scholarly journals Hybrid DNA extension and reciprocal exchanges: alternative issues of an early intermediate during meiotic recombination?

Genetics ◽  
1988 ◽  
Vol 119 (2) ◽  
pp. 337-344
Author(s):  
T Langin ◽  
V Haedens ◽  
J L Rossignol
Keyword(s):  
Point Mutation ◽  
Meiotic Recombination ◽  
Point Mutations ◽  
Middle Part ◽  
The Other ◽  
High Conversion ◽  
Left Border ◽  
Mismatch Correction ◽  
The One ◽  
Hybrid Dna

Abstract Large heterologies in gene b2 strongly increase the frequencies of reciprocal exchanges on their left border, towards the high conversion end. In a previous study, we observed that heterozygous point mutations located in the high conversion end (region F) stimulate the reciprocal exchanges instigated by the large heterology 138. We have defined some properties of this stimulation. The effect does not depend on the nature of the large heterology used. It is effective only with point mutations located on the left side of the large heterology. It does not depend on the number of heterozygosities accumulated in region F. It is not specific on the location of point mutations in region F: it decreases from region F (left end) to region E (middle part of b2). It is correlated with the mismatch correction efficiencies of the point mutations used. It is not observed in the absence of a large heterology. Point mutation heterozygosities which stimulate reciprocal exchanges also decrease the frequency of HDNA formation in gene b2. We propose a model in which reciprocal exchanges on the one hand and hybrid DNA formation on the other hand correspond to alternative processings of a common recombination intermediate.

Incidence of the BCR-ABL Kinase Domain Mutations in Imatinib Treated CML Patients: Russian Experience

Blood ◽  
2011 ◽  
Vol 118 (21) ◽  
pp. 4420-4420
Author(s):  
Andrey V Misyurin ◽  
Elena N Misyurina ◽  
Alexey Krutov ◽  
Elena Aksenova ◽  
Irina Soldatova ◽  
...  
Keyword(s):  
Point Mutation ◽  
Mutation Analysis ◽  
Point Mutations ◽  
The Other ◽  
Splice Acceptor Site ◽  
Acceptor Site ◽  
Splice Acceptor ◽  
Imatinib Resistance ◽  
Total Cohort ◽  
Imatinib Resistant

