Department of Zoology, University of Washington, Seattle, Washington, 98195.
Genetics. 1979 Sep;93(1):105-15. doi: 10.1093/genetics/93.1.105.
A dominant eye color mutation was found associated with a third chromosome inversion broken distally at or near the karmoisin (kar) locus in 87C and proximally within centric heterochromatin. Suppressibility of the mutant phenotype by an extra Y chromosome indicated that this was an example of dominant position-effect variegation. When heterozygous with deficiencies uncovering the kar locus, this inversion chromosome was found to be lethal unless a region in 87EF was also deleted. Extra Y chromosomes rescued inversion/deletion heterozygotes, while removal of the Y chromosome from heterozygous males deficient for the region in 87EF was lethal. Thus, a variegating lethal lies near the breakpoint in 87C, and a wild-type gene that enhances its variegation lies in 87EF. Furthermore, deletion of the region in 87EF was found to strongly suppress white-mottled-4 (w(m4)) variegation, while deletion of another region in 87BC suppressed less strongly. These results indicate that essential genes on autosomes are sensitive to position effects, and loci that enhance variegation, as defined by deficiency mapping, are very common.
发现一个显性眼色突变与 87C 号染色体的第三染色体倒位有关,该倒位在或接近 karmoisin(kar)基因座处的远端以及着丝粒异染色质的近端发生断裂。额外的 Y 染色体对突变表型的抑制表明这是显性位置效应变异的一个例子。当与揭示 kar 基因座的缺失杂合子时,发现这条倒位染色体是致死的,除非 87EF 区也缺失。额外的 Y 染色体拯救了倒位/缺失杂合体,而从缺失 87EF 区的杂合雄性中去除 Y 染色体是致命的。因此,一个变异致死位于 87C 的断点附近,而一个增强其变异的野生型基因位于 87EF。此外,发现 87EF 区的缺失强烈抑制了白色斑点-4(w(m4))的变异,而 87BC 区的缺失抑制较弱。这些结果表明,常染色体上的必需基因对位置效应很敏感,而通过缺失作图定义的增强变异的基因座非常常见。