| 1 | Newborn screening with targeted sequencing:a multicenter investigation and a pilot clinical study in China显示文摘Different newborn screening(NBS) programs have been practiced in many countries since the 1960 s. It is of considerable interest whether next-generation sequencing is applicable in NBS. We have developed a panel of 465 causative genes for 596 early-onset, relatively high incidence, and potentially actionable severe inherited diseases in our Newborn Screening with Targeted Sequencing(NESTS) program to screen 11,484 babies in 8 Women and Children’s hospitals nationwide in China retrospectively. The positive rate from preliminary screening of NESTS was 7.85%(902/11,484). With 45.89%(414/902) follow-up of preliminary positive cases, the overall clinically confirmative diagnosis rate of monogenic disorders was 12.07%(50/414), estimating an average of 0.95%(7.85% × 12.07%) clinical diagnosis rate, suggesting that monogenic disorders account for a considerable proportion of birth defects. The disease/gene spectrum varied in different regions of China. NESTS was implemented in a hospital by screening 3923 newborns to evaluate its clinical application. The turn-around time of a primary report, including the sequencing period of < 7 days, was within 11 days by our automatic interpretation pipeline. Our results suggest that NESTS is feasible and cost-effective as a first-tier NBS program, which will change the status of current clinical practice of NBS in China. | Chanjuan Hao Ruolan Guo Xuyun Hu Zhan Qi Qi Guo Xuanshi Liu Yuanhu Liu Yanhua Sun Xiaofen Zhang Feng Jin Xiujie Wu Ren Cai Dingyuan Zeng Xijiang Hu Xiaohua Wang Xiaoping Ji Wenjie Li Quansheng Xing Lanfang Mu Xiulian Jiang Xue Yang Weimin Yang Yan Zhang Qianli Yin Xin Ni Wei Li | 2022 | Journal of Genetics and Genomics2022，49，1： | 7 |
| 2 | GmCRY1s modulate gibberellin metabolism to regulate soybean shade avoidance in response to reduced blue light显示文摘Soybean is an important legume crop that displays the classic shade avoidance syndrome(SAS),including exaggerated stem elongation,which leads to lodging and yield reduction under density farming conditions.Here,we compared the effects of two shade signals,low red light to far-red light ratio(R:FR)and low blue light(LBL),on soybean status and revealed that LBL predominantly induces excessive stem elongation.We used CRISPR-Cas9-engineered Gmcry mutants to investigate the functions of seven cryptochromes(GmCRYs)in soybean and found that the four GmCRY1s overlap in mediating LBL-induced SAS.Lightactivated GmCRY1s increase the abundance of the bZlP transcription factors STF1 and STF2,which directly upregulate the expression of genes encoding GA2 oxidases to deactivate GA1 and repress stem elongation.Notably,GmCRY1b overexpression lines displayed multiple agronomic advantages over the wild-type control under both dense planting and intercropping conditions.Our study demonstrates the integration of GmCRY1-mediated signals with the GA metabolic pathway in the regulation of LBL-induced SAS in soybean.It also provides a promising option for breeding lodging-resistant,high-yield soybean cultivars in the future. | Xiangguang Lyu Qican Cheng Chao Qin Yinghui Li Xinying Xu Ronghuan Ji Ruolan Mu Hongyu Li Tao Zhao Jun Liu Yonggang Zhou Haiyan Li Guodong Yang Qingshan Chen Bin Liu | 2021 | Molecular Plant2021，14，2： | 4 |
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