Copy number variation in potato - an asexually propagated autotetraploid species
Copy number variation in potato - an asexually propagated autotetraploid species
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DOI：
10.1111/tpj.12200
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发表时间：
2013-07-01
期刊：
影响因子：
7.2
通讯作者：
Jiang, Jiming
中科院分区：
文献类型：
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作者：
Iovene, Marina;Zhang, Tao;Jiang, Jiming
拷贝数变异（CNV）已被揭示为人类遗传变异的重要贡献者。虽然CNV已经在几种模式动物和植物物种中报道，但在多倍体物种中CNV的存在及其生物学影响尚未被记录。我们进行了荧光原位杂交（FISH）为基础的CNV调查马铃薯，植物繁殖的同源四倍体物种（2n = 4x = 48）。我们进行了FISH分析，使用18个随机选择的马铃薯细菌人工染色体（BAC）克隆在一组16个马铃薯品种具有不同的育种背景。发现6个插入片段大小为137 - 145kb的BAC（33%）与细胞学水平上可检测到的大CNV事件相关。我们证明了与两种特定BAC（RH102I10和RH83C08）相关的大CNVs在北美和欧洲开发的马铃薯品种中广泛存在。我们测量了与BAC RH102I10跨越的CNV相关的四个基因的转录丰度。所有四个基因的转录都表现出剂量效应。虽然马铃薯是无性繁殖的，但我们观察到缺乏RH102I10相关CNV的雌性配子不如具有至少一个拷贝的这种CNV的雌性配子，表明RH102I10相关CNV可以影响马铃薯植物的生长和发育。我们的研究结果表明，CNV是高度丰富的马铃薯基因组中，并可能发挥重要的作用，这种重要的粮食作物的遗传变异。
Copy number variation (CNV) has been revealed as a significant contributor to the genetic variation in humans. Although CNV has been reported in several model animal and plant species, the presence of CNV and its biological impact in polyploid species has not yet been documented. We conducted a fluorescence in situ hybridization (FISH)-based CNV survey in potato, a vegetatively propagated autotetraploid species (2n=4x=48). We conducted FISH analysis using 18 randomly selected potato bacterial artificial chromosome (BAC) clones in a set of 16 potato cultivars with diverse breeding backgrounds. Six BACs (33%) with insert sizes of 137-145kb were found to be associated with large CNV events detectable at the cytological level. We demonstrate that the large CNVs associated with two specific BACs (RH102I10 and RH83C08) were widespread among potato cultivars developed in North America and Europe. We measured the transcript abundance of four genes associated with the CNV spanned by BAC RH102I10. All four genes displayed a dosage effect in transcription. Although potato is vegetatively propagated, we observed that female gametes lacking the RH102I10-associated CNV were inferior to those with at least one copy of this CNV, indicating that the RH102I10-associated CNV can impact on the growth and development of the potato plants. Our results show that CNV is highly abundant in the potato genome and may play a significant role in genetic variation of this important food crop.