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11.
Dal Zotto L; Quaderi NA; Elliott R; Lingerfelter PA; Carrel L; Valsecchi V; Montini E; Yen CH; Chapman V; Kalcheva I; Arrigo G; Zuffardi O; Thomas S; Willard HF; Ballabio A; Disteche CM; Rugarli EI 《Human molecular genetics》1998,7(3):489-499
We have recently reported isolation of the gene responsible for X- linked
Opitz G/BBB syndrome, a defect of midline development. MID1 is located on
the distal short arm of the human X chromosome (Xp22. 3) and encodes a
novel member of the B box family of zinc finger proteins. We have now
cloned the murine homolog of MID1 and performed preliminary expression
studies during development. Mid1 expression in undifferentiated cells in
the central nervous, gastrointestinal and urogenital systems suggests that
abnormal cell proliferation may underlie the defect in midline development
characteristic of Opitz syndrome. We have also found that Mid1 is located
within the mouse pseudoautosomal region (PAR) in Mus musculus , while it
seems to be X- specific in Mus spretus. Therefore, Mid1 is likely to be a
recent acquisition of the M. musculus PAR. Genetic and FISH analyses also
demonstrated a high frequency of unequal crossovers in the murine PAR,
creating spontaneous deletion/duplication events involving Mid1. These data
provide evidence for the first time that genetic instability of the PAR may
affect functionally important genes. In addition, we show that MID1 is the
first example of a gene subject to X-inactivation in man while escaping it
in mouse. These data contribute to a better understanding of the molecular
content and evolution of the rodent PAR.
相似文献
12.
p53 immunoreactivity in hepatocellular adenoma, focal nodular hyperplasia, cirrhosis and hepatocellular carcinoma 总被引:2,自引:0,他引:2
I. OJANGUREN A. ARIZA E.M. CASTELLÀ A. FERNÁNDEZ-VASALO J.L. MATE J.J. NA VAS-PALACIOS 《Histopathology》1995,26(1):63-68
The prolonged half-life of mutant p53 makes feasible its immunocytochemical detection. In order to assess the pathogenetic role of mutant p53 in regenerative and neoplastc liver disease we studied its immunohistochemical expression in cases of hepatic cirrhosis, hepatocellular carcinoma (HCC), cirrhosis with areas of HCC, hepatocellular adenoma and focal nodular hyperplasia. The study included needle and wedge biopsies of 50 cirrhotic livers, 59 HCCs (36 of them with associated cirrhosis), six adenomas and two focal nodular hyperplasias. Sixty-five HCC fineneedle cytology specimens were also included in the study. There was no immunohistochemical evidence of mutant p53 expression in any of the cases of cirrhotic liver (except for one instance associated with HCC) adenoma or focal nodular hyperplasia. In contrast p53 was detected in 8.5% of HCC cases in the biopsy series and 24% of HCC cases in the fine needle aspiration series. In addition, mutant p53 expression in HCC was positively correlated with tumour grade. According to grade, the distribution of p53 positive immunoreactivity among HCCs was as follows: Grade I-II, 0% of cases in the biopsy series and 9% in the fine needle aspirates; Grade III, 18% in the biopsy series and 55% in the fine needle aspirates; and Grade IV, 40% in the biopsy series. Therefore, mutant p53 expression does not seem to be associated with benign liver lesions but seems to correlate with the progression of HCC through various grades of increasing malignancy. 相似文献
13.
Preferences towards quinine sulfate (QS) and dextrose (DEX) were tested in purelines and reciprocal crosses of two lines of chickens that had undergone 22 generations of selection for high and low juvenile body weight. Parental line-F1 comparisons provided evidence for non-additive genetic variation for hedonic sensitivity towards QS and DEX, though in opposite directions. Additive genetic variation appeared to influence the preference ratios for both stimuli at super-threshold concentrations. These results are discussed with regard to their evolutionary implications. 相似文献
14.