Abstract Abstract 4420 In the period from 18.01.06 to 25.05.11 we have performed mutation analysis in CML pts with the obvious manifestation of resistance against imatinib. Chronic phase CML patients have been treated by imatinib and monitored by means of RQ-PCR using IS units. At first signs of the evident BCR-ABL level increase (more than 5–10% IS), the mutation analysis has been performed by means of direct PCR fragment sequencing. We have used original primers that enable to search for mutations in the area spanning from a3 to a11 ABL exons of BCR-ABL. Sequencing has been performed for 274 CML pts that were suspected to acquire imatinib resistance. Among them there were 47,45% (130/274) of females (median age 51 years, from 15 to 73), 52,55% (144/274) of males (median age 50 years, from 15 to 74). In the group of mutation negative pts (80/274 – 29,2%) the BCR-ABL level was more than 9% (IS). Interestingly, in this group there were a little bit more females than in the total cohort of pts (58,7% against 47,45%, p=0,034). The median age of the mutation negative females (51 years) was quite the same as in the total cohort, whereas the median age of mutation negative males significantly differed from the one in the total cohort (58 vs. 51 year, p=0,041). 70,8% (194/274) pts tested occurred to be mutation positive (42,8% females (83/194), 57,2% males (111/194)). 214 point mutations of 38 different types have been detected, among them T315I (26/194 – 12%), G250E (26/194 – 12%), T317L (16/194 – 7,4%), F359V (15/194 – 7,0%), H396R (15/194 – 7,0%), M244V (15/194 – 7,0%), E255K (12/194 – 5,6%), Y253H (12/194 – 5,6%), E255V (9/194 – 4,2%), L248V (8/194 – 3,7%), E355G (6/194 – 2,8%), M315T (6/194 – 2,8%), Q252H (5/194 – 2,3%), L387F (4/194 – 1,8%), S348L (4/194 – 1,8%), F311I (3/194 – 1,4%), F359C (3/194 – 1,4%), E255D (2/194 – 0,9%), E275K (2/194 – 0,9%), E279A (2/194 – 0,9%), K247R (2/194 – 0,9%), E292V (1/194 – 0,46%), E334G (1/194 – 0,46%), E450K (1/194 – 0,46%), E459A (1/194 – 0,46%), E459K (1/194 – 0,46%), F359I (1/194 – 0,46%), F486S (1/194 – 0,46%), L383F (1/194 – 0,46%), P441L (1/194 – 0,46%), Q252M (1/194 – 0,46%), Q491L (1/194 – 0,46%), T305I (1/194 – 0,46%), T345I (1/194 – 0,46%), V299A (1/194 – 0,46%), Y312C (1/194 – 0,46%), T520S (1/194 – 0,46%). As rare events we have observed some other types of mutations. In one CML patient with primary imatinib resistance there was a G425Stop (1/194 – 0,46%) mutation which caused a significant truncation of the C-end of the BCR-ABL protein. There were also 2 highly imatinib resistant pts with deletions of exon a7 ABL (2/194 – 0,9%). One more unusual mutation was an insertion of 72 bp between the a8 and a9 exons of ABL. The origin of this insertion was a middle part of the 8th intron of the ABL gene. This sequence is arranged as a typical human exon because it is flanked by donor and acceptor splicing signals. We found this mutation in 3 imatinib resistant CML pts (3/194 – 1,4%). This mutation gives rise to the abnormal stop-codon within the exon a9 due to a CD’s frameshift. In all pts with point L248V mutation (8/194 – 3,7%) we have also observed additional abnormal variant of BCR-ABL gene as a splicing isoform lacking 81 bp of exon a4. The point mutation L248V (742C>G) exchange the motif CAAGCT for CAAGGT and the latter is a strong splice acceptor site. It seems that this cryptic splice acceptor site in the middle of 4a exon carrying 742C>G point mutation may compete with natural splice acceptor site from 4th intron. It gives rise to two BCR-ABL transcripts: one carrying a point mutation and the other one with 81 bp’s deletion of the 3’end of exon 4a, without frameshift. These findings suggest that in the case of mutational analysis the considerable attention should be paid not only to BCR-ABL point mutations but also to the possible emergence of the other changes of the BCR-ABL mRNA structure which may occur due to arbitrary activity of splicing machinery. Our findings also suggest that among imatinib resistant CML pts some of them already acquired mutations that prevented adequate response for the 2nd generation of TKI. In our study 12% of BCR-ABL mutation positive CML pts resistant to imatinib (n=26/194) had T315I which also render nilotinib and dasatinib resistance. 23,8% (n=51/194) were positive for mutations that decreases nilotinib response (E255K/V, F359C/V, Y253H) and 7,5% (n=16/194) were positive for T317L that hinders dasatinib response. Disclosures: No relevant conflicts of interest to declare.

Molecular analysis of the RET proto-oncogene in patients with sporadic medullary thyroid carcinoma: a novel point mutation in the extracellular cysteine-rich domain

1997 ◽  
Vol 136 (4) ◽  
pp. 423-426 ◽  
Author(s):  
Maria João Bugalho ◽  
João Pedro Frade ◽  
Jorge Rosa Santos ◽  
Edward Limbert ◽  
Luis Sobrinho
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Point Mutation ◽  
De Novo ◽  
Point Mutations ◽  
The Other ◽  
Missense Mutations ◽  
Sporadic Medullary Thyroid Carcinoma ◽  
Medullary Thyroid ◽  
Rich Domain

Abstract Germline point mutations in the RET proto-oncogene are associated with multiple endocrine neoplasia type 2 (2A and 2B) and familial medullary thyroid carcinoma. On the other hand, somatic point mutations of RET have been described in a subset of sporadic medullary thyroid carcinomas (MTCs). We examined tumor and blood DNA of thirteen apparently sporadic MTC patients for mutations in RET exons 10, 11, 13, 15 and 16 to determine whether they had true sporadic tumors or either de novo or occult germline mutations. Three different somatic missense mutations were documented in seven patients. In five patients a mutation in exon 16, codon 918, (ATG→ACG) causing a Met→Thr substitution was found. In the remaining two patients the mutation affected exon 11: codon 630 in one case and codon 634 in the other. In both cases a T→C transversion was identified causing a Cys→Arg substitution. In conclusion, absence of a germline mutation in RETexons 10, 11, 13 or 16 is evidence against an inherited form in all cases. In seven patients, identification of a somatic mutation supported the previous clinical diagnosis of sporadic medullary thyroid carcinoma; in one of them we identified a hitherto undescribed somatic point mutation at codon 630. European Journal of Endocrinology 136 42 3–426

scholarly journals Friedreich’s Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases

