Dissecting Epistatic QTL for Blood Pressure in Rats: Congenic Strains versus Heterogeneous Stocks, a Reality Check.

摘要: Advances in molecular genetics have provided well-defined physical genetic maps and large numbers of markers for both model organisms humans. It is now possible to gain a fundamental understanding the architecture underlying quantitative traits, which blood pressure (BP) an important example. This review emphasizes analytical techniques results obtained using Dahl salt-sensitive (S) rat as hypertension by presenting detail three specific chromosomal regions harboring elements increasing complexity controlling BP. These highlight critical importance interactions (epistasis) on BP at all levels structure, intragenic, intergenic, intrachromosomal, interchromosomal, across whole genomes. In two examples presented, DNA structural variations leading biochemical, physiological, pathological mechanisms are well defined. proves usefulness involving interval mapping followed substitution congenic strains. classic compared newer approaches sophisticated statistical analysis various segregating or outbred model-organism populations, some cases uniquely useful demonstrating existence higher-order interactions. speculated that outlier phenotype dependent The obstacle identification biochemical/physiological involved not theoretical technical but lack future resources finish job identifying individual trait loci ascertaining their functions. © 2019 American Physiological Society. Compr Physiol 9:1305-1337, 2019.