrangements of DNA for its expression, suggesting that an abnormal DNA processing enzyme or family of enzymes underlies this propensity for chromosomal breakage in AT patients. Such a defect could also explain the radiation hypersensitivity of AT fibroblasts. In view of these findings, it is perhaps surprising that AT patients do not manifest more severe immunological defects although they would explain the lack of uniformity of these defects from one patient to the next. Two other genes utilize DNA rearrangement, IGK (on chromosome 2p12) and IGL (on chromosome 22q11), and have not been noted previously to be involved in translocations in these patients. We report here a 2:14 translocation (p14:q32) in a phytohemagglutinin-stimulated lymphocyte from a patient with AT.</p>","PeriodicalId":77744,"journal":{"name":"Kroc Foundation series","volume":"19 ","pages":"197-203"},"PeriodicalIF":0.0,"publicationDate":"1985-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"15047815","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
Chromosomal localization, structure, and expression of the human alpha-fetoprotein gene. 人甲胎蛋白基因的染色体定位、结构和表达。
Kroc Foundation series Pub Date : 1985-01-01
A Dugaiczyk, M E Harper, P P Minghetti
{"title":"Chromosomal localization, structure, and expression of the human alpha-fetoprotein gene.","authors":"A Dugaiczyk,&nbsp;M E Harper,&nbsp;P P Minghetti","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>By in situ hybridization of cloned human alpha-fetoprotein cDNA to human mitotic chromosome preparations, the alpha-fetoprotein gene was localized within the q11-22 region on the long arm of human chromosome 4. In addition, the human alpha-fetoprotein gene was isolated from a genomic phage library. The gene is split into 15 exons and 14 introns, and the entire structure is contained within two large (9.5 and 9.0) and two small (0.3 and 0.25 kb) EcoRI fragments of contiguous chromosomal DNA. The structure of alpha-fetoprotein and its gene is very similar to the corresponding structures of serum albumin, indicating a common evolutionary origin of these two serum proteins. However, the two genes are differentially expressed during normal development and under certain pathological conditions such as hepatomas, germ-cell tumors, or ataxia-telangiectasia. The molecular basis of this differential gene expression remains to be understood.</p>","PeriodicalId":77744,"journal":{"name":"Kroc Foundation series","volume":"19 ","pages":"181-8"},"PeriodicalIF":0.0,"publicationDate":"1985-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13563103","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
Lymphocyte subpopulations in ataxia-telangiectasia. 共济失调-毛细血管扩张的淋巴细胞亚群。
Kroc Foundation series Pub Date : 1985-01-01
M Weaver, R A Gatti
{"title":"Lymphocyte subpopulations in ataxia-telangiectasia.","authors":"M Weaver,&nbsp;R A Gatti","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Peripheral blood lymphocyte subsets were analyzed in nine patients with ataxia-telangiectasia (AT) and their immediate family members. Absolute lymphocyte numbers were slightly low. T-helper/inducer cell, as well as B-cell, percentages were comparable to normal in patients with AT. The percentage of T-suppressor/cytotoxic cells was decreased in five of nine patients. The percentage of large granular lymphocytes was elevated in three patients. No generalities consistent with a disease hypothesis could be made on the basis of lymphocyte subpopulation data.</p>","PeriodicalId":77744,"journal":{"name":"Kroc Foundation series","volume":"19 ","pages":"309-14"},"PeriodicalIF":0.0,"publicationDate":"1985-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14069696","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
Considerations affecting the feasibility of mapping a single-gene disorder using restriction fragment polymorphisms, with special reference to ataxia-telangiectasia. 影响利用限制性片段多态性定位单基因疾病可行性的考虑因素，特别涉及共济失调-毛细血管扩张。
Kroc Foundation series Pub Date : 1985-01-01
D Botstein
{"title":"Considerations affecting the feasibility of mapping a single-gene disorder using restriction fragment polymorphisms, with special reference to ataxia-telangiectasia.","authors":"D Botstein","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":77744,"journal":{"name":"Kroc Foundation series","volume":"19 ","pages":"125-31"},"PeriodicalIF":0.0,"publicationDate":"1985-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14979747","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