2018 ◽  
Vol 2018 ◽  
pp. 1-5
Author(s):  
Vamshi K. Rao ◽  
Christine J. DiDonato ◽  
Paul D. Larsen
Keyword(s):  
Point Mutation ◽  
Nonsense Mutation ◽  
Point Mutations ◽  
Friedreich’S Ataxia ◽  
Repeat Expansion ◽  
Friedreich's Ataxia ◽  
The Other ◽  
Compound Heterozygous ◽  
Compound Heterozygosity ◽  
Nonsense Mutations

Friedreich’s ataxia is a neurodegenerative disorder associated with a GAA trinucleotide repeat expansion in intron 1 of the frataxin (FXN) gene. It is the most common autosomal recessive cerebellar ataxia, with a mean age of onset at 16 years. Nearly 95-98% of patients are homozygous for a 90-1300 GAA repeat expansion with only 2-5% demonstrating compound heterozygosity. Compound heterozygous individuals have a repeat expansion in one allele and a point mutation/deletion/insertion in the other. Compound heterozygosity and point mutations are very rare causes of Friedreich’s ataxia and nonsense mutations are a further rarity among point mutations. We report a rare compound heterozygous Friedrich’s ataxia patient who was found to have one expanded GAA FXN allele and a nonsense point mutation in the other. We summarize the four previously published cases of nonsense mutations and compare the phenotype to that of our patient. We compared clinical information from our patient with other nonsense FXN mutations reported in the literature. This nonsense mutation, to our knowledge, has only been described once previously; interestingly the individual was also of Cuban ancestry. A comparison with previously published cases of nonsense mutations demonstrates some common clinical characteristics.

scholarly journals Experiments on the influence of magnetism on polarized light

1851 ◽  
Vol 5 ◽  
pp. 741-742
Keyword(s):  
Polarized Light ◽  
Middle Part ◽  
The Other ◽  
Current Pass ◽  
Magnetic Action ◽  
Pass Through ◽  
The One ◽  
The Right ◽  
Academy Of Sciences ◽  
Contrary Direction

The object of this notice is to communicate some recent experi­ments on diamagnetism, and particularly on the influence of mag­netism on polarized light. The following extracts are in the words of the author :— The apparatus I employed in these experiments was an electro­magnetic apparatus invented by M.Rumkorf, and described by M.Biot at a meeting of the Academy of Sciences of Paris, and consisting of a powerful electro-magnet, of which the soft iron cylinder is traversed by a hole in the direction of the length of the axis, through which hole the ray of polarized light is made to pass; and the voltaic cur­rent which I employed on this occasion was that of seven pair of Grove’s construction. I made my first experiment with a piece of heavy glass, which I received from Faraday himself. In order to assure myself of the exact amount of rotation induced by magnetic action, I caused the ray of light, before it reached the heavy glass , to pass through the system invented by M. Soleil, consisting of two equal plates of perpendicular quartz, placed side by side; the one turning to the right, the other to the left. I ascertained, first of all, the rotation produced by making the current pass sometimes in one direction, and sometimes in the other ; the two rotations, one to the right, the other to the left, thus produced, were exactly the same. Then I compressed slightly the middle part of the piece of heavy glass, in the same manner as one compresses pieces of glass. I was then obliged to turn the eyepiece in a certain direction in order to restore the image to its first condition; in my experiments I always had to turn it, after compression, towards the right. I next made the current pass, first in one direction, then in the other. The ge­neral facts which I have observed constantly and without exception are the following :— The rotation produced by the magnet on the com­pressed piece of heavy glass is not the same to the right as it is to the left: the rotation produced by the magnet is considerably greater in the direction of the rotation produced by compression than it is in the contrary direction: the rotation produced by the magnet on the com­pressed heavy glass, and in the direction of the rotation produced by the compression, is greater than that produced by the same magnet on glass which has not been compressed, and the rotation in the contrary direc­tion is less. The following are the numerical results . “In one experiment I obtained on a piece of heavy glass not com­pressed, 3° of rotation to the right or to the left, according to the direction of the current: on slightly compressing the glass, I had to turn to the right the eyepiece to 4°, 5°, and even to 8° in order to restore the image to its first condition. In closing the circuit, the rotation produced in the same direction as that due to compression wras 3½° or 4°, while the rotation produced in the contrary direction was from 2° to 1½°. On ceasing to compress the glass, I obtained the same phenomena as I had observed before the compression.

