scholarly journals Ofd1, a Human Disease Gene, Regulates the Length and Distal Structure of Centrioles

2010 ◽  
Vol 18 (3) ◽  
pp. 410-424 ◽  
Author(s):  
Veena Singla ◽  
Miriam Romaguera-Ros ◽  
Jose Manuel Garcia-Verdugo ◽  
Jeremy F. Reiter
Keyword(s):  
Human Disease ◽  
Disease Gene ◽  
Human Disease Gene

scholarly journals Sentinel interaction mapping – a generic approach for the functional analysis of human disease gene variants using yeast

2020 ◽  
Vol 13 (7) ◽  
pp. dmm044560
Author(s):  
Barry P. Young ◽  
Kathryn L. Post ◽  
Jesse T. Chao ◽  
Fabian Meili ◽  
Kurt Haas ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Human Disease ◽  
Disease Gene ◽  
Suppressor Gene ◽  
Tumour Suppressor Gene ◽  
Disease Genes ◽  
Gene Variants ◽  
Human Disease Gene ◽  
Simple Growth

ABSTRACTAdvances in sequencing technology have led to an explosion in the number of known genetic variants of human genes. A major challenge is to now determine which of these variants contribute to diseases as a result of their effect on gene function. Here, we describe a generic approach using the yeast Saccharomyces cerevisiae to quickly develop gene-specific in vivo assays that can be used to quantify the level of function of a genetic variant. Using synthetic dosage lethality screening, ‘sentinel’ yeast strains are identified that are sensitive to overexpression of a human disease gene. Variants of the gene can then be functionalized in a high-throughput fashion through simple growth assays using solid or liquid media. Sentinel interaction mapping (SIM) has the potential to create functional assays for the large majority of human disease genes that do not have a yeast orthologue. Using the tumour suppressor gene PTEN as an example, we show that SIM assays can provide a fast and economical means to screen a large number of genetic variants.

scholarly journals Africa: the next frontier for human disease gene discovery?

2011 ◽  
Vol 20 (R2) ◽  
pp. R214-R220 ◽  
Author(s):  
M. Ramsay ◽  
C. T. Tiemessen ◽  
A. Choudhury ◽  
H. Soodyall
Keyword(s):  
Human Disease ◽  
Disease Gene ◽  
Gene Discovery ◽  
Human Disease Gene ◽  
Disease Gene Discovery

scholarly journals Sentinel Interaction Mapping (SIM) – A generic approach for the functional analysis of human disease gene variants using yeast

2020 ◽  
Author(s):  
Barry P Young ◽  
Kathryn L Post ◽  
Jesse T Chao ◽  
Fabian Meili ◽  
Kurt Haas ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Human Disease ◽  
Disease Gene ◽  
Suppressor Gene ◽  
Tumour Suppressor Gene ◽  
Disease Genes ◽  
Gene Variants ◽  
Human Disease Gene ◽  
Simple Growth

AbstractAdvances in sequencing technology have led to an explosion in the number of known genetic variants of human genes. A major challenge is to now determine which of these variants contribute to diseases as a result of their effect on gene function. Here we describe a generic approach using the yeast Saccharomyces cerevisiae to quickly develop gene-specific in vivo assays that can be used to quantify the level of function of a genetic variant. Using Synthetic Dosage Lethality screening, “sentinel” yeast strains are identified that are sensitive to overexpression of a human disease gene. Variants of the gene can then be functionalized in high-throughput fashion through simple growth assays using either solid or liquid media. Sentinel Interaction Mapping (SIM) has the potential to create functional assays for the large majority of human disease genes that do not have a yeast orthologue. Using the tumour suppressor gene PTEN as an example, we show that SIM assays can provide a fast and economical means to screen a large number of genetic variants.

Convergent Myotonie Dystrophy (DM) Haplotypes: Potential Inconsistencies in Human Disease Gene Localization

1995 ◽  
Vol 3 (3) ◽  
pp. 195-202 ◽  
Author(s):  
E.J. (a) Whiting ◽  
C. (b) Tsilfidis ◽  
L. (c) Surh ◽  
A.E. (d) MacKenzie ◽  
E.G. (a, d) Korneluk
Keyword(s):  
Human Disease ◽  
Disease Gene ◽  
Gene Localization ◽  
Human Disease Gene

scholarly journals Comparative Genomics Identifies a Flagellar and Basal Body Proteome that Includes the BBS5 Human Disease Gene

Cell ◽  
2004 ◽  
Vol 117 (4) ◽  
pp. 541-552 ◽  
Author(s):  
Jin Billy Li ◽  
Jantje M Gerdes ◽  
Courtney J Haycraft ◽  
Yanli Fan ◽  
Tanya M Teslovich ◽  
...  
Keyword(s):  
Comparative Genomics ◽  
Basal Body ◽  
Human Disease ◽  
Disease Gene ◽  
Human Disease Gene
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