Waksman Institute, Rutgers University, Piscataway, NJ 08854;
Department of Plant Biology, Rutgers University, New Brunswick, NJ 08901.
Proc Natl Acad Sci U S A. 2019 May 28;116(22):10734-10743. doi: 10.1073/pnas.1903809116. Epub 2019 Apr 16.
While studying spontaneous mutations at the maize () locus, we made the unexpected discovery that specific low-copy number retrotransposons are mobile in the pollen of some maize lines, but not of others. We conducted large-scale genetic experiments to isolate new mutations from several stocks and recovered spontaneous stable mutations only in the pollen parent in reciprocal crosses. Most of the new stable mutations resulted from either insertions of low-copy number long terminal repeat (LTR) retrotransposons or deletions, the same two classes of mutations that predominated in a collection of spontaneous mutations [Wessler S (1997) , pp 385-386]. Similar mutations were recovered at the closely linked locus. These events occurred with a frequency of 2-4 × 10 in two lines derived from W22 and in 4Co63, but not at all in B73 or Mo17, two inbreds widely represented in Corn Belt hybrids. Surprisingly, the mutagenic LTR retrotransposons differed in the active lines, suggesting differences in the autonomous element make-up of the lines studied. Some active retrotransposons, like , , and , a variant, were described previously; others, like and in 4Co63, were not. By high-throughput sequencing of retrotransposon junctions, we established that retrotranposition of , , and occurs genome-wide in the pollen of active lines, but not in the female germline or in somatic tissues. We discuss here the implications of these results, which shed light on the source, frequency, and nature of spontaneous mutations in maize.
在研究玉米()座位的自发突变时,我们意外地发现,特定的低拷贝数反转录转座子在一些玉米品系的花粉中是可移动的,但在其他品系中则不可移动。我们进行了大规模的遗传实验,从几个品系中分离新的突变,并仅在回交的花粉亲本中恢复自发稳定的突变。大多数新的稳定突变来自低拷贝数长末端重复(LTR)反转录转座子的插入或缺失,这两种突变类型与自发突变的一个集合中占主导地位的突变类型相同[Wessler S(1997),第 385-386 页]。在紧密连锁的()座位上也恢复了类似的突变。这两个事件发生的频率在两个来自 W22 的品系和 4Co63 中为 2-4×10-6,但在 B73 或 Mo17 中则根本没有,这两个自交系在玉米带杂交种中广泛存在。令人惊讶的是,诱变的 LTR 反转录转座子在活跃的品系中有所不同,这表明所研究的品系中自主元件的组成存在差异。一些活跃的反转录转座子,如、、和一个变体,以前已有描述;其他的,如 4Co63 中的和,以前则没有。通过对反转录转座子接头的高通量测序,我们确定了活跃品系花粉中、和的反转录转座发生在全基因组范围内,但在雌性生殖系或体细胞组织中则没有。我们在这里讨论这些结果的意义,这些结果揭示了玉米中自发突变的来源、频率和性质。