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Journal ArticleDOI

Modifier genes in mice and humans.

Joseph H. Nadeau
- 01 Mar 2001 - 
- Vol. 2, Iss: 3, pp 165-174
TLDR
Understanding the molecular and cellular basis by which modifier genes exert their influence will provide insights into developmental and physiological pathways that are critical to fundamental biological processes, as well as into novel targets for therapeutic interventions in human diseases.
Abstract
An emerging theme of studies with spontaneous, engineered and induced mutant mice is that phenotypes often depend on genetic background, implying that genetic modifiers have a role in guiding the functional consequences of genetic variation. Understanding the molecular and cellular basis by which modifier genes exert their influence will provide insights into developmental and physiological pathways that are critical to fundamental biological processes, as well as into novel targets for therapeutic interventions in human diseases.

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Citations
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Global Mapping of the Yeast Genetic Interaction Network: Discovering Gene and Drug Function

TL;DR: A method called Synthetic Genetic Array (SGA) analysis was developed in this paper, which automates yeast genetics and enables a systematic and high- throughput construction of double mutants from an ordered array of ~4700 viable gene deletion mutants.
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Epistasis--the essential role of gene interactions in the structure and evolution of genetic systems.

TL;DR: There is a renewed appreciation both for the importance of studying gene interactions and for addressing these questions in a unified, quantitative manner with the advent of high-throughput functional genomics.
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The genetic architecture of quantitative traits

TL;DR: Complete genome sequences and improved technologies for polymorphism detection will greatly advance the genetic dissection of quantitative traits in model organisms, which will open avenues for exploration of homologous QTL in related taxa.
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Finding Genes That Underlie Complex Traits

TL;DR: This work proposes standards for proof of gene discovery in complex traits and evaluates the nature of the genes identified to date, and demonstrates the insights that can be expected from the accelerating pace of geneiscovery in this field.
References
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Book

The Metabolic and Molecular Bases of Inherited Disease

TL;DR: In this paper, the authors present a list of disorders of MITOCHONDRIAL FUNCTION, including the following: DISORDERS OF MIOCHONDRIC FERTILITY XIX, XVI, XIX.
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A receptor-mediated pathway for cholesterol homeostasis.

TL;DR: The approach was to apply the techniques of cell culture to unravel the postulated regulatory defect in FH, which led to the discovery of a cell surface receptor for a plasma cholesterol transport protein called low density lipoprotein (LDL) and to the elucidation of the mechanism by which this receptor mediates feedback control of cholesterol synthesis.
Journal ArticleDOI

Suppression of Intestinal Polyposis in ApcΔ716 Knockout Mice by Inhibition of Cyclooxygenase 2 (COX-2)

TL;DR: Results provide direct genetic evidence that COX-2 plays a key role in tumorigenesis and indicate that COx-2-selective inhibitors can be a novel class of therapeutic agents for colorectal polyposis and cancer.
Journal ArticleDOI

Multiple intestinal neoplasia caused by a mutation in the murine homolog of the APC gene.

TL;DR: In this paper, a mouse lineage that exhibits an autosomal dominantly inherited predisposition to multiple intestinal neoplasia (Min) was described and linkage analysis showed that the murine homolog of the APC gene (mApc) was tightly linked to the Min locus.
Journal ArticleDOI

A dominant mutation that predisposes to multiple intestinal neoplasia in the mouse

TL;DR: In a pedigree derived from a mouse treated with the mutagen ethylnitrosourea, a mutation has been identified that predisposes to spontaneous intestinal cancer.
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