scholarly journals Walthard. Bacteriologische Untersuchungen des weiblichen Genitalsecretes in Graviditate und im Puerperium. (Arch. F. Gyn., Bd., XLVIII Hft., 2). Bacteriological research of the secret of female genital tract during pregnancy and in the maternity period

2020 ◽  
Vol 9 (3) ◽  
pp. 282-283
Author(s):  
S. Y. Khazan
Keyword(s):  
Pregnant Woman ◽  
Uterine Cervix ◽  
Genital Tract ◽  
Female Genital Tract ◽  
Middle Part ◽  
The Other ◽  
Cervical Canal ◽  
Vaginal Secretion ◽  
The One ◽  
Female Genital

The contradictory opinions prevailing in the sciences regarding the use of the so-called objective antiseptics in obstetrics forced W. to discuss the controversial issue of asepticity or non-asepticity of female genital tracts, and he came to some results. The genital tract of an unexamined pregnant woman breaks up in bacteriological relation into two sections: the lower one, rich in microorganisms, and the upper one, completely free of microbes. The border between both sections is located in the middle part of the cervical canal and is caused on the one hand by constantly renewing cervical mucus, which is a poor nutrient medium for microorganisms, and on the other hand, by phagocytosis, which has a place in the lower part of the uterine cervix, due to the property of the vaginal secretion of the vagina. from the surrounding tissues.

Note on Selection of Coordinate Systems for Geodynamics

1975 ◽  
Vol 26 ◽  
pp. 395-407
Author(s):  
S. Henriksen
Keyword(s):  
Sea Level ◽  
The Other ◽  
Coordinate Systems ◽  
Mean Sea Level ◽  
The Earth ◽  
The One ◽  
Static Systems ◽  
Selection Of

The first question to be answered, in seeking coordinate systems for geodynamics, is: what is geodynamics? The answer is, of course, that geodynamics is that part of geophysics which is concerned with movements of the Earth, as opposed to geostatics which is the physics of the stationary Earth. But as far as we know, there is no stationary Earth – epur sic monere. So geodynamics is actually coextensive with geophysics, and coordinate systems suitable for the one should be suitable for the other. At the present time, there are not many coordinate systems, if any, that can be identified with a static Earth. Certainly the only coordinate of aeronomic (atmospheric) interest is the height, and this is usually either as geodynamic height or as pressure. In oceanology, the most important coordinate is depth, and this, like heights in the atmosphere, is expressed as metric depth from mean sea level, as geodynamic depth, or as pressure. Only for the earth do we find “static” systems in use, ana even here there is real question as to whether the systems are dynamic or static. So it would seem that our answer to the question, of what kind, of coordinate systems are we seeking, must be that we are looking for the same systems as are used in geophysics, and these systems are dynamic in nature already – that is, their definition involvestime.

Stories and the Self

2020 ◽  
Vol 32 (2) ◽  
pp. 47-58 ◽  
Author(s):  
Stefan Krause ◽  
Markus Appel
Keyword(s):  
Meta Analysis ◽  
The Self ◽  
The Other ◽  
Lower Degree ◽  
Contrast Effects ◽  
Self Perception ◽  
Self Perceptions ◽  
Other Hand ◽  
The One ◽  
Implicit And Explicit

