PLEIOTROPIC GENE ACTION

Obesity as a pleiotropic effect of gene action.

Obesity, an easily detected and quantifiable phenotypic endpoint, is often considered, colloquially, as a disease. However, the study of obesity in rodents suggests that it is merely a convenient indicator of diverse underlying metabolic and physiologic dysregulations, rather than a disease entity in itself. To illustrate this concept, the differences between the murine Lepob/Lepob and Avy/- "o...

A model for antagonistic pleiotropic gene action for mortality and advanced age.

Association or linkage studies involving control and long-lived populations provide information on genes that influence longevity. However, the relationship between allele-specific differences in survival and the genetic structure of aging cohorts remains unclear. We model a heterogeneous cohort comprising several genotypes differing in age-specific mortality. In its most general form, without ...

Pleiotropic effect of the staggerer gene.

Pleiotropic effects of the gene for retinoblastoma.

Vigorous treatment of retinoblastoma in the last 30 years has resulted in a large population ofsurvivors with useful vision, in which the late effects of genetically associated tumours can be seen. An increase in second primary tumours, mainly osteogenic sarcoma, has been found in those children who carry the germinal mutations, and not in the majority of survivors of unilateral disease. The fi...

Vitamin D: Metabolism, Molecular Mechanism of Action, and Pleiotropic Effects.

1,25-Dihydroxvitamin D3 [1,25(OH)2D3] is the hormonally active form of vitamin D. The genomic mechanism of 1,25(OH)2D3 action involves the direct binding of the 1,25(OH)2D3 activated vitamin D receptor/retinoic X receptor (VDR/RXR) heterodimeric complex to specific DNA sequences. Numerous VDR co-regulatory proteins have been identified, and genome-wide studies have shown that the actions of 1,2...