Siracusa L D
Jefferson Cancer Institute, Thomas Jefferson University, Department of Microbiology and Immunology, Philadelphia, PA 19107.
Trends Genet. 1994 Dec;10(12):423-8. doi: 10.1016/0168-9525(94)90112-0.
The agouti locus was first identified as a result of its effects on the type and temporal deposition of coat color pigments in mammals. Many mutations at the murine agouti locus have now been found, some of which not only affect coat color, but also interfere with diverse biological processes leading to diabetes, obesity, tumor susceptibility and embryonic lethality. Correlations between the genotype and phenotype of agouti mutants, as well as reasons for the pleiotropy of effects caused by agouti mutations, have begun to unfold with the molecular cloning of the agouti gene and its surrounding genomic region.
刺鼠基因座最初是因其对哺乳动物皮毛颜色色素的类型和时间沉积的影响而被发现的。现在已经在小鼠的刺鼠基因座上发现了许多突变,其中一些不仅影响皮毛颜色,还会干扰导致糖尿病、肥胖、肿瘤易感性和胚胎致死性等多种生物过程。随着刺鼠基因及其周围基因组区域的分子克隆,刺鼠突变体的基因型与表型之间的相关性以及刺鼠突变产生多效性效应的原因已开始显现。