Journal of Genetics and Genomics

RSBP15 interacts with and stabilizes dRSPH3 during sperm axoneme assembly in Drosophila

Ya Wang, Rui Xu, Yiwei Cheng, Haowei Cao, Zibin Wang, Tianyu Zhu, Jiayin Jiang, Hao Zhang, Chang Wang, Lin Qi, Mingxi Liu, Xuejiang Guo, Juan Huang, Jiahao Sha

2019, 46(6): 281-290. doi: 10.1016/j.jgg.2019.05.001

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Abstract:
Flagellum in sperm is composed of over 200 different proteins and is essential for sperm motility. In particular, defects in the assembly of the radial spoke in the flagellum result in male infertility due to loss of sperm motility. However, mechanisms regulating radial spoke assembly remain unclear in metazoans. Here, we identified a novel Drosophila protein radial spoke binding protein 15 (RSBP15) which plays an important role in regulating radial spoke assembly. Loss of RSBP15 results in complete lack of mature sperms in seminal vesicles (SVs), asynchronous individualization complex (IC) and defective “9 + 2” structure in flagella. RSBP15 is colocalized with dRSPH3 in sperm flagella, and interacts with dRSPH3 through its DD_R_PKA superfamily domain which is important for the stabilization of dRSPH3. Moreover, loss of dRSPH3, as well as dRSPH1, dRSPH4a and dRSPH9, showed similar phenotypes to rsbp15 mutant. Together, our results suggest that RSBP15 acts in stabilizing the radial spoke protein complex to anchor and strengthen the radial spoke structures in sperm flagella.

Nlrc3-like is required for microglia maintenance in zebrafish

Tienan Wang, Bo Yan, Liang Lou, Xi Lin, Tao Yu, Shuting Wu, Qing Lu, Wei Liu, Zhibin Huang, Mingjie Zhang, Wenqing Zhang, Zilong Wen

2019, 46(6): 291-299. doi: 10.1016/j.jgg.2019.06.002

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Abstract:
Microglia are tissue-resident macrophages residing in the central nervous system (CNS) and play critical roles in removing cellular debris and infectious agents as well as regulating neurogenesis and neuronal activities. Yet, the molecular basis underlying the establishment of microglia pool and the maintenance of their homeostasis in the CNS remain largely undefined. Here we report the identification and characterization of a mutant zebrafish, which harbors a point mutation in the nucleotide-binding oligomerization domain (NOD) like receptor gene nlrc3-like, resulting in the loss of microglia in a temperature sensitive manner. Temperature shift assay reveals that the late onset of nlrc3-like deficiency leads to excessive microglia cell death. Further analysis shows that the excessive microglia death in nlrc3-like deficient mutants is attributed, at least in part, to aberrant activation of canonical inflammasome pathway. Our study indicates that proper regulation of inflammasome cascade is critical for the maintenance of microglia homeostasis.

Dissecting PCNA function with a systematically designed mutant library in yeast

Qingwen Jiang, Weimin Zhang, Chenghao Liu, Yicong Lin, Qingyu Wu, Junbiao Dai

2019, 46(6): 301-313. doi: 10.1016/j.jgg.2019.03.014

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Abstract:
Proliferating cell nuclear antigen (PCNA), encoded by POL30 in Saccharomyces cerevisiae, is a key component of DNA metabolism. Here, a library consisting of 304 PCNA mutants was designed and constructed to probe the contribution of each residue to the biological function of PCNA. Five regions with elevated sensitivity to DNA damaging reagents were identified using high-throughput phenotype screening. Using a series of genetic and biochemical analyses, we demonstrated that one particular mutant, K168A, has defects in the DNA damage tolerance (DDT) pathway by disrupting the interaction between PCNA and Rad5. Subsequent domain analysis showed that the PCNA-Rad5 interaction is a prerequisite for the function of Rad5 in DDT. Our study not only provides a resource in the form of a library of versatile mutants to study the functions of PCNA, but also reveals a key residue on PCNA (K168) which highlights the importance of the PCNA-Rad5 interaction in the template switching (TS) pathway.

Mutations in TP53, ZNF750, and RB1 typify ocular sebaceous carcinoma

Yongyang Bao, J. Eva Selfridge, Janet Wang, Yiqing Zhao, Junqi Cui, Kishore Guda, Zhenghe Wang, Yanbo Zhu

2019, 46(6): 315-318. doi: 10.1016/j.jgg.2019.06.001

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Abstract:

Genetic analysis and preimplantation genetic diagnosis of Chinese Marfan syndrome patients

Meng Qin, Xiaohui Zhu, Zhe Zhang, Xuemin Li, Zhiqiang Yan, Yuqian Wang, Shuo Guan, Yihua He, Wenxin Zhang, Liying Yan, Jie Qiao, Xu Zhi

2019, 46(6): 319-323. doi: 10.1016/j.jgg.2019.04.003

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Abstract:

Pyramiding of the dep1-1 and NAL1NJ6 alleles achieves sustainable improvements in nitrogen-use efficiency and grain yield in japonica rice breeding

Xiaopeng Xu, Kun Wu, Ruineng Xu, Jianping Yu, Jing Wang, Ying Zhao, Yun Wang, Wenzhen Song, Shuoxun Wang, Zhi Gao, Yongjia Zhong, Xinxin Li, Hong Liao, Xiangdong Fu

2019, 46(6): 325-328. doi: 10.1016/j.jgg.2019.02.009

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2019 Vol. 46, No. 6