scholarly journals FunctionalPMS2hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination event

2010 ◽  
pp. n/a-n/a ◽  
Author(s):  
Christina Ganster ◽  
Annekatrin Wernstedt ◽  
Hildegard Kehrer-Sawatzki ◽  
Ludwine Messiaen ◽  
Konrad Schmidt ◽  
...  
Keyword(s):  
Recombination Event ◽  
Missense Variant ◽  
Intrachromosomal Recombination ◽  
Trace Back

scholarly journals Reciprocality of recombination events that rearrange the chromosome.

Genetics ◽  
1988 ◽  
Vol 120 (1) ◽  
pp. 23-35
Author(s):  
M J Mahan ◽  
J R Roth
Keyword(s):  
Recombination Event ◽  
Genetic System ◽  
Bacterial Chromosome ◽  
Direct Repeats ◽  
Intrachromosomal Recombination ◽  
Different Types ◽  
Chromosomal Recombination

Abstract We describe a genetic system for studying the reciprocality of chromosomal recombination; all substrates and recombination functions involved are provided exclusively by the bacterial chromosome. The genetic system allows the recovery of both recombinant products from a single recombination event. The system was used to demonstrate the full reciprocality of three different types of recombination events: (1) intrachromosomal recombination between direct repeats, causing deletions; (2) intrachromosomal recombination between inverse homologies, causing inversion of a segment of the bacterial chromosome; and (3) circle to circle recombination (in the absence of any plasmid or phage functions). Results suggest that intrachromosomal recombination in bacteria is frequently fully reciprocal.

scholarly journals Different types of recombination events are controlled by the RAD1 and RAD52 genes of Saccharomyces cerevisiae.

Genetics ◽  
1988 ◽  
Vol 120 (2) ◽  
pp. 367-377
Author(s):  
H L Klein
Keyword(s):  
Saccharomyces Cerevisiae ◽  
Gene Conversion ◽  
Recombination Event ◽  
Repeated Sequences ◽  
Direct Repeats ◽  
Intrachromosomal Recombination ◽  
Sister Chromatids ◽  
Different Types ◽  
Gene Conversions

Abstract Intrachromosomal recombination within heteroallelic duplications located on chromosomes III and XV of Saccharomyces cerevisiae has been examined. Both possible orientations of alleles have been used in each duplication. Three recombinant classes, gene conversions, pop-outs and triplications, were recovered. Some of the recombinant classes were not anticipated from the particular allele orientation of the duplication. Recovery of these unexpected recombinants requires the RAD1 gene. These studies show that RAD1 has a role in recombination between repeated sequences, and that the recombination event is a gene conversion associated with a crossover. These events appear to involve very localized conversion of a heteroduplex region and are distinct from RAD52 mediated gene conversion events. Evidence is also presented to suggest that most recombination events between direct repeats are intrachromatid, not between sister chromatids.

MBAH HENDRO KUSUMO BIN SYECH AHMAD MUTAMAKKIN: JEJAK SYIAR ISLAM DI WILAYAH PATI

EMPIRISMA ◽  
2008 ◽  
Vol 27 (2) ◽  
Author(s):  
Fathimatuz Zahra Dan Abdul Azis
Keyword(s):  
Central Region ◽  
Marital Relationship ◽  
Southern Region ◽  
North Coast ◽  
The North ◽  
Trace Back ◽  
Northern Regions ◽  
The One

Pati is a region on the north coast, according to the hypothesis of the researcher, the region is divided into three categories. The northern regions are more religious, the central is more plural, while the southern region is in the middle. In the central region there are many relics of tombs believed to be the those of the Muslim proselytizers in the area of Pati. The one that attracts the researcher is a tomb in the Gambiran area, where there are five local Muslim saints buried, one of them belons to mbah Hendro Kusumo, the son of Syech Ahmad Mutamakkin. This article attempts to trace back the spreading of Islam in Pati based on the existence of thetomb of Mbah Hendro Kusumo. It wants to answer question of whethere the existence of his tomb is due to his studying there or marital relationship, and how it relates to the spreading of Islam.Keywords: Mbah Hendro Kusumo, Traces of Islamic Dakwah, Islam

The Thanatosis of Enlightenment

2019 ◽  
Vol 29 (4) ◽  
pp. 83-106
Keyword(s):  
Scientific Reasoning ◽  
Phenomenological Theory ◽  
Human Mind ◽  
Unsuccessful Attempt ◽  
Trace Back ◽  
Methodological Errors ◽  
Psychological Models ◽  
History Of ◽  
Living Nature ◽  
Dialectic Of Enlightenment

