DsdA(D-serine deaminase): a new heterologous MX cassette for gene disruption and selection inSaccharomyces cerevisiae

Tuberous sclerosis complex (TSC) is a genetic condition caused by a mutation in either the TSC1 or TSC2 gene. Disruption of either of these genes leads to impaired production of hamartin or tuberin proteins, leading to the manifestation of skin lesions, tumors and seizures. TSC can manifests in multiple organ systems with the cutaneous and renal systems being the most commonly affected. These manifestations can secondarily lead to the development of hypertension, chronic kidney disease, and neurocognitive declines. The renal pathologies most commonly seen in TSC are angiomyolipoma, renal cysts and less commonly, oncocytomas. In this review, we highlight the current understanding on the renal manifestations of TSC along with current diagnosis and treatment guidelines.

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Faculty Opinions recommendation of DDB2 gene disruption leads to skin tumors and resistance to apoptosis after exposure to ultraviolet light but not a chemical carcinogen.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1017504.203268 ◽

2004 ◽

Author(s):

Errol C Friedberg

Keyword(s):

Ultraviolet Light ◽

Gene Disruption ◽

Skin Tumors ◽

Chemical Carcinogen

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Faculty Opinions recommendation of Disturbed homeostasis in sodium-restricted mice heterozygous and homozygous for aldosterone synthase gene disruption.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1048190.500106 ◽

2006 ◽

Author(s):

John Funder

Keyword(s):

Gene Disruption ◽

Aldosterone Synthase

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Faculty Opinions recommendation of Muscle-specific Pikfyve gene disruption causes glucose intolerance, insulin resistance, adiposity, and hyperinsulinemia but not muscle fiber-type switching.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718014202.793477662 ◽

2013 ◽

Author(s):

Alex Toker ◽

Kristin Brown

Keyword(s):

Insulin Resistance ◽

Glucose Intolerance ◽

Muscle Fiber ◽

Gene Disruption ◽

Fiber Type ◽

Muscle Fiber Type

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α1-Syntrophin Gene Disruption Results in the Absence of Neuronal-type Nitric-oxide Synthase at the Sarcolemma but Does Not Induce Muscle Degeneration

Journal of Biological Chemistry ◽

10.1074/jbc.274.4.2193 ◽

1999 ◽

Vol 274 (4) ◽

pp. 2193-2200 ◽

Cited By ~ 134

Author(s):

Shuhei Kameya ◽

Yuko Miyagoe ◽

Ikuya Nonaka ◽

Takaaki Ikemoto ◽

Makoto Endo ◽

...

Keyword(s):

Nitric Oxide ◽

Nitric Oxide Synthase ◽

Gene Disruption ◽

Muscle Degeneration ◽

Oxide Synthase ◽

Neuronal Type

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The Schizosaccharomyces pombe cho1+ Gene Encodes a Phospholipid Methyltransferase

Genetics ◽

10.1093/genetics/150.2.553 ◽

1998 ◽

Vol 150 (2) ◽

pp. 553-562

Author(s):

Margaret I Kanipes ◽

John E Hill ◽

Susan A Henry

Keyword(s):

Saccharomyces Cerevisiae ◽

Sequence Analysis ◽

Schizosaccharomyces Pombe ◽

Gene Disruption ◽

Structure And Function ◽

Biosynthetic Enzyme ◽

Gene Encoding ◽

Complementation Groups ◽

Eukaryotic Organisms ◽

And Function

Abstract The isolation of mutants of Schizosaccharomyces pombe defective in the synthesis of phosphatidylcholine via the methylation of phosphatidylethanolamine is reported. These mutants are choline auxotrophs and fall into two unlinked complementation groups, cho1 and cho2. We also report the analysis of the cho1+ gene, the first structural gene encoding a phospholipid biosynthetic enzyme from S. pombe to be cloned and characterized. The cho1+ gene disruption mutant (cho1Δ) is viable if choline is supplied and resembles the cho1 mutants isolated after mutagenesis. Sequence analysis of the cho1+ gene indicates that it encodes a protein closely related to phospholipid methyltransferases from Saccharomyces cerevisiae and rat. Phospholipid methyltransferases encoded by a rat liver cDNA and the S. cerevisiae OPI3 gene are both able to complement the choline auxotrophy of the S. pombe cho1 mutants. These results suggest that both the structure and function of the phospholipid N-methyltransferases are broadly conserved among eukaryotic organisms.

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