Abstract. Two experiments examined the influence of stories on recipients’ self-perceptions. Extending prior theory and research, our focus was on assimilation effects (i.e., changes in self-perception in line with a protagonist’s traits) as well as on contrast effects (i.e., changes in self-perception in contrast to a protagonist’s traits). In Experiment 1 ( N = 113), implicit and explicit conscientiousness were assessed after participants read a story about either a diligent or a negligent student. Moderation analyses showed that highly transported participants and participants with lower counterarguing scores assimilate the depicted traits of a story protagonist, as indicated by explicit, self-reported conscientiousness ratings. Participants, who were more critical toward a story (i.e., higher counterarguing) and with a lower degree of transportation, showed contrast effects. In Experiment 2 ( N = 103), we manipulated transportation and counterarguing, but we could not identify an effect on participants’ self-ascribed level of conscientiousness. A mini meta-analysis across both experiments revealed significant positive overall associations between transportation and counterarguing on the one hand and story-consistent self-reported conscientiousness on the other hand.

Radioimmunotherapy for treatment of acute myeloid leukaemia and myelodysplastic syndrome

2005 ◽  
Vol 44 (03) ◽  
pp. 107-117
Author(s):  
R. G. Meyer ◽  
W. Herr ◽  
A. Helisch ◽  
P. Bartenstein ◽  
I. Buchmann
Keyword(s):  
Acute Myeloid Leukaemia ◽  
Myeloid Leukaemia ◽  
Primary Tumour ◽  
The Other ◽  
Haematopoietic Stem Cell ◽  
Other Hand ◽  
Primary Reduction ◽  
The One ◽  
Acute Myeloid

SummaryThe prognosis of patients with acute myeloid leukaemia (AML) has improved considerably by introduction of aggressive consolidation chemotherapy and haematopoietic stem cell transplantation (SCT). Nevertheless, only 20-30% of patients with AML achieve long-term diseasefree survival after SCT. The most common cause of treatment failure is relapse. Additionally, mortality rates are significantly increased by therapy-related causes such as toxicity of chemotherapy and complications of SCT. Including radioimmunotherapies in the treatment of AML and myelodyplastic syndrome (MDS) allows for the achievement of a pronounced antileukaemic effect for the reduction of relapse rates on the one hand. On the other hand, no increase of acute toxicity and later complications should be induced. These effects are important for the primary reduction of tumour cells as well as for the myeloablative conditioning before SCT.This paper provides a systematic and critical review of the currently used radionuclides and immunoconjugates for the treatment of AML and MDS and summarizes the literature on primary tumour cell reductive radioimmunotherapies on the one hand and conditioning radioimmunotherapies before SCT on the other hand.

Das Ende der Postdemokratie, den Pessimismus überwinden.

2017 ◽  
Vol 47 (188) ◽  
pp. 487-494
Author(s):  
Daniel Mullis
Keyword(s):  
Political Thought ◽  
Social Dynamics ◽  
Social Conditions ◽  
The Other ◽  
Economic Decline ◽  
Far Right ◽  
Windows Of Opportunity ◽  
Political Events ◽  
Political Struggles ◽  
The One

In recent years, political and social conditions have changed dramatically. Many analyses help to capture these dynamics. However, they produce political pessimism: on the one hand there is the image of regression and on the other, a direct link is made between socio-economic decline and the rise of the far-right. To counter these aspects, this article argues that current political events are to be understood less as ‘regression’ but rather as a moment of movement and the return of deep political struggles. Referring to Jacques Ranciere’s political thought, the current conditions can be captured as the ‘end of post-democracy’. This approach changes the perspective on current social dynamics in a productive way. It allows for an emphasis on movement and the recognition of the windows of opportunity for emancipatory struggles.

Tolerance is theoretical and practical principles

1996 ◽  
pp. 13-23
Author(s):  
Mykhailo Babiy
Keyword(s):  
Religious Diversity ◽  
The Other ◽  
Nodal Points ◽  
Characteristic Features ◽  
The One ◽  
Ukrainian Society

Political ideological pluralism, religious diversity are characteristic features of modern Ukrainian society. On the one hand, multiculturalism, socio-political, religious differentiation of the latter appear as important characteristics of its democracy, as a practical expression of freedom, on the other - as a factor that led to the deconsocialization of society, gave rise to "nodal points" of tension, confrontational processes, in particular, in political and religious spheres.

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