Wessler S, Tarpley A, Purugganan M, Spell M, Okagaki R
Botany Department, University of Georgia, Athens 30602.
Proc Natl Acad Sci U S A. 1990 Nov;87(22):8731-5. doi: 10.1073/pnas.87.22.8731.
We have determined the structure of five spontaneous deletions within the maize waxy (Wx) gene. Of these, four were found in spontaneous wx mutants (wx-B, wx-B1, wx-B6, wx-C4) and include exon sequences; the fifth is restricted to an intron and represents a restriction fragment length polymorphism of a nonmutant allele (Wx-W23). The deletions, which range in size from 60 to 980 base pairs (bp), cluster in a G+C-rich region of approximately 1000 bp that is capable of forming stable secondary structures. Most striking is our finding that all of the alleles have DNA insertions (filler DNA) of 1-131 bp between the deletion endpoints. For three of the five deletions, the filler DNA and sequences at the deletion termini appear to be derived from sequences near one deletion endpoint. A previously reported spontaneous deletion of the maize bronze gene (bz-R) also contains filler DNA. The association of filler DNA with maize deletion endpoints contrasts dramatically with the rarity of similar events in animal germ-line and bacterial mutations.
我们已经确定了玉米蜡质(Wx)基因内五个自发缺失的结构。其中,四个在自发的wx突变体(wx-B、wx-B1、wx-B6、wx-C4)中被发现,并且包含外显子序列;第五个局限于一个内含子,代表一个非突变等位基因(Wx-W23)的限制性片段长度多态性。这些缺失的大小在60到980个碱基对(bp)之间,聚集在一个大约1000 bp的富含G+C的区域,该区域能够形成稳定的二级结构。最引人注目的是我们发现所有等位基因在缺失端点之间都有1至131 bp的DNA插入(填充DNA)。对于五个缺失中的三个,填充DNA和缺失末端的序列似乎源自一个缺失端点附近的序列。先前报道的玉米青铜基因(bz-R)的自发缺失也包含填充DNA。填充DNA与玉米缺失端点的关联与动物生殖系和细菌突变中类似事件的罕见性形成了鲜明对比。