The article analyzes methodological errors Theodore Adorno and Max Horkheimer’s Dialectic of Enlightenment, particularly their incorrect use of the concepts of mimicry and mimesis. The author of the article maintains that the leaders of the Frankfurt School made a mistake that threatens to undermine their argument when they juxtaposed mimesis and the attraction to death, which has led philosophers to trace back to mimesis the desire for destruction that is found in a civilization constructed by instrumental reasoning. The author reviews the arguments of the Dialectic of Enlightenment and emphasizes the unsuccessful attempt to fuse Freudian and Hegelian methods, which exposes the instability of opposing scientific reasoning to “living” nature. Some amusing quotations from Roger Caillois, who refused to think of mimesis as something entirely rational, are also brought to bear. As Brassier gradually unfolds Adorno and Horkheimer’s thesis, he indicates the consequences of their mistake, which confined thinkers to the bucolic dungeon of “remembering” the authentic nature that they cannot abandon because they have denied themselves access to both reductionist psychological models and to phenomenological theory as such. Brassier delineates the boundaries of this trap and notes the excessive attachment of the Dialectic of Enlightenment to the human. Brassier goes on to describe the prospects for a civilization of enlightenment: a mimesis of death in both senses (death imitates and is imitated) finds its highest expression in the technological automation of the intellect, which for Adorno and Horkheimer means the final implementation of the self-destructive mind. However, for Brassier it means the rewriting of the history of reason in space. This topological rewriting of history, carried out through an enlightenment, reestablishes the dynamics of horror more than mythical temporality: it will become clear that the human mind appears as the dream of a mimetic insect.

scholarly journals Targeted sequencing identifies a missense variant in the BEST3 gene associated with antihypertensive response to hydrochlorothiazide

2018 ◽  
Vol 28 (11) ◽  
pp. 251-255 ◽  
Author(s):  
Sonal Singh ◽  
Zhiying Wang ◽  
Mohamed H. Shahin ◽  
Taimour Y. Langaee ◽  
Yan Gong ◽  
...  
Keyword(s):  
Missense Variant ◽  
Targeted Sequencing ◽  
Antihypertensive Response

scholarly journals L2HGDH Missense Variant in a Cat with L-2-Hydroxyglutaric Aciduria

Genes ◽  
2021 ◽  
Vol 12 (5) ◽  
pp. 682
Author(s):  
Matthias Christen ◽  
Nils Janzen ◽  
Anne Fraser ◽  
Adrian C. Sewell ◽  
Vidhya Jagannathan ◽  
...  
Keyword(s):  
Current Knowledge ◽  
Genetic Defect ◽  
Clinical Signs ◽  
Missense Variant ◽  
Microcytic Anemia ◽  
Abnormal Behavior ◽  
Functional Candidate Gene ◽  
History Of ◽  
The Brain ◽  
Hydroxyglutaric Acid

A 7-month-old, spayed female, domestic longhair cat with L-2-hydroxyglutaric aciduria (L-2-HGA) was investigated. The aim of this study was to investigate the clinical signs, metabolic changes and underlying genetic defect. The owner of the cat reported a 4-month history of multiple paroxysmal seizure-like episodes, characterized by running around the house, often in circles, with abnormal behavior, bumping into obstacles, salivating and often urinating. The episodes were followed by a period of disorientation and inappetence. Neurological examination revealed an absent bilateral menace response. Routine blood work revealed mild microcytic anemia but biochemistry, ammonia, lactate and pre- and post-prandial bile acids were unremarkable. MRI of the brain identified multifocal, bilaterally symmetrical and T2-weighted hyperintensities within the prosencephalon, mesencephalon and metencephalon, primarily affecting the grey matter. Urinary organic acids identified highly increased levels of L-2-hydroxyglutaric acid. The cat was treated with the anticonvulsants levetiracetam and phenobarbitone and has been seizure-free for 16 months. We sequenced the genome of the affected cat and compared the data to 48 control genomes. L2HGDH, coding for L-2-hydroxyglutarate dehydrogenase, was investigated as the top functional candidate gene. This search revealed a single private protein-changing variant in the affected cat. The identified homozygous variant, XM_023255678.1:c.1301A>G, is predicted to result in an amino acid change in the L2HGDH protein, XP_023111446.1:p.His434Arg. The available clinical and biochemical data together with current knowledge about L2HGDH variants and their functional impact in humans and dogs allow us to classify the p.His434Arg variant as a causative variant for the observed neurological signs in this cat.

scholarly journals GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Lucas D. Ward ◽  
Ho-Chou Tu ◽  
Chelsea B. Quenneville ◽  
Shira Tsour ◽  
Alexander O. Flynn-Carroll ◽  
...  
Keyword(s):  
Bile Duct ◽  
Extrahepatic Bile Duct ◽  
Association Studies ◽  
Missense Variant ◽  
Deficiency Anemia ◽  
Genome Wide Association Studies ◽  
Loss Of Function ◽  
Extrahepatic Bile Duct Cancer ◽  
Hepatocellular Damage ◽  
Increased Risk

AbstractUnderstanding mechanisms of hepatocellular damage may lead to new treatments for liver disease, and genome-wide association studies (GWAS) of alanine aminotransferase (ALT) and aspartate aminotransferase (AST) serum activities have proven useful for investigating liver biology. Here we report 100 loci associating with both enzymes, using GWAS across 411,048 subjects in the UK Biobank. The rare missense variant SLC30A10 Thr95Ile (rs188273166) associates with the largest elevation of both enzymes, and this association replicates in the DiscovEHR study. SLC30A10 excretes manganese from the liver to the bile duct, and rare homozygous loss of function causes the syndrome hypermanganesemia with dystonia-1 (HMNDYT1) which involves cirrhosis. Consistent with hematological symptoms of hypermanganesemia, SLC30A10 Thr95Ile carriers have increased hematocrit and risk of iron deficiency anemia. Carriers also have increased risk of extrahepatic bile duct cancer. These results suggest that genetic variation in SLC30A10 adversely affects more individuals than patients with diagnosed HMNDYT1.

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