Siracusa L D, Russell L B, Jenkins N A, Copeland N G
Mammalian Genetics Laboratory, NCI-Frederick Cancer Research Facility, Maryland 21701.
Genetics. 1987 Sep;117(1):85-92. doi: 10.1093/genetics/117.1.85.
Gene(s) at the agouti locus act within the microenvironment of the hair follicle to switch pigment synthesis in the melanocyte between eumelanin (black or brown pigment) and phaeomelanin (yellow pigment). Many phenotypic variants of this locus have been described. The mechanism(s) of gene action causing such variation in coat-color phenotype is not known. The close linkage of an endogenous ecotropic murine leukemia provirus, Emv-15, to the lethal yellow mutation of the agouti locus provides a means to molecularly access genes at or near the agouti locus. We have identified and used a unique mouse sequence flanking the Emv-15 provirus to define three alleles of the Emv-15 locus. We found a correlation between the presence of specific Emv-15 alleles and the origins of specific agouti locus mutations, confirming close linkage. However, we found some exceptions which suggest that the Emv-15 locus is closely linked to, but genetically separable from, the agouti locus.
刺鼠基因座上的基因在毛囊微环境中发挥作用，使黑素细胞中的色素合成在真黑素（黑色或棕色色素）和褐黑素（黄色色素）之间转换。该基因座已被描述出许多表型变异。导致毛色表型出现这种变异的基因作用机制尚不清楚。内源性嗜亲性鼠白血病前病毒Emv - 15与刺鼠基因座的致死黄色突变紧密连锁，为从分子层面研究刺鼠基因座或其附近的基因提供了一种方法。我们已鉴定并使用了Emv - 15前病毒侧翼的一个独特小鼠序列来定义Emv - 15基因座的三个等位基因。我们发现特定Emv - 15等位基因的存在与特定刺鼠基因座突变的起源之间存在相关性，证实了紧密连锁。然而，我们也发现了一些例外情况，这表明Emv - 15基因座与刺鼠基因座紧密连锁，但在遗传上是可分离的。
