Regulation of MAL gene expression in yeast: Gene dosage effects

1987 ◽  
Vol 209 (3) ◽  
pp. 508-517 ◽  
Author(s):  
Michael J. Goldenthal ◽  
Marco Vanoni ◽  
Barbara Buchferer ◽  
Julius Marmur
Keyword(s):  
Gene Expression ◽  
Gene Dosage ◽  
Yeast Gene ◽  
Gene Dosage Effects ◽  
Dosage Effects

Reflections on studies of gene expression in aneuploids

2010 ◽  
Vol 426 (2) ◽  
pp. 119-123 ◽  
Author(s):  
James A. Birchler
Keyword(s):  
Gene Expression ◽  
Copy Number ◽  
Gene Dosage ◽  
Gene Dosage Effects ◽  
Dosage Effects ◽  
Different Types ◽  
Chromosomal Copy Number ◽  
Cancerous Cells ◽  
Insight Into ◽  
Careful Documentation

Aneuploidy involves changes in chromosomal copy number compared with normal euploid genotypes. Studies of gene expression in aneuploids in a variety of species have claimed many different types of responses. Studies of individual genes suggest that there are both structural gene dosage effects and compensation in aneuploids, and that subtle trans-acting effects across the genome are quite prevalent. A discussion is presented concerning the normalization procedures for studying gene expression in aneuploids. A careful documentation of the modulations of gene expression in aneuploids should provide insight into the nature of cancerous cells and the basis of aneuploid syndromes.

Gene Dosage Effects in B-Chronic Lymphocytic Leukemia with Del 13q14.

Blood ◽  
2009 ◽  
Vol 114 (22) ◽  
pp. 2640-2640
Author(s):  
Ludger Sellmann ◽  
Rene Scholtysik ◽  
Holger Nueckel ◽  
Tanja Boes ◽  
Alexander Carpinteiro ◽  
...  
Keyword(s):  
Gene Expression ◽  
Chromosomal Abnormalities ◽  
Gene Dosage ◽  
Micro Rna ◽  
Lymphocytic Leukemia ◽  
Fish Analysis ◽  
Gene Dosage Effects ◽  
Dosage Effects ◽  
Bcl2 Protein ◽  
Rna Genes

Abstract Abstract 2640 Poster Board II-616 Introduction: Deletion of 13q14 (del13q14) is the most common abnormality of B-chronic lymphocytic leukemia (CLL). However, for a long time investigations of this region did not detect the relevant pathogenetic mechanism. Micro-RNA genes MIRN15a and MIRN16-1 located on 13q14.3 were postulated to close this gap. Down-regulated expression of these miRNAs was shown to increase the anti apoptotic B cell lymphoma 2 (Bcl2) proteins. However, relevance and frequency of deregulated micro-RNA genes was differentially described. To understand the influence of deletion of chromosomal region 13q14 on gene expression, chromosomal abnormalities detected by single nucleotide polymorphism (SNP) chips were compared with gene expression analyzed by gene expression profiling in CLL. Furthermore, impact of deletion 13q14 on MIRN15A and MIRN16-1 expression and correlation to BCL2 protein expression were investigated. Methods: 15 B-CLL cases harboring del 13q14 were investigated for the extend of deletion with the 50k Xbal SNP array. Gene expression of the genes located in the aberrant region evaluated by Affymetrix U133A gene chip of 13 of these cases was compared between cases with and without this aberration. FISH analysis was done to validate SNP-data. Expression of MIRN15a and MIRN16-1 was evaluated by real-time PCR from further 20 B-CLL with TaqMan MicroRNA assays. From the 25 cases Western blot analysis for Bcl2 was performed. Results: SNP-chip and FISH analysis with probes for regions RB1, D13S25 and D13S319 gave consistent results. The minimal deleted region of del13q14 reaches from physical position 49543165 to 50272626 and mostly includes the location of MIRN15a and 16-1. 10 gene probes were located in the aberrant chromosomal 13q14 region and entered statistical analysis. In 4 of 5 genes with monoallelic deletions gene expression was significantly reduced. In regions harbouring mono- and biallelic deletions in 4 of 5 genes the monoallelic deleted cases showed decreased expression compared to the normal cases. Evaluation of MIRN15a and MIRN16-1 revealed strong down-regulation of expression in CLL harbouring biallelic del13q14 compared to other CLL and healthy B-cells (p=0.002; p=0.002), whereas there were no statistically significant differences between CLL with or without monoallelic deletion or healthy B-cells (p=0.534; p=0.665). Bcl2 Western blot analysis revealed stronger Bcl2 expression in CLL harbouring del13q14 in contrast to CLL without this abnormality (p=0.002). However, no difference between cases with mono- or biallelic del13q14 was detected (p=0.400). Conclusion: SNP chip analysis is a helpful tool to detect chromosomal abnormalities on a high resolution. Although detailed genetic analyses failed to demonstrate the consistent involvement of any of the genes located in the deleted region of B-CLL harboring del13q14, reduced expression occurred in most of these genes indicating gene dosage effects. MIRN15a and MIRN16-1 expression are frequently reduced in B-CLL with biallelic but not monoallelic deletion of 13q14 without an influence on Bcl2 protein levels. Disclosures: Off Label Use: intrapleural and intraperitoneal use of rituximab.

scholarly journals Genetics advances and learning disability

2000 ◽  
Vol 176 (1) ◽  
pp. 12-19 ◽  
Author(s):  
Walter J. Muir
Keyword(s):  
Learning Disability ◽  
Gene Dosage ◽  
Genetic Disorders ◽  
Molecular Medicine ◽  
Gene Dosage Effects ◽  
Dosage Effects ◽  
Rapid Changes ◽  
Basic Understanding ◽  
Genetic Mechanisms ◽  
Dynamic Mutations

BackgroundMedicine is rapidly becoming molecular medicine, and little escapes the grasp of modern genetics. Most disorders associated with learning disability have at least a genetic component influencing their expression; in many disorders, disturbances of genetic mechanisms play a pivotal role.AimsDynamic mutations, imprinting mechanisms and gene-dosage effects are explained with reference to genetic disorders that lead to learning disability.MethodA review of recent important studies in the genetics of learning disability.ResultsA host of new genetic connections to conditions associated with learning disability have been made.ConclusionsA basic understanding of these genetic connections is important for all learning disability psychiatrists if they are to follow the rapid changes – already beginning to influence our practice – that hold immense promise for the future.

Gene Dosage Effects at the ae Locus on Amylose Content of Corn Endosperm

1966 ◽  
Vol 57 (3) ◽  
pp. 90-90 ◽  
Author(s):  
V. L. FERG ASON ◽  
J. L. HELM ◽  
M. S. ZUBER
Keyword(s):  
Gene Dosage ◽  
Amylose Content ◽  
Gene Dosage Effects ◽  
Dosage Effects

Gene Dosage Effects on Corn Endosperm Carbohydrates 1

1953 ◽  
Vol 45 (3) ◽  
pp. 101-104 ◽  
Author(s):  
G. M. Dunn ◽  
H. H. Kramer ◽  
Roy L. Whistler
Keyword(s):  
Gene Dosage ◽  
Gene Dosage Effects ◽  
Dosage Effects
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