Schrader TJ Langlois I Soper K Cherry W 《Teratogenesis, carcinogenesis, and mutagenesis》2002,22(6):425-441
Bisphenol A (4,4'-isopropylidenediphenol) is a common component of polycarbonate plastics and epoxy resins. Since bisphenol A-containing plastics and resins have found uses in food-contact items, its potential migration into foodstuffs and possible health consequences have been the focus of many recent studies. However, the potential mutagenic activation of bisphenol A by nitrosylation has received little attention. Incubation of bisphenol A with sodium nitrite under acidic conditions produced a yellow-brown product. When nitrosylated bisphenol A was tested in the Ames Salmonella/microsome assay at 100 ng to 1 mg/plate, dose-dependent increases in mutagenicity were found in both TA98 and TA100 Salmonella strains. These results indicated the presence of a direct-acting mutagenic activity causing both frameshift and base pair mutations, respectively. When compared to colony formation in untreated controls, the addition of rat liver S9 for metabolic activation had little influence on revertant colony formation. Unreacted bisphenol A dissolved in DMSO, acidic buffer, or inactivated nitrosylation solution showed negligible mutagenicity. When the nature of the mutagenic changes was examined using the Ames II trade mark Assay, a variety of base pair changes was found including T:A to A:T - S9, G:C to A:T +/- S9,C:G to A:T +/- S9 and C:G to G:C +/- S9. Bisphenol A also induced frameshift mutations at G:C sites. In addition, the presence of electrophiles was shown by the production of an intensely coloured orange-red product upon incubation of nitrosylated bisphenol A with the nucleophile 4-(4'-nitrobenzyl)pyridine. These findings suggest that migration of bisphenol A into nitrite containing foodstuffs, or its ingestion in the presence of nitrite, could lead to the formation of mutagenic compounds. 相似文献
15.
Journal of Prevention - This paper has two goals regarding cultural rigor, defined as privileging cultural ways of knowing and being as a means to achieving health and well-being for future... 相似文献
16.
目的 分析放射工作者外周血象、淋巴细胞微核及染色体畸变情况,为放射工作者职业防护和健康监测提供依据。方法 对2015年、2017年和2019年连续3次接受健康检查的127名放射工作者进行淋巴细胞微核、染色体及血象分析,将其设为放射组。另外选取133名无射线接触史的医务人员设为对照组;结果 放射组中淋巴细胞微核率和染色体畸变率高于对照组,白细胞和血小板计数低于对照组,均具有统计学意义(P < 0.05)。127名放射工作者外周血白细胞总数随着接触电离辐射时间的增长逐渐降低,染色体畸变率逐渐增加,均具有统计学意义(P < 0.05)。损害工龄大于20年的放射工作者染色体畸变率高于低工龄组,不同损害工龄之间比较无统计学意义(P > 0.05)。核医学与介入治疗工种染色体畸变率高于其他工种,具有统计学意义(P < 0.05)。结论 长时间接触低剂量电离辐射可使放射工作者白细胞总数降低和淋巴细胞染色体畸变率增加,应加强放射工作者防护措施以备降低电离辐射损伤程度,特别要加强核医学和介入治疗放射工作人员的职业防护。 相似文献
17.
18.
Distribution of PDE4A and G(o) alpha immunoreactivity in the accessory olfactory system of the mouse
Distribution of the cAMP-specific phosphodiesterase PDE4A was examined in the accessory olfactory system by immunohistochemistry. Adjacent sections through the vomeronasal organ (VNO) and accessory olfactory bulb (AOB) were alternately immunostained with antibodies against PDE4A or the G-protein alpha subunit G(o) alpha, which labels basal VNO neurons, in order to determine whether PDE4A occurs preferentially in one of two segregated VNO pathways. We found that PDE4A strongly labeled apical VNO neurons and rostral AOB glomeruli. There was virtually no overlap in G(o) alpha and PDE4A staining, and there were no regions of the VNO neuroepithelium or AOB glomeruli not labeled by either antibody. These results identify a potential member of the pheromone transduction cascade in apical neurons, and provide further evidence that the VNO consists of functionally distinct pathways. 相似文献
19.
20.
Relationship of pertussis immunization to the onset of neurologic disorders: a retrospective epidemiologic study 总被引:1,自引:0,他引:1
W D Shields C Nielsen D Buch V Jacobsen P Christenson B Zachau-Christiansen J D Cherry 《The Journal of pediatrics》1988,113(5):801-805
A retrospective epidemiologic study examining the relationship of the time of onset of neurologic disorders with the time of pertussis immunization in two cohorts of children who received pertussis immunization at different ages is reported. Before April 1970, children in Denmark were vaccinated with diphtheria and tetanus toxoids with pertussis vaccine at 5, 6, 7, and 15 months of age. Since 1970, children were given monovalent pertussis vaccine at 5 and 9 weeks and at 10 months of age. A total of 554 cases of epilepsy with onset between 28 days and 24 months of age were reviewed, 286 from the 1967-1968 period and 268 from the 1972-1973 period. There was no relationship between the age of onset of epilepsy and the scheduled age of administration of pertussis vaccine. A total of 2199 children with febrile seizures were reviewed, 830 from the 1967-1968 period and 1369 from the 1972-1973 period. There was a statistical association between first febrile seizures and the scheduled age of administration of pertussis vaccine (p = 0.004). No relationship between pertussis immunization and the occurrence of central nervous system infections was noted. 相似文献