Cerebellar pathology in ataxia-telangiectasia: the significance of basket cells. 小脑共济失调毛细血管扩张的病理:篮状细胞的意义。
Kroc Foundation series Pub Date : 1985-01-01
R A Gatti, H V Vinters
{"title":"Cerebellar pathology in ataxia-telangiectasia: the significance of basket cells.","authors":"R A Gatti,&nbsp;H V Vinters","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The unique neuropathology of AT is discussed, focusing on changes in the cerebellum--site of the most consistent and severe findings. In the cerebellum, despite marked Purkinje cell and granule cell loss and thinning of the molecular layer, the basket cells are relatively preserved, as demonstrated by the Bielschowsky staining. To document that basket cells do, indeed, represent a \"footprint\" of where Purkinje cells once existed, we examined the cerebellum of patients with chronic alcohol abuse. We again found normal numbers of \"empty\" basket cells. This suggests that AT is a degenerative condition in which the Purkinje cell layer forms, perhaps abnormally, but then undergoes neuronal depletion.</p>","PeriodicalId":77744,"journal":{"name":"Kroc Foundation series","volume":"19 ","pages":"225-32"},"PeriodicalIF":0.0,"publicationDate":"1985-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14979750","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
An attempt to transfer radiation resistance to an ataxia-telangiectasia cell line. 试图将辐射抗性转移到共济失调毛细血管扩张细胞系。
Kroc Foundation series Pub Date : 1985-01-01
M H Green, J E Lowe, M R James, C F Arlett
{"title":"An attempt to transfer radiation resistance to an ataxia-telangiectasia cell line.","authors":"M H Green,&nbsp;J E Lowe,&nbsp;M R James,&nbsp;C F Arlett","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Fibroblasts from ataxia-telangiectasia (AT) are hypersensitive to the lethal effects of ionizing radiation. Genomic DNA from normal human cells was transfected together with the selectable bacterial marker, gpt, on plasmid pSV2 into an SV40-transformed AT line, AT5BIVA. One radiation resistant clone (67) was recovered following repeated cycles of gamma-irradiation from a population of 90,000 clones. The normal level of radiation resistance has been maintained for at least 11 months in the absence of further selection by radiation. The resistant clone is not a contaminant as determined by isoenzyme analysis, carries one copy of the gpt gene, and its DNA synthesis is inhibited after radiation to an extent intermediate between that of AT and normal cells. It is not yet established whether clone 67 is a bona fide transformant or arose as a consequence of mutation of the parent AT line.</p>","PeriodicalId":77744,"journal":{"name":"Kroc Foundation series","volume":"19 ","pages":"173-9"},"PeriodicalIF":0.0,"publicationDate":"1985-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14132590","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
Genetics and epidemiology of ataxia-telangiectasia. 共济失调-毛细血管扩张的遗传学和流行病学。
Kroc Foundation series Pub Date : 1985-01-01
M Swift
{"title":"Genetics and epidemiology of ataxia-telangiectasia.","authors":"M Swift","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>According to the Hardy-Weinberg principle, the frequency in the general population of heterozygous carriers of a gene causing an autosomal recessive syndrome in homozygotes is likely to be between 0.1% and 5%. It is thus important to know whether carriers of the AT gene have a risk of cancer or diabetes greater than comparable noncarriers. A retrospective study of blood relatives in 26 AT families, and follow-up of the obligatory heterozygotes in those families, demonstrated an excess of diabetes, deaths from cancer, and deaths from ischemic heart disease among obligatory or probable AT heterozygotes. Hypotheses about the disease-predisposing effects of the AT gene in the heterozygote are now being reexamined, retrospectively and prospectively, in almost 150 newly identified AT families. Specific tests for the AT gene will permit even more rigorous tests of these hypotheses.</p>","PeriodicalId":77744,"journal":{"name":"Kroc Foundation series","volume":"19 ","pages":"133-46"},"PeriodicalIF":0.0,"publicationDate":"1985-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14979748","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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