scholarly journals A Large Genomic Deletion in Gibberella zeae Causes a Defect in the Production of Two Polyketides but not in Sexual Development or Virulence

2006 ◽  
Vol 22 (3) ◽  
pp. 215-221 ◽  
Author(s):  
Sun-Hee Lee ◽  
Hee-Kyoung Kim ◽  
Sae-Yeon Hong ◽  
Yin-Won Lee ◽  
Sung-Hwan Yun
Keyword(s):  
Sexual Development ◽  
Gibberella Zeae ◽  
Genomic Deletion ◽  
Large Genomic Deletion

A novel common large genomic deletion and two new missense mutations identified in the Romanian phenylketonuria population

Gene ◽  
2016 ◽  
Vol 576 (1) ◽  
pp. 182-188 ◽  
Author(s):  
Corinne Gemperle-Britschgi ◽  
Daniela Iorgulescu ◽  
Monica Alina Mager ◽  
Dana Anton-Paduraru ◽  
Romana Vulturar ◽  
...  
Keyword(s):  
Missense Mutations ◽  
Genomic Deletion ◽  
Large Genomic Deletion

scholarly journals A Highly Efficient CRISPR-Cas9-Mediated Large Genomic Deletion in Bacillus subtilis

2017 ◽  
Vol 8 ◽  
Author(s):  
Younju So ◽  
Soo-Young Park ◽  
Eun-Hye Park ◽  
Seung-Hwan Park ◽  
Eui-Joong Kim ◽  
...  
Keyword(s):  
Bacillus Subtilis ◽  
Genomic Deletion ◽  
Large Genomic Deletion ◽  
Highly Efficient

scholarly journals Early-onset diffuse gastric cancer associated with a de novo large genomic deletion of CDH1 gene

2013 ◽  
Vol 17 (4) ◽  
pp. 745-749 ◽  
Author(s):  
Shinya Sugimoto ◽  
Hidetaka Yamada ◽  
Masazumi Takahashi ◽  
Yuichi Morohoshi ◽  
Naotaka Yamaguchi ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Early Onset ◽  
De Novo ◽  
Diffuse Gastric Cancer ◽  
Cdh1 Gene ◽  
Genomic Deletion ◽  
Large Genomic Deletion

Molecular genetic testing for large genomic deletion and duplication mutations in the BRCA1 and BRCA2 genes for hereditary breast and ovarian cancer

2007 ◽  
Vol 25 (18_suppl) ◽  
pp. 10513-10513
Author(s):  
R. Wenstrup ◽  
T. Judkins ◽  
K. Eliason ◽  
J. Schoenberger ◽  
S. Rajamani ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Family History ◽  
Superior Performance ◽  
Brca1 And Brca2 ◽  
Large Rearrangement ◽  
Genomic Deletion ◽  
Large Genomic Deletion ◽  
Panel Testing ◽  
Brca1 And Brca2 Genes ◽  
Risk Patients

10513 Background: Mutations in the BRCA1 and BRCA2 genes are comprised of a majority of mutations that are detectable by sequence analysis, and a minority of large genomic deletion and duplication mutations that are detected by methods different than sequencing. Our laboratory developed and implemented a clinical assay for large rearrangements that we refer to as BART (BRCA1/2 Rearrangement Test). We validated the performance of BART using a completely anonymous large number of breast/ovarian cancer patient samples. We also demonstrated superior performance of BART versus other dosage-sensitive methods including Multiplex Ligation-dependent Probe Amplification (MLPA). Methods: BART utilizes quantitative endpoint polymerase chain reaction (PCR) in a multiplexed fluorescent format. Eleven multiplex PCR reactions were designed to contain two amplicons targeting the promoter region, all coding exons, and flanking regions of BRCA1 and BRCA2. An automated likelihood-based analysis application normalizes target amplicon copy number between BRCA1, BRCA2 and three control genes. Deletions and duplications are identified with a statistical confidence level. Results: Based on clinical and family history criteria, 1,035 patients were identified as severe-risk during the initial months of clinical BART analysis at Myriad Genetic Laboratories. All patients were initially tested for Comprehensive BRACAnalysis which includes BRCA1 and BRCA2 full gene sequencing plus large rearrangement panel testing for 5 recurrent BRCA1 mutations. Among severe-risk patients, 302 (29.2%) were positive for a BRCA1 or BRCA2 mutation by sequencing, 9 (0.9%) were positive by large rearrangement panel testing and an additional 27(2.6%) tested positive by BART for large genomic rearrangements. The total detection rate for deleterious mutations in severe-risk individuals was therefore 32.7%. Conclusions: Our initial clinical data indicate that BART testing is appropriate for high-risk patients identified on the basis of personal and family history criteria. No significant financial relationships to disclose.

scholarly journals A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

2015 ◽  
Vol 24 (11) ◽  
pp. 3143-3154 ◽  
Author(s):  
Elisa Giorgio ◽  
Daniel Robyr ◽  
Malte Spielmann ◽  
Enza Ferrero ◽  
Eleonora Di Gregorio ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Adult Onset ◽  
Genomic Deletion ◽  
Large Genomic Deletion ◽  
Lamin B1 ◽  
B1 Gene

scholarly journals Functional Analyses of Two Acetyl Coenzyme A Synthetases in the Ascomycete Gibberella zeae

2011 ◽  
Vol 10 (8) ◽  
pp. 1043-1052 ◽  
Author(s):  
Seunghoon Lee ◽  
Hokyoung Son ◽  
Jungkwan Lee ◽  
Kyunghun Min ◽  
Gyung Ja Choi ◽  
...  
Keyword(s):  
Sexual Development ◽  
Coenzyme A ◽  
Lipid Synthesis ◽  
Gibberella Zeae ◽  
Atp Citrate Lyase ◽  
Acetyl Coa ◽  
Acetyl Coenzyme A ◽  
Content Type ◽  
Temporal Precision ◽  
Acetyl Coenzyme

ABSTRACTAcetyl coenzyme A (acetyl-CoA) is a crucial metabolite for energy metabolism and biosynthetic pathways and is produced in various cellular compartments with spatial and temporal precision. Our previous study on ATP citrate lyase (ACL) inGibberella zeaerevealed that ACL-dependent acetyl-CoA production is important for histone acetylation, especially in sexual development, but is not involved in lipid synthesis. In this study, we deleted additional acetyl-CoA synthetic genes, the acetyl-CoA synthetases (ACSgenesACS1andACS2), to identify alternative acetyl-CoA production mechanisms for ACL. TheACS1deletion resulted in a defect in sexual development that was mainly due to a reduction in 1-palmitoyl-2-oleoyl-3-linoleoyl-rac-glycerol production, which is required for perithecium development and maturation. Another ACS coding gene,ACS2, has accessorial functions forACS1and has compensatory functions forACLas a nuclear acetyl-CoA producer. This study showed that acetate is readily generated during the entire life cycle ofG. zeaeand has a pivotal role in fungal metabolism. Because ACSs are components of the pyruvate-acetaldehyde-acetate pathway, this fermentation process might have crucial roles in various physiological processes for filamentous fungi.

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